癌症生物标志物数据库-Cancer Biomarkers database

Biomarker	Gene	Alteration type	Alteration	Targeting	Drug status	Drug family	Drug	Association	Evidence level	Assay type	Source	Curator	Curation date	Primary Tumor type	Metastatic Tumor Type	TCGI included	Comments	Drug full name	Primary Tumor type full name
EZH2 (A692V,Y646C,Y646F,Y646H,Y646N,Y646S,A682G)	EZH2	MUT	EZH2:A692V,Y646C,Y646F,Y646H,Y646N,Y646S,A682G		Approved	EZH2 inhibitor	Tazemetostat	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/fda-granted-accelerated-approval-tazemetostat-follicular-lymphoma;PMID:33035457	SDemajo;RShadrina	29.04.2022	FL			FDA granted accelerated approval to tazemetostat for adult patients with relapsed or refractory (R/R) follicular lymphoma (FL) whose tumors are positive for an EZH2 mutation as detected by an FDA-approved test and who have received at least 2 prior systemic therapies, and for adult patients with R/R FL who have no satisfactory alternative treatment options.	Tazemetostat (EZH2 inhibitor)	Follicular lymphoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp		Approved	ERBB2 inhibitor;Chemotherapy	Neratinib;Capecitabine	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-neratinib-metastatic-her2-positive-breast-cancer;PMID:30860945	SDemajo;RShadrina	13.05.2022	BRCA			Drug combination	Neratinib (ERBB2 inhibitor) + Capecitabine (Chemotherapy)	Breast adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp		Approved	ERBB2 inhibitor;ERBB2 inhibitor;Chemotherapy	Pertuzumab;Trastuzumab;Docetaxel	Responsive	FDA guidelines		PMID:23801166	SDemajo;RShadrina	13.05.2022	BRCA			Drug combination	Pertuzumab (ERBB2 inhibitor)+ Trastuzumab (ERBB2 inhibitor) + Docetaxel (Chemotherapy)	Breast adenocarcinoma
ERBB2 overexpression	ERBB2	EXPR	ERBB2:over		Approved	ERBB2 inhibitor;ERBB2 inhibitor;Chemotherapy	Pertuzumab;Trastuzumab;Docetaxel	Responsive	FDA guidelines		PMID:23801166	SDemajo;RShadrina	30.06.2022	BRCA			Drug combination	Pertuzumab (ERBB2 inhibitor) + Trastuzumab (ERBB2 inhibitor) + Docetaxel (Chemotherapy)	Breast adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp		Approved	ERBB2 inhibitor;Hormone therapy	Lapatinib;Letrozole	Responsive	FDA guidelines		FDA;PMID:19786658	SDemajo;RShadrina	13.05.2022	BRCA			Drug combination	Lapatinib (ERBB2 inhibitor) + Letrozole (Hormone therapy)	Breast adenocarcinoma
ERBB2 expression -	ERBB2	EXPR	ERBB2:norm		Approved	Estrogen receptor antagonist;CDK4/6 inhibitor	Fulvestrant;Palbociclib	Responsive	FDA guidelines		PMID:27407089	SDemajo;RShadrina	21.04.2022	BRCA		1	Drug combination indicated for Hormone Receptor (HR)-Positive breast cancer	Fulvestrant (Estrogen receptor antagonist) + Palbociclib (CDK4/6 inhibitor)	Breast adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp		Approved	ERBB2 inhibitor	Margetuximab	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-margetuximab-metastatic-her2-positive-breast-cancer	SDemajo;RShadrina	21.04.2023	BRCA		1	In combination with chemotherapy	Margetuximab (ERBB2 inhibitor)	Breast adenocarcinoma
ERBB2 overexpression	ERBB2	EXPR	ERBB2:over		Approved	ERBB2 inhibitor	Margetuximab	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-margetuximab-metastatic-her2-positive-breast-cancer	SDemajo;RShadrina	30.06.2022	BRCA		1	In combination with chemotherapy	Margetuximab (ERBB2 inhibitor)	Breast adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp		Approved	ERBB2 inhibitor;ERBB2 inhibitor;Chemotherapy	Tucatinib;Trastuzumab;Capecitabine	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-tucatinib-patients-her2-positive-metastatic-breast-cancer;PMID:31825569	SDemajo;RShadrina	21.04.2024	BRCA		1	Drug combination. Indicated for adult patients with advanced unresectable or metastatic HER2-positive breast cancer.	Tucatinib (ERBB2 inhibitor) + Trastuzumab (ERBB2 inhibitor) + Capecitabine (chemotherapy)	Breast adenocarcinoma
BRCA1 oncogenic mutation	BRCA1	MUT	BRCA1:.		Approved	PARP inhibitor	Talazoparib	Responsive	NCCN guidelines		NCCN guideline Breast cancer 2022;PMID: 30110579	SDemajo;RShadrina	22.04.2022	BRCA			Patients with Germline BRCA1 Mutation	Talazoparib (PARP inhibitor)	Breast adenocarcinoma
BRCA2 oncogenic mutation	BRCA2	MUT	BRCA2:.		Approved	PARP inhibitor	Talazoparib	Responsive	NCCN guidelines		NCCN guideline Breast cancer 2022;PMID: 30110579	SDemajo;RShadrina	22.04.2022	BRCA			Patients with Germline BRCA2 Mutation	Talazoparib (PARP inhibitor)	Breast adenocarcinoma
PIK3CA oncogenic mutation	PIK3CA	MUT	PIK3CA:.		Approved	PI3K inhibitor; Estrogen receptor antagonist	Alpelisib;Fulvestrant	Responsive	NCCN guidelines		NCCN guideline Breast cancer 2022	SDemajo;RShadrina	22.04.2022	BRCA			Indicated for For HR-positive/HER2-negative breast cancer; Preferred second- or subsequent-line therapy; Specific mutations FDA-approved C420R,E542K,E545A,E545D,E545G,E545K,H1047L,H1047R,H1047Y,Q546E,Q546R	Alpelisib (PI3K inhibitor) + Fulvestrant (Estrogen receptor antagonist)	Breast adenocarcinoma
NTRK1 fusion	NTRK1	FUS	NTRK__.		Approved	TRK Kinase Inhibitor	Larotrectinib	Responsive	NCCN guidelines		NCCN guideline Breast cancer 2022	SDemajo;RShadrina	22.04.2022	BRCA			Larotrectinib and entrectinib are indicated for the treatment of solid tumors that have an NTRK gene fusion without a known acquired resistance mutation and have no satisfactory alternative treatments or that have progressed following treatment.	Larotrectinib (TRK Kinase Inhibitor)	Breast adenocarcinoma
NTRK1 fusion	NTRK1	FUS	NTRK__.		Approved	Pan-TK inhibitor	Entrectinib	Responsive	NCCN guidelines		NCCN guideline Breast cancer 2022	SDemajo;RShadrina	22.04.2022	BRCA			Larotrectinib and entrectinib are indicated for the treatment of solid tumors that have an NTRK gene fusion without a known acquired resistance mutation and have no satisfactory alternative treatments or that have progressed following treatment.	Entrectinib (Pan-TK inhibitor)	Breast adenocarcinoma
CD274 (PD-L1) +	CD274	EXPR	CD274:norm		Approved	PD-1 blocking antibody	Pembrolizumab	Responsive	NCCN guidelines		NCCN guideline Breast cancer 2022	SDemajo;RShadrina	22.04.2022	BRCA			CD274 is commonly known as PD-L1. FDA granted regular approval to pembrolizumab in combination with chemotherapy for patients with locally recurrent unresectable or metastatic TNBC (Triple Negative Breast Cancer) whose tumors express PD-L1 (Combined Positive Score [CPS] ≥10) as determined by an FDA approved test.	Pembrolizumab (PD-1-blocking antibody)	Breast adenocarcinoma
FLT3-ITD	FLT3	MUT	FLT3::consequence::inframe_variant:572-630		Approved	Pan-TK inhibitor	Midostaurin	Responsive	FDA guidelines		FDA:https://www.fda.gov/news-events/press-announcements/fda-approves-new-combination-treatment-acute-myeloid-leukemia;PMID:28644114	SDemajo;RShadrina	27.04.2022	AML			Drug and chemoterphy (high dose quemotherapy) should be used in combination	Midostaurin (Pan-TK inhibitor)	Acute Myeloid Leukemia
FLT3 (D835,I836)	FLT3	MUT	FLT3:D835.,I836.		Approved	Kinase inhibitor	Gilteritinib	Responsive	FDA guidelines		FDA: https://www.fda.gov/drugs/fda-approves-gilteritinib-relapsed-or-refractory-acute-myeloid-leukemia-aml-flt3-mutatation	SDemajo;RShadrina	27.04.2022	AML			Bibliography: https://www.fda.gov/drugs/fda-approves-gilteritinib-relapsed-or-refractory-acute-myeloid-leukemia-aml-flt3-mutatation AND PMID: 31665578	Gilteritinib (Kinase inhibitor )	Acute Myeloid Leukemia
FLT3-ITD	FLT3	MUT	FLT3::consequence::inframe_variant:572-630		Approved	Kinase inhibitor	Gilteritinib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/fda-approves-gilteritinib-relapsed-or-refractory-acute-myeloid-leukemia-aml-flt3-mutatation;PMID:31665578	SDemajo;RShadrina	27.04.2022	AML				Gilteritinib (Kinase inhibitor )	Acute Myeloid Leukemia
FLT3 (D835,I836)	FLT3	MUT	FLT3:D835.,I836.		Approved	Pan-TK inhibitor	Midostaurin	Responsive	FDA guidelines		FDA:https://www.fda.gov/news-events/press-announcements/fda-approves-new-combination-treatment-acute-myeloid-leukemia; PMID:28644114	SDemajo;RShadrina	27.04.2022	AML			Drug and chemoterphy (high dose quemotherapy) should be used in combination	Midostaurin (Pan-TK inhibitor)	Acute Myeloid Leukemia
ABL1 (T315I,V299L,G250E,F317L)	ABL1	MUT	ABL1:T315I,V299L,G250E,F317L		Approved	BCR-ABL inhibitor 3rd gen	Bosutinib	Resistant	NCCN guidelines		NCCN	SDemajo;RShadrina	19.04.2022	ALL;CML		1		Bosutinib (BCR-ABL inhibitor 3rd gen)	Acute lymphoblastic leukemia; Chronic myeloid leukemia
ABL1 (T315I)	ABL1	MUT	ABL1:T315I		Approved	Kinase inhibitor	Asciminib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-asciminib-philadelphia-chromosome-positive-chronic-myeloid-leukemia	SDemajo;RShadrina	26.04.2022	CML		1	Bibliography: https://ash.confex.com/ash/2020/webprogram/Paper143816.html \|\|\| FDA indication: Philadelphia chromosome-positive chronic myeloid leukemia (Ph+ CML) in chronic phase (CP), previously treated with two or more tyrosine kinase inhibitors (TKIs)	Asciminib (Kinase inhibitor)	Chronic myeloid leukemia
BCR-ABL1	ABL1	FUS	ABL1__BCR		Approved	Kinase inhibitor	Asciminib	Responsive	FDA guidelines		FDA	SDemajo;RShadrina	26.04.2022	CML		1	Bibliography: PMID: 34407542 \|\|\| FDA indication: Philadelphia chromosome-positive chronic myeloid leukemia (Ph+ CML) in chronic phase (CP), previously treated with two or more tyrosine kinase inhibitors (TKIs).	Asciminib (Kinase inhibitor)	Chronic myeloid leukemia
ABL1 (T315I)	ABL1	MUT	ABL1:T315I		Approved	BCR-ABL inhibitor 2nd gen	Nilotinib	Resistant	NCCN guidelines		NCCN Guideline ALL 2022	SDemajo;RShadrina	19.04.2022	ALL		1		Nilotinib (BCR-ABL inhibitor 2nd gen)	Acute lymphoblastic leukemia
ABL1 (E255V,Y253H,F359V)	ABL1	MUT	ABL1:E255V,Y253H,F359V		Approved	BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor	Ponatinib	Responsive	NCCN guidelines		NCCN Guidelines Chronic Myeloid Leukemia 2022; PMID:34407543	SDemajo;RShadrina	7.04.2022	CML		1		Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)	Chronic myeloid leukemia
MYD88 (L265P)	MYD88	MUT	MYD88:L265P		Approved	Kinase inhibitor	Zanubrutinib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-zanubrutinib-waldenstroms-macroglobulinemia	SDemajo;RShadrina	29.04.2022	WM			Zanubrutinib may be also used in pateints with MYD88 wild type: PMID: 33284944	Zanubrutinib (Kinase inhibitor)	Waldenström macroglobulinemia
RET fusion	RET	FUS	RET__.		Approved	Tyrosine kinase inhibitor	Pralsetinib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-pralsetinib-ret-altered-thyroid-cancers;ASCO 2020 (abstr 109)	SDemajo;RShadrina	29.04.2022	THM				Pralsetinib (Tyrosine kinase inhibitor)	Medullary thyroid cancer
RET fusion	RET	FUS	RET__.		Approved	RET kinase inhibitor	Selpercatinib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-selpercatinib-lung-and-thyroid-cancers-ret-gene-mutations-or-fusions;ASCO 2020 (abstr 3594)	SDemajo;RShadrina	29.04.2022	THM				Selpercatinib (RET kinase inhibitor)	Medullary thyroid cancer
RET fusion	RET	FUS	RET__.			Kinase inhibitor	Cabozantinib	Responsive	Early trials		PMID:27825636	SDemajo;RShadrina	29.04.2022	NSCLC				Cabozantinib (Kinase inhibitor )	Non-Small Cell Lung Cancer
BRAF (V600E)	BRAF	MUT	BRAF:V600E		Approved	MEK inhibitor;BRAF inhibitor	Trametinib;Dabrafenib	Responsive	NCCN guidelines		NCCN Non-Small Cell Lung Cancer guidlines 2022; FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-dabrafenib-combination-trametinib-unresectable-or-metastatic-solid	SDemajo;RShadrina	8.04.2022	NSCLC		1	Drug combination dabrafenib plus trametinib is a preferred treatment option for patients with BRAF p.V600E mutations (NCCN).	Trametinib (MEK inhibitor) + Dabrafenib (BRAF inhibitor)	Non-Small Cell Lung Cancer
EGFR (S786I,G719., L861Q)	EGFR	MUT	EGFR:S786I,G719.,L861Q		Approved	EGFR inhibitor 3rd gen	Osimertinib	Responsive	NCCN guidelines		NCCN Non-Small Cell Lung Cancer guidlines 2022	SDemajo;RShadrina	8.04.2023	NSCLC				Osimertinib (EGFR inhibitor 3d gen)	Non-Small Cell Lung Cancer
NTRK1 fusion	NTRK1	FUS	NTRK__.		Approved	Pan-TK inhibitor	Entrectinib	Responsive	NCCN guidelines		NCCN guidelines Gastric Cancer 2022	SDemajo;RShadrina	25.04.2022	ST			Second-Line or Subsequent Therapy Useful in Certain Circumstances	Entrectinib (Pan-TK inhibitor)	Stomach
NTRK1 fusion	NTRK1	FUS	NTRK__.		Approved	TRK Kinase Inhibitor	Larotrectinib	Responsive	NCCN guidelines		NCCN guidelines Gastric Cancer 2022	SDemajo;RShadrina	25.04.2022	ST			Second-Line or Subsequent Therapy Useful in Certain Circumstances	Larotrectinib (TRK Kinase Inhibitor)	Stomach
BRCA1 oncogenic mutation	BRCA1	MUT	BRCA1:.		Approved	PARP inhibitor	Niraparib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-niraparib-first-line-maintenance-advanced-ovarian-cancer;PMID:30948273	SDemajo;RShadrina	21.04.2022	OV		1		Niraparib (PARP inhibitor)	Ovary
BRCA2 oncogenic mutation	BRCA2	MUT	BRCA2:.		Approved	PARP inhibitor	Niraparib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-niraparib-first-line-maintenance-advanced-ovarian-cancer;PMID:30948273	SDemajo;RShadrina	21.04.2022	OV		1		Niraparib (PARP inhibitor)	Ovary
BRCA1 oncogenic mutation	BRCA1	MUT	BRCA1:.		Approved	PARP inhibitor;VEGF mAb inhibitor	Olaparib;Bevacizumab	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-plus-bevacizumab-maintenance-treatment-ovarian-fallopian-tube-or-primary	SDemajo;RShadrina	25.04.2022	OV		1	First-line maintenance treatment of adult patients with advanced epithelial ovarian, fallopian tube, or primary peritoneal cancer who are in complete or partial response to first-line platinum-based chemotherapy and whose cancer is associated with homologous recombination deficiency positive status defined by either a deleterious or suspected deleterious BRCA mutation, and/or genomic instability.	Olaparib (PARP inhibitor) + Bevacizumab (VEGF mAb inhibitor)	Ovary
BRCA2 oncogenic mutation	BRCA2	MUT	BRCA2:.		Approved	PARP inhibitor;VEGF mAb inhibitor	Olaparib;Bevacizumab	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-plus-bevacizumab-maintenance-treatment-ovarian-fallopian-tube-or-primary	SDemajo;RShadrina	25.04.2022	OV		1	First-line maintenance treatment of adult patients with advanced epithelial ovarian, fallopian tube, or primary peritoneal cancer who are in complete or partial response to first-line platinum-based chemotherapy and whose cancer is associated with homologous recombination deficiency positive status defined by either a deleterious or suspected deleterious BRCA mutation, and/or genomic instability.	Olaparib (PARP inhibitor) + Bevacizumab (VEGF mAb inhibitor)	Ovary
ALK oncogenic mutation	ALK	MUT	ALK:.		Approved	ALK inhibitor	Lorlatinib	Responsive	FDA guidelines		FDA: https://www.accessdata.fda.gov/drugsatfda_docs/label/2021/210868s004lbl.pdf	SDemajo;RShadrina	13.04.2022	LUAD		1	Indicated for the treatment of adult patients with metastatic non-small cell lung cancer (NSCLC) whose tumors are anaplastic lymphoma kinase (ALK)-positive as detected by an FDA-approved test.	Lorlatinib (ALK inhibitor)	Lung adenocarcinoma
EGFR (L858R,S768I,L861Q,G719.)	EGFR	MUT	EGFR:L858R,S768I,L861Q,G719.		Approved	EGFR inhibitor	Dacomitinib	Responsive	FDA guidelines		NCCN Non-Small Cell Lung Cancer guidlines 2022;FDA:https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-dacomitinib-metastatic-non-small-cell-lung-cancer-0	SDemajo;RShadrina	13.04.2020	NSCLC		1		Dacomitinib (EGFR inhibitor)	Non-Small Cell Lung Cancer
VHL oncogenic mutation	VHL	MUT	VHL:.		Approved	Hypoxia-inducible factor inhibitor	Belzutifan	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-belzutifan-cancers-associated-von-hippel-lindau-disease	SDemajo;RShadrina	25.04.2022	R	R			Belzutifan (hypoxia-inducible factor inhibitor)	Renal
EGFR (T790M)	EGFR	MUT	EGFR:T790M		Approved	EGFR inhibitor 1st gen	Gefitinib	Resistant	FDA guidelines		PMID:26980062	SDemajo;RShadrina	14.04.2020	NSCLC				Gefitinib (EGFR inhibitor 1st gen)	Non-Small Cell Lung Cancer
FGFR2 fusion	FGFR2	FUS	FGFR2__.		Approved	FGFR inhibitor	Erdafitinib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-erdafitinib-metastatic-urothelial-carcinoma:PMID:31340094	SDemajo;RShadrina	2.05.2022	BLCA	BLCA		For patients with locally advanced or metastatic urothelial carcinoma, with susceptible FGFR3 or FGFR2 genetic alterations, that has progressed during or following platinum-containing chemotherapy	Erdafitinib (FGFR inhibitor)	Bladder
ATM oncogenic mutation	ATM	MUT	ATM:.		Approved	PARP inhibitor	Olaparib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890	SDemajo;RShadrina	2.05.2022	PRAD	PRAD		For Metastatic Castration-Resistant Prostate Cancer	Olaparib (PARP inhibitor)	Prostate adenocarcinoma
BARD1 oncogenic mutation	BARD1	MUT	BARD1:.		Approved	PARP inhibitor	Olaparib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890	SDemajo;RShadrina	2.05.2022	PRAD	PRAD		For Metastatic Castration-Resistant Prostate Cancer	Olaparib (PARP inhibitor)	Prostate adenocarcinoma
BRIP1 oncogenic mutation	BRIP1	MUT	BRIP1:.		Approved	PARP inhibitor	Olaparib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890	SDemajo;RShadrina	2.05.2022	PRAD	PRAD		For Metastatic Castration-Resistant Prostate Cancer	Olaparib (PARP inhibitor)	Prostate adenocarcinoma
CDK12 oncogenic mutation	CDK12	MUT	CDK12:.		Approved	PARP inhibitor	Olaparib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890	SDemajo;RShadrina	2.05.2022	PRAD	PRAD		For Metastatic Castration-Resistant Prostate Cancer	Olaparib (PARP inhibitor)	Prostate adenocarcinoma
CHEK1 oncogenic mutation	CHEK1	MUT	CHEK1:.		Approved	PARP inhibitor	Olaparib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890	SDemajo;RShadrina	2.05.2022	PRAD	PRAD		For Metastatic Castration-Resistant Prostate Cancer	Olaparib (PARP inhibitor)	Prostate adenocarcinoma
FANCL oncogenic mutation	FANCL	MUT	FANCL:.		Approved	PARP inhibitor	Olaparib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890	SDemajo;RShadrina	2.05.2022	PRAD	PRAD		For Metastatic Castration-Resistant Prostate Cancer	Olaparib (PARP inhibitor)	Prostate adenocarcinoma
BRCA1 oncogenic mutation	BRCA1	MUT	BRCA1:.		Approved	PARP inhibitor	Rucaparib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-rucaparib-brca-mutated-metastatic-castration-resistant-prostate;PMID: 32795228	SDemajo;RShadrina	2.05.2022	PRAD	PRAD	1	For BRCA-mutated metastatic castration-resistant prostate cancer	Rucaparib (PARP inhibitor)	Prostate adenocarcinoma
BRCA2 oncogenic mutation	BRCA2	MUT	BRCA2:.		Approved	PARP inhibitor	Rucaparib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-rucaparib-brca-mutated-metastatic-castration-resistant-prostate;PMID: 32795228	SDemajo;RShadrina	2.05.2022	PRAD	PRAD	1	For BRCA-mutated metastatic castration-resistant prostate cancer	Rucaparib (PARP inhibitor)	Prostate adenocarcinoma
FGFR3 fusion	FGFR3	FUS	FGFR3__.		Approved	FGFR inhibitor	Erdafitinib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-erdafitinib-metastatic-urothelial-carcinoma:PMID:31340094	SDemajo;RShadrina	2.05.2022	BLCA	BLCA		For patients with locally advanced or metastatic urothelial carcinoma, with susceptible FGFR3 or FGFR2 genetic alterations, that has progressed during or following platinum-containing chemotherapy	Erdafitinib (FGFR inhibitor)	Bladder
FGFR3 (G370C,R248C,S249C,Y373C)	FGFR3	MUT	FGFR3:G370C,R248C,S249C,Y373C		Approved	FGFR inhibitor	Erdafitinib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-erdafitinib-metastatic-urothelial-carcinoma:PMID:31340094	SDemajo;RShadrina	2.05.2022	BLCA	BLCA			Erdafitinib (FGFR inhibitor)	Bladder
BRAF (V600E)	BRAF	MUT	BRAF:V600E		Approved	BRAF inhibitor;EGFR mAb inhibitor	Encorafenib;Cetuximab	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-encorafenib-combination-cetuximab-metastatic-colorectal-cancer-braf-v600e-mutation;PMID:31566309	SDemajo;RShadrina	4.05.2022	COREAD			Drug combination	Encorafenib (BRAF inhibitor) + Cetuximab (EGFR mAb inhibitor)	Colorectal adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp		Approved	PD-1 blocking antibody;ERBB2 mAb inhibitor	Pembrolizumab;Trastuzumab	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-pembrolizumab-her2-positive-gastric-cancer;PMID:34912120	SDemajo;RShadrina	4.05.2022	ST;GEJA			Treatment in combination with fluoropyrimidine- and platinum-containing chemotherapy for the first-line treatment of patients with locally advanced unresectable or metastatic HER2 positive gastric or gastroesophageal junction (GEJ) adenocarcinoma	Pembrolizumab (PD-1 blocking antibody) + Trastuzumab (ERBB2 mAb inhibitor)	Stomach;Gastroesophageal junction adenocarcinoma
ERBB2 overexpression	ERBB2	EXPR	ERBB2:over		Approved	PD-1 blocking antibody;ERBB2 mAb inhibitor	Pembrolizumab;Trastuzumab	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-pembrolizumab-her2-positive-gastric-cancer;PMID:34912120	SDemajo;RShadrina	4.05.2022	ST;GEJA			Treatment in combination with fluoropyrimidine- and platinum-containing chemotherapy for the first-line treatment of patients with locally advanced unresectable or metastatic HER2 positive gastric or gastroesophageal junction (GEJ) adenocarcinoma	Pembrolizumab (PD-1 blocking antibody) + Trastuzumab (ERBB2 mAb inhibitor)	Stomach;Gastroesophageal junction adenocarcinoma
KRAS wildtype	KRAS	MUT	KRAS::wildtype:.		Approved	EGFR mAb inhibitor	Panitumumab	Responsive	FDA guidelines		PMID: 31268481	SDemajo;RShadrina	04.05.2022	COREAD		1	Drug alone or in combination with chemotherapy (fluorouracil-leucovorin)	Panitumumab (EGFR mAb inhibitor)	Colorectal cancer
KRAS wildtype	KRAS	MUT	KRAS::wildtype:.		Approved	EGFR mAb inhibitor	Cetuximab	Responsive	FDA guidelines		PMID: 19339720	SDemajo;RShadrina	04.05.2022	COREAD		1	Drug alone or in combination with chemotherapy	Cetuximab (EGFR mAb inhibitor)	Colorectal adenocarcinoma
KIT (Y823D,N822,C809G,D820,A829P,D816,T670I)	KIT	MUT	KIT:Y823D,N822.,C809G,D820.,A829P,D816,T670I		Approved	Kinase inhibitor	Ripretinib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-ripretinib-advanced-gastrointestinal-stromal-tumor;PMID:32511981	SDemajo;RShadrina	05.05.2022	GIST			Approved for adult patients with advanced gastrointestinal stromal tumor (GIST) who have received prior treatment with 3 or more kinase inhibitors, including imatinib.	Ripretinib (Kinase inhibitor)	Gastrointestinal stromal
EGFR exon 20 insertions	EGFR	MUT	EGFR::consequence::inframe_insertion:762-823		Approved	EGFR inhibitor	Mobocertinib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-mobocertinib-metastatic-non-small-cell-lung-cancer-egfr-exon-20	SDemajo;RShadrina	18.05.2022	NSCLC		TRUE	Approved for adult patients with locally advanced or metastatic non-small cell lung cancer (NSCLC) with epidermal growth factor receptor (EGFR) exon 20 insertion mutations, as detected by an FDA-approved test, whose disease has progressed on or after platinum-based chemotherapy.	Mobocertinib (EGFR inhibitor)	Non-Small Cell Lung Cancer
EGFR exon 20 insertions	EGFR	MUT	EGFR::consequence::inframe_insertion:762-823		Approved	EGFR mAb inhibitor	Amivantamab	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-amivantamab-vmjw-metastatic-non-small-cell-lung-cancer	SDemajo;RShadrina	18.05.2022	NSCLC		TRUE	Approved for adult patients with locally advanced or metastatic non-small cell lung cancer (NSCLC) with epidermal growth factor receptor (EGFR) exon 20 insertion mutations, as detected by an FDA-approved test, whose disease has progressed on or after platinum-based chemotherapy.	Amivantamab (EGFR mAb inhibitor)	Non-Small Cell Lung Cancer
FGFR2 fusion	FGFR2	FUS	FGFR2__.		Approved	FGFR kinase inhibitor	Infigratinib	Responsive	FDA guidelines		FDA https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-infigratinib-metastatic-cholangiocarcinoma	SDemajo;RShadrina	18.05.2022	CH			Approved for adults with previously treated, unresectable locally advanced or metastatic cholangiocarcinoma with a fibroblast growth factor receptor 2 (FGFR2) fusion or other rearrangement as detected by an FDA-approved test	Infigratinib (FGFR kinase inhibitor)	Cholangiocarcinoma
FGFR2 fusion	FGFR2	FUS	FGFR2__.		Approved	FGFR kinase inhibitor	Pemigatinib	Responsive	FDA guidelines		FDA;PMID:32203698	SDemajo;RShadrina	18.05.2022	CH			https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/213736s000lbl.pdf	Pemigatinib (FGFR kinase inhibitor)	Cholangiocarcinoma
IDH1 oncogenic mutation	IDH1	MUT	IDH1:R132		Approved	IDH1 inhibitor	Ivosidenib	Responsive	FDA guidelines		FDA;PMID:34554208;PMID:32416072	SDemajo;RShadrina	18.05.2022	CH				Ivosidenib (IDH1 inhibitor)	Cholangiocarcinoma
IDH1 (R132C,R132G,R132H,R132L,R132S)	IDH1	MUT	IDH1:R132C,R132G,R132H,R132L,R132S		Approved	IDH1 inhibitor	Ivosidenib	Responsive	FDA guidelines		FDA https://www.accessdata.fda.gov/drugsatfda_docs/label/2021/211192_s008lbl.pdf	SDemajo;RShadrina	23.05.2022	AML				Ivosidenib (IDH1 inhibitor)	Acute Myeloid Leukemia
KRAS (G12C)	KRAS	MUT	KRAS:G12C		Approved	RAS GTPase family inhibitor	Sotorasib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-sotorasib-kras-g12c-mutated-nsclc	SDemajo;RShadrina	18.05.2022	NSCLC				Sotorasib (RAS GTPase family inhibitor)	Non-Small Cell Lung Cancer
PDGFRA exon 18 mutations	PDGFRA	MUT	PDGFRA::consequence::inframe_deletion:814-852,::inframe_insertion:814-852,::missense_variant:814-852		Approved	Kinase inhibitor	Avapritinib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-avapritinib-gastrointestinal-stromal-tumor-rare-mutation	SDemajo;RShadrina	23.05.2022	GIST				Avapritinib (Kinase inhibitor)	Gastrointestinal stromal
PDGFRA (D842V)	PDGFRA	MUT	PDGFRA:D842V		Approved	Kinase inhibitor	Avapritinib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-avapritinib-gastrointestinal-stromal-tumor-rare-mutation;PMID:32615108	SDemajo;RShadrina	23.05.2022	GIST				Avapritinib (Kinase inhibitor)	Gastrointestinal stromal
MET exon 14 skipping mutations	MET	MUT	MET::consequence::skipping_mutation:963-1010		Approved	MET inhibitor	Tepotinib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-tepotinib-metastatic-non-small-cell-lung-cancer;PMID:31279006;PMID:34036238	SDemajo;RShadrina	23.05.2022	NSCLC				Tepotinib (MET inhibitor)	Non-Small Cell Lung Cancer
MET exon 14 skipping mutations	MET	MUT	MET::consequence::skipping_mutation:963-1010		Approved	MET inhibitor	Capmatinib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-capmatinib-metastatic-non-small-cell-lung-cancer;ASCO 2019 (abstr 9004);ASCO 2019 (abstr 9020)	SDemajo;RShadrina	23.05.2022	NSCLC				Capmatinib (MET inhibitor)	Non-Small Cell Lung Cancer
ROS1 fusion	ROS1	FUS	ROS1__.		Approved	Pan-TK inhibitor	Entrectinib	Responsive	FDA guidelines		FDA;PMID:28183697;ESMO 2019 (abstr 4178)	SDemajo;RShadrina	23.05.2022	NSCLC		TRUE		Entrectinib (Pan-TK inhibitor)	Non-small cell lung
CXCR4	CXCR4	MUT	CXCR4:.		Approved	Kinase inhibitor	Ibrutinib	Resistant	Early trials		PMID:31267520	SDemajo;RShadrina	24.05.2022	WM				Ibrutinib (Kinase inhibitor )	Waldenström macroglobulinemia
ABL1 (T315I)	ABL1	MUT	ABL1:T315I		Approved	BCR-ABL inhibitor 3rd gen	Bosutinib	Resistant	NCCN guidelines		NCCN Guideline ALL 2022	SDemajo;RShadrina	17.06.2022	ALL		TRUE		Bosutinib (BCR-ABL inhibitor 3rd gen)	Acute lymphoblastic leukemia
NTRK1 fusion	NTRK1	FUS	NTRK__.		Approved	TRK Kinase Inhibitor	Larotrectinib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/fda-approves-larotrectinib-solid-tumors-ntrk-gene-fusions	SDemajo;RShadrina	29.06.2022	CANCER			Larotrectinib and entrectinib are indicated for the treatment of solid tumors that have an NTRK gene fusion without a known acquired resistance mutation and have no satisfactory alternative treatments or that have progressed following treatment.	Larotrectinib (TRK Kinase Inhibitor)	Any cancer type
NTRK1 fusion	NTRK1	FUS	NTRK__.		Approved	Pan-TK inhibitor	Entrectinib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-entrectinib-ntrk-solid-tumors-and-ros-1-nsclc	SDemajo;RShadrina	29.06.2022	CANCER			Larotrectinib and entrectinib are indicated for the treatment of solid tumors that have an NTRK gene fusion without a known acquired resistance mutation and have no satisfactory alternative treatments or that have progressed following treatment.	Entrectinib (Pan-TK inhibitor)	Any cancer type
ERBB2 overexpression	ERBB2	EXPR	ERBB2:over		Approved	ERBB2 inhibitor;Chemotherapy	Neratinib;Capecitabine	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-neratinib-metastatic-her2-positive-breast-cancer;PMID:30860945	SDemajo;RShadrina	30.06.2022	BRCA			Drug combination	Neratinib (ERBB2 inhibitor) + Capecitabine (Chemotherapy)	Breast adenocarcinoma
ERBB2 overexpression	ERBB2	EXPR	ERBB2:over		Approved	ERBB2 inhibitor;Hormone therapy	Lapatinib;Letrozole	Responsive	FDA guidelines		FDA;PMID:19786658	SDemajo;RShadrina	30.06.2022	BRCA			Drug combination	Lapatinib (ERBB2 inhibitor) + Letrozole (Hormone therapy)	Breast adenocarcinoma
ERBB2 overexpression	ERBB2	EXPR	ERBB2:over		Approved	ERBB2 inhibitor;ERBB2 inhibitor;Chemotherapy	Tucatinib;Trastuzumab;Capecitabine	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-tucatinib-patients-her2-positive-metastatic-breast-cancer;PMID:31825569	SDemajo;RShadrina	30.06.2022	BRCA		1	Drug combination. Indicated for adult patients with advanced unresectable or metastatic HER2-positive breast cancer.	Tucatinib (ERBB2 inhibitor) + Trastuzumab (ERBB2 inhibitor) + Capecitabine (chemotherapy)	Breast adenocarcinoma
RET fusion	RET	FUS	RET__.		Approved	Tyrosine kinase inhibitor	Pralsetinib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-pralsetinib-lung-cancer-ret-gene-fusions	SDemajo;RShadrina	30.06.2022	NSCLC				Pralsetinib (Tyrosine kinase inhibitor)	Non-small cell lung
RET fusion	RET	FUS	RET__.		Approved	RET kinase inhibitor	Selpercatinib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-selpercatinib-lung-and-thyroid-cancers-ret-gene-mutations-or-fusions	SDemajo;RShadrina	30.06.2022	NSCLC				Selpercatinib (RET kinase inhibitor)	Non-small cell lung
PALB2 oncogenic mutation	PALB2	MUT	PALB2:.		Approved	PARP inhibitor	Olaparib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890	SDemajo;RShadrina	04.07.2022	PRAD	PRAD		For Metastatic Castration-Resistant Prostate Cancer	Olaparib (PARP inhibitor)	Prostate adenocarcinoma
RAD51B oncogenic mutation	RAD51B	MUT	RAD51B:.		Approved	PARP inhibitor	Olaparib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890	SDemajo;RShadrina	04.07.2022	PRAD	PRAD		For Metastatic Castration-Resistant Prostate Cancer	Olaparib (PARP inhibitor)	Prostate adenocarcinoma
RAD51C oncogenic mutation	RAD51C	MUT	RAD51C:.		Approved	PARP inhibitor	Olaparib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890	SDemajo;RShadrina	04.07.2022	PRAD	PRAD		For Metastatic Castration-Resistant Prostate Cancer	Olaparib (PARP inhibitor)	Prostate adenocarcinoma
RAD51D oncogenic mutation	RAD51D	MUT	RAD51D:.		Approved	PARP inhibitor	Olaparib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890	SDemajo;RShadrina	04.07.2022	PRAD	PRAD		For Metastatic Castration-Resistant Prostate Cancer	Olaparib (PARP inhibitor)	Prostate adenocarcinoma
RAD54L oncogenic mutation	RAD54L	MUT	RAD54L:.		Approved	PARP inhibitor	Olaparib	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890	SDemajo;RShadrina	04.07.2022	PRAD	PRAD		For Metastatic Castration-Resistant Prostate Cancer	Olaparib (PARP inhibitor)	Prostate adenocarcinoma
PIK3CA (C420R,E542K,E545A,E545D,E545G,E545K,H1047L,H1047R,H1047Y,Q546E,Q546R)	PIK3CA	MUT	PIK3CA:C420R,E542K,E545A,E545D,E545G,E545K,H1047L,H1047R,H1047Y,Q546E,Q546R		Approved	PI3K inhibitor; Estrogen receptor antagonist	Alpelisib;Fulvestrant	Responsive	NCCN guidelines		FDA;PMID:31091374	SDemajo;RShadrina	22.04.2022	BRCA			Indicated for For HR-positive/HER2-negative breast cancer; Preferred second- or subsequent-line therapy; Specific mutations FDA-approved C420R,E542K,E545A,E545D,E545G,E545K,H1047L,H1047R,H1047Y,Q546E,Q546R	Alpelisib (PI3K inhibitor) + Fulvestrant (Estrogen receptor antagonist)	Breast adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			Antibody-drug conjugate: ERBB2 mAb inhibitor + topoisomerase I inhibitor	Trastuzumab deruxtecan-nxki	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-fam-trastuzumab-deruxtecan-nxki-her2-positive-gastric-adenocarcinomas	SDemajo;RShadrina	12.09.2022	ST;GEJA			Indicated for adult patients with locally advanced or metastatic HER2-positive gastric or gastroesophageal (GEJ) adenocarcinoma who have received a prior trastuzumab-based regimen.	Trastuzumab deruxtecan-nxki (Antibody-drug conjugate: ERBB2 mAb inhibitor + topoisomerase I inhibitor)	Stomach;Gastroesophageal junction adenocarcinoma
ERBB2 overexpression	ERBB2	EXPR	ERBB2:over			Antibody-drug conjugate: ERBB2 mAb inhibitor + topoisomerase I inhibitor	Trastuzumab deruxtecan-nxki	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-fam-trastuzumab-deruxtecan-nxki-her2-positive-gastric-adenocarcinomas	SDemajo;RShadrina	12.09.2022	ST;GEJA			Indicated for adult patients with locally advanced or metastatic HER2-positive gastric or gastroesophageal (GEJ) adenocarcinoma who have received a prior trastuzumab-based regimen.	Trastuzumab deruxtecan-nxki (Antibody-drug conjugate: ERBB2 mAb inhibitor + topoisomerase I inhibitor)	Stomach;Gastroesophageal junction adenocarcinoma
ERBB2 oncogenic mutation	ERBB2	MUT	ERBB2:.			Antibody-drug conjugate: ERBB2 mAb inhibitor + topoisomerase I inhibitor	Trastuzumab deruxtecan-nxki	Responsive	FDA guidelines		FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-fam-trastuzumab-deruxtecan-nxki-her2-mutant-non-small-cell-lung	SDemajo;RShadrina	12.09.2022	NSCLC			Indicated for adult patients with unresectable or metastatic non-small cell lung cancer (NSCLC) whose tumors have activating human epidermal growth factor receptor 2 HER2 (ERBB2) mutations, as detected by an FDA-approved test, and who have received a prior systemic therapy.	Trastuzumab deruxtecan-nxki (Antibody-drug conjugate: ERBB2 mAb inhibitor + topoisomerase I inhibitor)	Non-Small Cell Lung Cancer
AKT1 (Q79K,E17K)	AKT1	MUT	AKT1:Q79K,E17K			[BRAF inhibitor]	[]	Resistant	Case report		PMID:24265152	RDientsmann;DTamborero	03/16	CM		TRUE		BRAF inhibitors	Cutaneous melanoma
ABL1 (T315I)	ABL1	MUT	ABL1:T315I			VEGFR inhibitor	Axitinib	Responsive	Pre-clinical		PMID:25686603	DTamborero	03/16	CANCER		TRUE		Axitinib (VEGFR inhibitor)	Any cancer type
ABL1-BCR fusion	ABL1	FUS	ABL1__BCR		Approved	BCR-ABL inhibitor 3rd gen	Bosutinib	Responsive	FDA guidelines		FDA	CRubio-Perez;DTamborero;RDientsmann		CML		TRUE		Bosutinib (BCR-ABL inhibitor 3rd gen)	Chronic myeloid leukemia
ABL1 (T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I)	ABL1	MUT	ABL1:T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I		Approved	BCR-ABL inhibitor 3rd gen	Bosutinib	Responsive	NCCN guidelines		PMID:21562040	RDientsmann		CML		TRUE		Bosutinib (BCR-ABL inhibitor 3rd gen)	Chronic myeloid leukemia
ARAF oncogenic mutation	ARAF	MUT	ARAF:.			[BRAF inhibitor;EGFR mAb inhibitor]	[]	Resistant	Case report		ENA 2014 (abstr 428)	RDientsmann		COREAD		TRUE		BRAF inhibitor + EGFR mAb inhibitors	Colorectal adenocarcinoma
ABL1 (V299L)	ABL1	MUT	ABL1:V299L			Pan-kinase inhibitor	Cabozantinib	Responsive	Pre-clinical		PMID:26924578	DTamborero	03/16	CANCER		TRUE		Cabozantinib (Pan-kinase inhibitor)	Any cancer type
ABL1 (V299L)	ABL1	MUT	ABL1:V299L			ALK inhibitor	Crizotinib	Responsive	Pre-clinical		PMID:26924578	DTamborero	03/16	CANCER		TRUE		Crizotinib (ALK inhibitor)	Any cancer type
ABL1-BCR fusion	ABL1	FUS	ABL1__BCR		Approved	BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	FDA guidelines		FDA	CRubio-Perez;DTamborero;RDientsmann		CML;ALL		TRUE	In patients who are using imatinib or second-generation TKIs first-line, resistance is associated with mutations in 10% to 68% of patients, and 14% to 33% of patients using nilotinib or dasatinib as second line treatment develop BCR-ABL1 mutations. FDA guidline https://www.accessdata.fda.gov/drugsatfda_docs/nda/2021/215358Orig1s000,Orig2s000AdminCorres.pdf	Dasatinib (BCR-ABL inhibitor 2nd gen)	Chronic myeloid leukemia;Acute lymphoblastic leukemia
ABL1 (F359V,F359C,F359I,Y253H,E255K,E255V)	ABL1	MUT	ABL1:F359V,F359C,F359I,Y253H,E255K,E255V		Approved	BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	NCCN guidelines		PMID:21562040	RDientsmann		CML		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Chronic myeloid leukemia
ARAF oncogenic mutation	ARAF	MUT	ARAF:.			[BRAF inhibitor;MEK inhibitor]	[]	Resistant	Case report		ENA 2014 (abstr 428)	RDientsmann		COREAD		TRUE		BRAF inhibitor + MEK inhibitors	Colorectal adenocarcinoma
ABL1-BCR fusion	ABL1	FUS	ABL1__BCR			BCR-ABL inhibitor 2nd gen;BCL2 inhibitor	Dasatinib;Venetoclax	Responsive	Pre-clinical		PMID:27582059	RDientsmann	12/16	ALL		TRUE		Dasatinib + Venetoclax (BCR-ABL inhibitor 2nd gen + BCL2 inhibitor)	Acute lymphoblastic leukemia
ABL1 (V299L)	ABL1	MUT	ABL1:V299L			MET inhibitor	Foretinib	Responsive	Pre-clinical		PMID:26924578	DTamborero	03/16	CANCER		TRUE		Foretinib (MET inhibitor)	Any cancer type
ABL1-BCR fusion	ABL1	FUS	ABL1__BCR		Approved	BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Responsive	FDA guidelines		EMA	CRubio-Perez;DTamborero;RDientsmann		CML;ALL		TRUE	http://www.ema.europa.eu/docs/es_ES/document_library/EPAR_-_Product_Information/human/000406/WC500022207.pdf; "In patients who are using imatinib or second-generation TKIs first-line, resistance is associated with mutations in 10% to 68% of patients, and 14% to 33% of patients using nilotinib or dasatinib as second line treatment develop BCR-ABL1 mutations. FDA guidline https://www.accessdata.fda.gov/drugsatfda_docs/nda/2021/215358Orig1s000,Orig2s000AdminCorres.pdf "	Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Chronic myeloid leukemia;Acute lymphoblastic leukemia
B2M oncogenic mutation	B2M	MUT	B2M:.			[PD1 Ab inhibitor]	[]	Resistant	Case report		PMID:27433843	RDientsmann	07/16	CM		TRUE		PD1 Ab inhibitors	Cutaneous melanoma
ABL1-BCR fusion	ABL1	FUS	ABL1__BCR		Approved	BCR-ABL inhibitor 2nd gen	Nilotinib	Responsive	FDA guidelines		FDA	CRubio-Perez;DTamborero;RDientsmann		CML		TRUE	In patients who are using imatinib or second-generation TKIs first-line, resistance is associated with mutations in 10% to 68% of patients, and 14% to 33% of patients using nilotinib or dasatinib as second line treatment develop BCR-ABL1 mutations. FDA guidline https://www.accessdata.fda.gov/drugsatfda_docs/nda/2021/215358Orig1s000,Orig2s000AdminCorres.pdf	Nilotinib (BCR-ABL inhibitor 2nd gen)	Chronic myeloid leukemia
ABL1 (T315A,F317L,F317V,F317I,F317C,V299L)	ABL1	MUT	ABL1:T315A,F317L,F317V,F317I,F317C,V299L		Approved	BCR-ABL inhibitor 2nd gen	Nilotinib	Responsive	NCCN guidelines		PMID:21562040	RDientsmann		CML		TRUE		Nilotinib (BCR-ABL inhibitor 2nd gen)	Chronic myeloid leukemia
ABL1-BCR fusion	ABL1	FUS	ABL1__BCR		Approved	BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor	Ponatinib	Responsive	FDA guidelines		FDA	CRubio-Perez;DTamborero;RDientsmann		CML;ALL		TRUE		Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)	Chronic myeloid leukemia;Acute lymphoblastic leukemia
ABL1 (T315I)	ABL1	MUT	ABL1:T315I		Approved	BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor	Ponatinib	Responsive	FDA guidelines		FDA	CRubio-Perez;DTamborero;RDientsmann	12/15	CML;ALL		TRUE	REMAP: from T315. to T315I, 12/15 label update states the complete aminoacid change	Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)	Chronic myeloid leukemia;Acute lymphoblastic leukemia
ABL1 (T315I)	ABL1	MUT	ABL1:T315I		Approved	BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor	Ponatinib	Responsive	NCCN guidelines		PMID:21562040	RDientsmann		CML		TRUE		Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)	Chronic myeloid leukemia
ABL1 (V299L)	ABL1	MUT	ABL1:V299L			Pan-TK inhibitor	Vandetanib	Responsive	Pre-clinical		PMID:26924578	DTamborero	03/16	CANCER		TRUE		Vandetanib (Pan-TK inhibitor)	Any cancer type
AKT1 (E17K)	AKT1	MUT	AKT1:E17K		Clinical Trials	[AKT inhibitor]	[]	Responsive	Pre-clinical		PMID:21464312;PMID:17611497;PMID:23134728; ENA 2015 (abstr B109)	RDientsmann	11/15	CANCER		TRUE		AKT inhibitors	Any cancer type
AKT1 (E17K)	AKT1	MUT	AKT1:E17K			[allosteric AKT inhibitor]	[]	Responsive	Early trials		ENA 2015 (abstract B109);PMID:28489509	RDientsmann	07/17	CANCER		TRUE		allosteric AKT inhibitors	Any cancer type
BRAF (V600E,G469A)	BRAF	MUT	BRAF:V600E,G469A			[EGFR TK inhibitor]	[]	Resistant	Case report		PMID:22773810	RDientsmann	04/16	LUAD		TRUE	UPDATE: delete G469A mutation in v16 GDKD?	EGFR TK inhibitors	Lung adenocarcinoma
AKT1 (E17K)	AKT1	MUT	AKT1:E17K		Clinical Trials	[non-allosteric AKT inhibitor]	[]	Responsive	Early trials		ENA 2015 (abstract B109);PMID:28489509	RDientsmann	07/17	CANCER		TRUE		non-allosteric AKT inhibitors	Any cancer type
AKT1 (E17K)	AKT1	MUT	AKT1:E17K			[PI3K pathway inhibitor]	[]	Responsive	Case report		PMID:26763254	RDientsmann	07/16	HNSC		TRUE		PI3K pathway inhibitors	Head an neck squamous
AKT1 (H238Y)	AKT1	MUT	AKT1:H238Y			MTOR inhibitor	Everolimus	Responsive	Case report		ASCO 2015 (abstr 11010)	RDientsmann		FH		TRUE		Everolimus (MTOR inhibitor)	Fibrous histiocytoma
AKT1 (E17K)	AKT1	MUT	AKT1:E17K			MTOR inhibitor	Tensirolimus	Responsive	Early trials		PMID:27016228	RDientsmann	07/16	ED		TRUE		Tensirolimus (MTOR inhibitor)	Endometrium
AKT2 amplification	AKT2	CNA	AKT2:amp		Clinical Trials	Allosteric AKT inhibitor	MK2206	Responsive	Pre-clinical		ENA 2014 (abstr 373)	RDientsmann		CANCER		TRUE		MK2206 (Allosteric AKT inhibitor)	Any cancer type
AKT3 fusion	AKT3	FUS	AKT3__.	Direct	Clinical Trials;Clinical Trials	[ATP competitive AKT inhibitor]	[AZD5363,GSK2141795]	Responsive	Pre-clinical	Cell line	PMID:22722202	JAlbanell;ARovira;RDientsmann	09/15	BRCA		TRUE		ATP competitive AKT inhibitors (AZD5363,GSK2141795,etc)	Breast adenocarcinoma
ALK fusion	ALK	FUS	ALK__.			[ALK inhibitor;IGF1R inhibitor]	[]	Responsive	Pre-clinical		PMID:25173427	RDientsmann	01/16	LUAD		TRUE		ALK inhibitor + IGF1R inhibitors	Lung adenocarcinoma
ALK fusion	ALK	FUS	ALK__.			[ALK inhibitor;MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:26301689	RDientsmann	01/16	LUAD		TRUE		ALK inhibitor + MEK inhibitors	Lung adenocarcinoma
ALK fusion	ALK	FUS	ALK__.			[ALK inhibitor;SRC inhibitor]	[]	Responsive	Pre-clinical		PMID:25394791	RDientsmann	01/16	LUAD		TRUE		ALK inhibitor + SRC inhibitors	Lung adenocarcinoma
ALK fusion	ALK	FUS	ALK__.			[ALK inhibitor]	[]	Responsive	Case report		PMID:26633560	RDientsmann	01/16	COREAD		TRUE		ALK inhibitors	Colorectal adenocarcinoma
ALK fusion	ALK	FUS	ALK__.			[HSP90 inhibitor]	[]	Responsive	Early trials		PMID:23553849	RDientsmann	01/16	LUAD		TRUE		HSP90 inhibitors	Lung adenocarcinoma
ALK fusion	ALK	FUS	ALK__.			[novel ALK inhibitor]	[]	Responsive	Early trials		PMID:23639470	RDientsmann	01/16	LUAD		TRUE		novel ALK inhibitors	Lung adenocarcinoma
ALK (F1174L)	ALK	MUT	ALK:F1174L			[novel ALK inhibitor]	[]	Responsive	Pre-clinical		PMID:24327273	RDientsmann	01/16	LUAD		TRUE		novel ALK inhibitors	Lung adenocarcinoma
ALK fusion	ALK	FUS	ALK__.		Approved	ALK inhibitor	Alectinib	Responsive	FDA guidelines		FDA	RDientsmann	12/16	LUAD		TRUE		Alectinib (ALK inhibitor)	Lung adenocarcinoma
ALK fusion	ALK	FUS	ALK__.		Approved	ALK inhibitor	Alectinib	Responsive	FDA guidelines		FDA	EArriola;CRubio-Perez		NSCLC		TRUE		Alectinib (ALK inhibitor)	Non-small cell lung
CCND1 amplification	CCND1	CNA	CCND1:amp			[SMO inhibitor]	[]	Resistant	Pre-clinical		PMID:24951114	DTamborero;RDientsmann		MB		TRUE		SMO inhibitors	Medulloblastoma
ALK amplification	ALK	CNA	ALK:amp			Pan-TK inhibitor	Brigatinib	Responsive	Case report		ASCO 2017 (abstr 9065)	RDientsmann	07/17	LUAD		TRUE		Brigatinib (Pan-TK inhibitor)	Lung adenocarcinoma
ALK (E1408V)	ALK	MUT	ALK:E1408V			Pan-TK inhibitor	Brigatinib	Responsive	Case report		ASCO 2017 (abstr 9065)	RDientsmann	07/17	LUAD		TRUE		Brigatinib (Pan-TK inhibitor)	Lung adenocarcinoma
ALK (L1196M)	ALK	MUT	ALK:L1196M			Pan-TK inhibitor	Brigatinib	Responsive	Case report		ASCO 2017 (abstr 9065)	RDientsmann	07/17	LUAD		TRUE		Brigatinib (Pan-TK inhibitor)	Lung adenocarcinoma
ALK fusion	ALK	FUS	ALK__.		Approved	ALK inhibitor	Ceritinib	Responsive	FDA guidelines		FDA	CRubio-Perez;DTamborero;RDientsmann	12/16	NSCLC;LUAD		TRUE		Ceritinib (ALK inhibitor)	Non-small cell lung;Lung adenocarcinoma
ALK fusion	ALK	FUS	ALK__.			ALK inhibitor	Ceritinib	Responsive	Case report		PMID:26633560;PMID:26933125;PMID:27742657	RDientsmann	12/16	COREAD;IM		TRUE		Ceritinib (ALK inhibitor)	Colorectal adenocarcinoma;Inflammatory myofibroblastic
ALK fusion	ALK	FUS	ALK__.	Direct	Clinical Trials	ALK inhibitor	Ceritinib	Responsive	Early trials		NCT02186821	ECampo		HEMATO		TRUE		Ceritinib (ALK inhibitor)	Hematologic malignancies
ALK inframe insertion (1151T)	ALK	MUT	ALK::consequence::inframe_insertion:.1151T.			ALK inhibitor	Ceritinib	Responsive	FDA guidelines		PMID:24670165	RDientsmann	01/16	LUAD		TRUE		Ceritinib (ALK inhibitor)	Lung adenocarcinoma
CTNNB1 oncogenic mutation	CTNNB1	MUT	CTNNB1:.			[Tankyrase inhibitor]	[]	Resistant	Pre-clinical		PMID:23539443	RDientsmann		COREAD		TRUE		Tankyrase inhibitors	Colorectal adenocarcinoma
ALK (L1196M,S1206Y,G1269A,I1171T)	ALK	MUT	ALK:L1196M,S1206Y,G1269A,I1171T			ALK inhibitor	Ceritinib	Responsive	FDA guidelines		PMID:24670165;PMID:24327273	RDientsmann	01/16	LUAD		TRUE		Ceritinib (ALK inhibitor)	Lung adenocarcinoma
ALK fusion	ALK	FUS	ALK__.			ALK inhibitor	Crizotinib	Responsive	Early trials		PMID:24491302;NCT02270034	MMartínez;RDientsmann	09/15	LY;GB		TRUE		Crizotinib (ALK inhibitor)	Lymphoma;Glioblastoma
ALK fusion	ALK	FUS	ALK__.		Approved	ALK inhibitor	Crizotinib	Responsive	FDA guidelines		FDA	CRubio-Perez;DTamborero;RDientsmann		NSCLC;LUAD		TRUE		Crizotinib (ALK inhibitor)	Non-small cell lung;Lung adenocarcinoma
ALK fusion	ALK	FUS	ALK__.			ALK inhibitor	Crizotinib	Responsive	Case report		PMID:20979472;PMID:24687827	RDientsmann		IM;THCA		TRUE		Crizotinib (ALK inhibitor)	Inflammatory myofibroblastic;Thyroid carcinoma
EGFR inframe deletion (30-336)	EGFR	MUT	EGFR::consequence::inframe_deletion:30-336			[EGFR inhibitor 1st gen]	[]	No Responsive	Early trials		PMID:19204207	RDientsmann		G		TRUE		EGFR inhibitor 1st gens	Glioma
EGFR exon 20 insertions	EGFR	MUT	EGFR::consequence::inframe_insertion:762-823			[EGFR inhibitor 1st gen]	[]	Resistant	Late trials		PMID:21764376;PMID:26773740;PMID:26051236	RDientsmann	12/16	L		TRUE		EGFR inhibitor 1st gens	Lung
EGFR amplification	EGFR	CNA	EGFR:amp			[EGFR inhibitor 1st gen]	[]	No Responsive	Early trials		PMID:16282176;PMID:16278407	RDientsmann		G		TRUE		EGFR inhibitor 1st gens	Glioma
EGFR (D761Y)	EGFR	MUT	EGFR:D761Y			[EGFR inhibitor 1st gen]	[]	Resistant	Case report		PMID:19680293	DTamborero		NSCLC		TRUE		EGFR inhibitor 1st gens	Non-small cell lung
EGFR (T790M)	EGFR	MUT	EGFR:T790M			[EGFR inhibitor 1st gen]	[]	Resistant	Late trials		PMID:19680293	DTamborero	01/16	NSCLC		TRUE		EGFR inhibitor 1st gens	Non-small cell lung
EGFR inframe deletion (30-336)	EGFR	MUT	EGFR::consequence::inframe_deletion:30-336			[EGFR inhibitor 2nd gen]	[]	No Responsive	Early trials		PMID:19204207	RDientsmann		G		TRUE		EGFR inhibitor 2nd gens	Glioma
ALK (F856S,A348D)	ALK	MUT	ALK:F856S,A348D			ALK inhibitor	Crizotinib	Responsive	Pre-clinical		PMID:26032424	RDientsmann	01/16	AML		TRUE		Crizotinib (ALK inhibitor)	Acute myeloid leukemia
EGFR amplification	EGFR	CNA	EGFR:amp			[EGFR inhibitor 2nd gen]	[]	No Responsive	Early trials		PMID:16282176;PMID:16278407	RDientsmann		G		TRUE		EGFR inhibitor 2nd gens	Glioma
ALK (L1198F)	ALK	MUT	ALK:L1198F			ALK inhibitor	Crizotinib	Responsive	Case report		PMID:26698910	RDientsmann	04/16	LUAD		TRUE		Crizotinib (ALK inhibitor)	Lung adenocarcinoma
ALK (R1275Q,G1128A,I1171N,R1192P,F1245C)	ALK	MUT	ALK:R1275Q,G1128A,I1171N,R1192P,F1245C			ALK inhibitor	Crizotinib	Responsive	Pre-clinical		PMID:22072639	RDientsmann		G		TRUE		Crizotinib (ALK inhibitor)	Glioma
ALK fusion	ALK	FUS	ALK__.			Pan-TK inhibitor	Entrectinib	Responsive	Case report		PMID:26633560;PMID:26933125	RDientsmann	12/16	COREAD		TRUE		Entrectinib (Pan-TK inhibitor)	Colorectal adenocarcinoma
ALK fusion	ALK	FUS	ALK__.			ALK&ROS1 inhibitor	Lorlatinib	Responsive	Early trials		PMID:26951079	RDientsmann;CRubio-Perez	07/17	NSCLC		TRUE		Lorlatinib (ALK&ROS1 inhibitor)	Non-small cell lung
ALK fusion	ALK	FUS	ALK__.		Approved	Pan-TK inhibitor	Brigatinib	Responsive	FDA guidelines		FDA	RDientsmann;CRubio-Perez	07/17	NSCLC		TRUE		Brigatinib (Pan-TK inhibitor)	Non-small cell lung
ALK (C1156Y)	ALK	MUT	ALK:C1156Y			ALK&ROS1 inhibitor	Lorlatinib	Responsive	Pre-clinical		PMID:27401242	RDientsmann	07/17	LUAD		TRUE		Lorlatinib (ALK&ROS1 inhibitor)	Lung adenocarcinoma
APC oncogenic mutation	APC	MUT	APC:.			[Tankyrase inhibitor]	[]	Responsive	Pre-clinical		PMID:22440753;PMID:23539443	RDientsmann		COREAD		TRUE		Tankyrase inhibitors	Colorectal adenocarcinoma
EGFR (T790M)	EGFR	MUT	EGFR:T790M			[EGFR inhibitor 2nd gen]	[]	Resistant	Late trials		PMID:22452896	DTamborero	01/16	NSCLC		TRUE		EGFR inhibitor 2nd gens	Non-small cell lung
EGFR inframe deletion (30-336)	EGFR	MUT	EGFR::consequence::inframe_deletion:30-336			[EGFR inhibitor 3rd gen]	[]	No Responsive	Early trials		PMID:19204207	RDientsmann		G		TRUE		EGFR inhibitor 3rd gens	Glioma
EGFR amplification	EGFR	CNA	EGFR:amp			[EGFR inhibitor 3rd gen]	[]	No Responsive	Early trials		PMID:16282176;PMID:16278407	RDientsmann		G		TRUE		EGFR inhibitor 3rd gens	Glioma
AR amplification	AR	CNA	AR:amp			[AR inhibitor next gen]	[]	Responsive	Pre-clinical		PMID:23589709;PMID:21859989	RDientsmann		PRAD		TRUE		AR inhibitor next gens	Prostate adenocarcinoma
AR overexpression	AR	EXPR	AR:over	Direct	Clinical Trials	[AR inhibitor]	[Bicalutamide,Enzalutamide,Orterone,4OHtestosterone]	Responsive	Early trials		ASCO 2015 (abstr 1003)	JAlbanell;ARovira	09/15	BRCA		TRUE		AR inhibitors (Bicalutamide,Enzalutamide,Orterone,4OHtestosterone,etc)	Breast adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			[EGFR inhibitor]	[]	Resistant	Pre-clinical		PMID:22956644	EArriola	06/16	LUAD		TRUE		EGFR inhibitors	Lung adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			[EGFR mAb inhibitor]	[]	Resistant	Early trials		PMID:22586653;PMID:23348520	RDientsmann		COREAD		TRUE		EGFR mAb inhibitors	Colorectal adenocarcinoma
ERBB3 amplification	ERBB3	CNA	ERBB3:amp			[EGFR mAb inhibitor]	[]	Resistant	Early trials		PMID:25520391	RDientsmann		COREAD		TRUE		EGFR mAb inhibitors	Colorectal adenocarcinoma
ESR1-YAP1 fusion	ESR1	FUS	ESR1__YAP1			[ESR1 inhibitor]	[]	Resistant	Pre-clinical		PMID:24055055	RDientsmann		BRCA		TRUE		ESR1 inhibitors	Breast adenocarcinoma
AR overexpression	AR	EXPR	AR:over	Direct	Approved	AR inhibitor	Enzalutamide	Responsive	Early trials		PMID:24882673	ARodriguez-Vida	09/15	PRAD	PRAD	TRUE		Enzalutamide (AR inhibitor)	Prostate adenocarcinoma
FBXW7 oncogenic mutation	FBXW7	MUT	FBXW7:.			[Tubulin inhibitor]	[]	Resistant	Pre-clinical		PMID:21368834	RDientsmann		CANCER		TRUE		Tubulin inhibitors	Any cancer type
AR (F877L) + AR (T878A)	AR;AR	MUT;MUT	AR:F877L;AR:T878A			AR inhibitor	Enzalutamide	Responsive	Pre-clinical		PMID:27196756	RDientsmann	12/16	PRAD		TRUE		Enzalutamide (AR inhibitor)	Prostate adenocarcinoma
FBXW7 deletion	FBXW7	CNA	FBXW7:del			[Tubulin inhibitor]	[]	Resistant	Pre-clinical		PMID:21368834	RDientsmann		CANCER		TRUE		Tubulin inhibitors	Any cancer type
FGFR2 (N549H,V564F,K659M,L617V,K641R,R565A) + FGFR2 fusion	FGFR2;FGFR2	MUT;FUS	FGFR2:N549H,V564F,K659M,L617V,K641R,R565A;FGFR2__.			[FGFR inhibitor]	[]	Resistant	Early trials		PMID:28034880;ASCO 2017 (abstr 2500)	RDientsmann	07/17	CH		TRUE		FGFR inhibitors	Cholangiocarcinoma
ARAF (S214C)	ARAF	MUT	ARAF:S214C	Direct:primary target	FDA approved	Pan-TK inhibitor	Sorafenib	Responsive	Case report		http://www.jci.org/articles/view/72763;PMID:24569458	JAlbanell;ARovira;RDientsmann	09/15	LUAD		TRUE		Sorafenib (Pan-TK inhibitor)	Lung adenocarcinoma
AREG amplification	AREG	CNA	AREG:amp			[EGFR mAb inhibitor]	[]	Responsive	Early trials		PMID:19738126;PMID:26341080	RDientsmann	04/16	COREAD		TRUE		EGFR mAb inhibitors	Colorectal adenocarcinoma
ARID1A oncogenic mutation	ARID1A	MUT	ARID1A:.			[ATR inhibitors]	[]	Responsive	Pre-clinical		PMID:27958275	RDientsmann	07/17	CANCER		TRUE		ATR inhibitors	Any cancer type
ARID1A oncogenic mutation	ARID1A	MUT	ARID1A:.			[EZH2 inhibitor]	[]	Responsive	Pre-clinical		PMID:25686104	RDientsmann	01/16	OV		TRUE		EZH2 inhibitors	Ovary
ARID1A oncogenic mutation	ARID1A	MUT	ARID1A:.			[PARP inhibitor]	[]	Responsive	Pre-clinical		PMID:26069190	RDientsmann	11/15	CANCER		TRUE		PARP inhibitors	Any cancer type
FGFR3 (V555M)	FGFR3	MUT	FGFR3:V555M			[FGFR inhibitor]	[]	Resistant	Pre-clinical		PMID:22869148	RDientsmann		MYMA		TRUE		FGFR inhibitors	Myeloma
GLI2 amplification	GLI2	CNA	GLI2:amp			[SMO inhibitor]	[]	Resistant	Pre-clinical		PMID:24951114	DTamborero;RDientsmann		MB		TRUE		SMO inhibitors	Medulloblastoma
ATM oncogenic mutation	ATM	MUT	ATM:.			[ATR inhibitor]	[]	Responsive	Case report		ENA 2015 (abstr A48)	RDientsmann	11/15	COREAD		TRUE		ATR inhibitors	Colorectal adenocarcinoma
ATM deletion	ATM	CNA	ATM:del			[ATR inhibitor]	[]	Responsive	Case report		ENA 2015 (abstr A48)	RDientsmann	11/15	COREAD		TRUE		ATR inhibitors	Colorectal adenocarcinoma
ATM oncogenic mutation	ATM	MUT	ATM:.			[DNA-PKc inhibitor]	[]	Responsive	Pre-clinical		PMID:23761041	RDientsmann	11/15	LY		TRUE		DNA-PKc inhibitors	Lymphoma
ATM deletion	ATM	CNA	ATM:del			[DNA-PKc inhibitor]	[]	Responsive	Pre-clinical		PMID:23761041	RDientsmann	11/15	LY		TRUE		DNA-PKc inhibitors	Lymphoma
ATM oncogenic mutation	ATM	MUT	ATM:.			[PARP inhibitor]	[]	Responsive	Early trials		ENA 2014 (abstr 8LBA)	RDientsmann		ST		TRUE		PARP inhibitors	Stomach
ATM deletion	ATM	CNA	ATM:del			[PARP inhibitor]	[]	Responsive	Early trials		ENA 2014 (abstr 8LBA)	RDientsmann		ST		TRUE		PARP inhibitors	Stomach
ATM biallelic inactivation	ATM	BIA	ATM:.	Indirect	Clinical Trials	ATR inhibitor	AZD6738	Responsive	Early trials		NCT01955668;https://ash.confex.com/ash/2014/webprogram/Paper71027.html	ECampo		BCL		TRUE		AZD6738 (ATR inhibitor)	B cell lymphoma
ATM oncogenic mutation	ATM	MUT	ATM:.	Indirect	Approved	Chemotherapy	Cisplatin	Responsive	Early trials		PMID:26238431	ARodriguez-Vida	09/15	BLCA	BLCA	TRUE		Cisplatin (Chemotherapy)	Bladder
ATM deletion	ATM	CNA	ATM:del	Indirect	Approved	Chemotherapy	Cisplatin	Responsive	Early trials		PMID:26238431	ARodriguez-Vida	09/15	BLCA	BLCA	TRUE		Cisplatin (Chemotherapy)	Bladder
ATM oncogenic mutation	ATM	MUT	ATM:.		Approved	PARP inhibitor	Olaparib	Responsive	Early trials		ENA 2014 (abstr 8LBA)	RDientsmann;RShadrina;SDemajo	01/16	ST		TRUE		Olaparib (PARP inhibitor)	Stomach
ATM oncogenic mutation	ATM	MUT	ATM:.			Chemotherapy	Temozolomide	Responsive	Pre-clinical		PMID:23960094	RDientsmann		G		TRUE		Temozolomide (Chemotherapy)	Glioma
ATR oncogenic mutation	ATR	MUT	ATR:.	Indirect	Approved	PARP inhibitor	Olaparib	Responsive	Pre-clinical	Cell line	PMID:23548269	CRubio-Perez;ECampo;RDientsmann		OV;CANCER		TRUE		Olaparib (PARP inhibitor)	Ovary;Any cancer type
ATR deletion	ATR	CNA	ATR:del	Indirect	Approved	PARP inhibitor	Olaparib	Responsive	Pre-clinical	Cell line	PMID:23548269	CRubio-Perez;ECampo;RDientsmann		OV;CANCER		TRUE		Olaparib (PARP inhibitor)	Ovary;Any cancer type
ATR oncogenic mutation	ATR	MUT	ATR:.			Chemotherapy	Temozolomide	Responsive	Pre-clinical		PMID:23960094	RDientsmann		G		TRUE		Temozolomide (Chemotherapy)	Glioma
AURKA amplification	AURKA	CNA	AURKA:amp			[AURK inhibitor]	[]	Responsive	Pre-clinical		PMID:22302096;PMID:22389870	RDientsmann		PRAD;CANCER		TRUE		AURK inhibitors	Prostate adenocarcinoma;Any cancer type
IGF2 amplification	IGF2	CNA	IGF2:amp			[EGFR mAb inhibitor]	[]	Resistant	Early trials		PMID:25632036	RDientsmann		COREAD		TRUE		EGFR mAb inhibitors	Colorectal adenocarcinoma
BAP1 oncogenic mutation	BAP1	MUT	BAP1:.			[EZH2 inhibitor]	[]	Responsive	Pre-clinical		PMID:26437366	RDientsmann	11/15	MESO		TRUE		EZH2 inhibitors	Mesothelioma
BAP1 deletion	BAP1	CNA	BAP1:del			[EZH2 inhibitor]	[]	Responsive	Pre-clinical		PMID:26437366	RDientsmann	11/15	MESO		TRUE		EZH2 inhibitors	Mesothelioma
BAP1 oncogenic mutation	BAP1	MUT	BAP1:.			[HDAC inhibitor]	[]	Responsive	Pre-clinical		PMID:22038994	RDientsmann		CM		TRUE		HDAC inhibitors	Cutaneous melanoma
BAP1 deletion	BAP1	CNA	BAP1:del			[HDAC inhibitor]	[]	Responsive	Pre-clinical		PMID:22038994	RDientsmann		CM		TRUE		HDAC inhibitors	Cutaneous melanoma
BAP1 oncogenic mutation	BAP1	MUT	BAP1:.			[PARP inhibitor]	[]	Responsive	Pre-clinical		PMID:22683710	RDientsmann		R;CANCER		TRUE		PARP inhibitors	Renal;Any cancer type
BAP1 deletion	BAP1	CNA	BAP1:del			[PARP inhibitor]	[]	Responsive	Pre-clinical		PMID:22683710	RDientsmann		R;CANCER		TRUE		PARP inhibitors	Renal;Any cancer type
BCL2 overexpression	BCL2	EXPR	BCL2:over			BCL2 inhibitor;Proteasome inhibitor	Venetoclax;Bortezomib	Responsive	Early trials		ASH 2015 (Blood 2015 126:2975)	CRubio-Perez	02/17	MM		TRUE		Venetoclax + Bortezomib (BCL2 inhibitor + Proteasome inhibitor)	Multiple myeloma
BCL2 amplification	BCL2	CNA	BCL2:amp			[BCL2 inhibitor]	[]	Responsive	Pre-clinical		PMID:22649144	RDientsmann		LY		TRUE		BCL2 inhibitors	Lymphoma
BCL6 overexpression	BCL6	EXPR	BCL6:over			HSP90 inhibitor	Onalespib	Responsive	Early trials		NCT02572453	CRubio-Perez	02/17	LY		TRUE		Onalespib (HSP90 inhibitor)	Lymphoma
BCOR oncogenic mutation	BCOR	MUT	BCOR:.			PKCb inhibitor	Enzastaurin	Responsive	Pre-clinical		PMID:27397505	RDientsmann	07/16	ST		TRUE		Enzastaurin (PKCb inhibitor)	Stomach
JAK1 oncogenic mutation	JAK1	MUT	JAK1:.			[PD1 inhibitor]	[]	Resistant	Case report		PMID:27903500	RDientsmann	07/17	COREAD		TRUE		PD1 inhibitors	Colorectal adenocarcinoma
JAK1 oncogenic mutation	JAK1	MUT	JAK1:.			[PD1 inhibitor]	[]	Resistant	Case report		PMID:27433843	RDientsmann	07/16	CM		TRUE		PD1 inhibitors	Cutaneous melanoma
JAK2 oncogenic mutation	JAK2	MUT	JAK2:.			[PD1 inhibitor]	[]	Resistant	Case report		PMID:27433843	RDientsmann	07/16	CM		TRUE		PD1 inhibitors	Cutaneous melanoma
BRAF (V600E)	BRAF	MUT	BRAF:V600E			[BRAF inhibitor;CDK2/4 inhibitor]	[]	Responsive	Pre-clinical		PMID:22997239	RDientsmann	01/16	CM		TRUE		BRAF inhibitor + CDK2/4 inhibitors	Cutaneous melanoma
BRAF (V600)	BRAF	MUT	BRAF:V600.			[BRAF inhibitor;EGFR mAb inhibitor +/- PI3K inhibitor]	[]	Responsive	Early trials		PMID:28363909	RDientsmann	07/17	COREAD		TRUE		BRAF inhibitor + EGFR mAb inhibitor +/- PI3K inhibitors	Colorectal adenocarcinoma
BRAF (V600E)	BRAF	MUT	BRAF:V600E			[BRAF inhibitor;HSP90 inhibitor]	[]	Responsive	Pre-clinical		PMID:22351686	RDientsmann	01/16	CM		TRUE		BRAF inhibitor + HSP90 inhibitors	Cutaneous melanoma
BRAF (V600E)	BRAF	MUT	BRAF:V600E			[BRAF inhibitor;MEK inhibitor]	[]	Responsive	Early trials		ASCO 2013 (abstr 9029)	RDientsmann	01/16	TH		TRUE		BRAF inhibitor + MEK inhibitors	Thyroid
BRAF fusion	BRAF	FUS	BRAF__.			[BRAF inhibitor;MEK inhibitor]	[]	Responsive	Case report		ASCO 2017 (abstr 9072)	RDientsmann	07/17	LUAD		TRUE		BRAF inhibitor + MEK inhibitors	Lung adenocarcinoma
BRAF (V600E)	BRAF	MUT	BRAF:V600E			[BRAF inhibitor;PI3K pathway inhibitor]	[]	Responsive	Pre-clinical		PMID:22389471;PMID:21156289	RDientsmann	01/16	CM		TRUE		BRAF inhibitor + PI3K pathway inhibitors	Cutaneous melanoma
BRAF (L597R)	BRAF	MUT	BRAF:L597R			[BRAF inhibitor]	[]	Responsive	Case report		PMID:23715574	RDientsmann	01/16	CM		TRUE		BRAF inhibitors	Cutaneous melanoma
BRAF (V600E)	BRAF	MUT	BRAF:V600E			[BRAF inhibitor]	[]	Responsive	Pre-clinical		PMID:22038996;PMID:22586120	RDientsmann		G		TRUE		BRAF inhibitors	Glioma
BRAF (V600E)	BRAF	MUT	BRAF:V600E			[BRAF inhibitor]	[]	Responsive	Case report		PMID:22608338	RDientsmann		OV		TRUE		BRAF inhibitors	Ovary
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[PI3K pathway inhibitor;MEK inhibitor]	[]	No Responsive	Early trials		ASCO 2015 (abstr 4119)	RDientsmann	01/16	PA		TRUE		PI3K pathway inhibitor + MEK inhibitors	Pancreas
BRAF (V600E)	BRAF	MUT	BRAF:V600E			[ERK inhibitor]	[]	Responsive	Pre-clinical		PMID:23614898;PMID:22997239	RDientsmann	01/16	CM		TRUE		ERK inhibitors	Cutaneous melanoma
BRAF (G469A)	BRAF	MUT	BRAF:G469A			[ERK inhibitor]	[]	Responsive	Case report		ASCO 2017 (abstr 2508)	RDientsmann	07/17	HNSC		TRUE		ERK inhibitors	Head an neck squamous
BRAF (L485W)	BRAF	MUT	BRAF:L485W			[ERK inhibitor]	[]	Responsive	Case report		ASCO 2017 (abstr 2508)	RDientsmann	07/17	BT		TRUE		ERK inhibitors	Billiary tract
BRAF (V600E)	BRAF	MUT	BRAF:V600E			[ERK inhibitor]	[]	Responsive	Early trials		ASCO 2017 (abstr 2508)	RDientsmann	07/17	LUAD		TRUE		ERK inhibitors	Lung adenocarcinoma
BRAF (V600E)	BRAF	MUT	BRAF:V600E			[MEK inhibitor]	[]	Responsive	Early trials		PMID:22241789	RDientsmann	01/16	TH		TRUE		MEK inhibitors	Thyroid
BRAF (V600E)	BRAF	MUT	BRAF:V600E			[MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:19018267	RDientsmann		OV		TRUE		MEK inhibitors	Ovary
BRAF inframe deletion (L485),inframe deletion (P490)	BRAF	MUT	BRAF::consequence::inframe_deletion:L485.,::inframe_deletion:P490.			[Pan-RAF inhibitor]	[]	Responsive	Pre-clinical		PMID:26732095	RDientsmann	04/16	CANCER		TRUE		Pan-RAF inhibitors	Any cancer type
BRAF (V600E)	BRAF	MUT	BRAF:V600E			[Pan-RAF inhibitor]	[]	Responsive	Early trials		ESMO 2015 (abstract 300);AACR 2016 (abstr CT005);AACR 2017 (abstr CT002)	RDientsmann	07/17	CM		TRUE		Pan-RAF inhibitors	Cutaneous melanoma
BRAF fusion	BRAF	FUS	BRAF__.			[MEK inhibitor]	[Trametinib]	Responsive	Pre-clinical		PMID:24727320;PMID:24345920;PMID:20526349	RDientsmann		LUAD;CM;PRAD		TRUE		MEK inhibitors (Trametinib,etc)	Lung adenocarcinoma;Cutaneous melanoma;Prostate adenocarcinoma
BRAF (K601R,L597R,V600R)	BRAF	MUT	BRAF:K601R,L597R,V600R			[MEK inhibitor]	[Trametinib]	Responsive	Case report		PMID:23248257;PMID:22805292;PMID:23248257	RDientsmann		CM		TRUE		MEK inhibitors (Trametinib,etc)	Cutaneous melanoma
KRAS (G13D)	KRAS	MUT	KRAS:G13D			EGFR mAb inhibitor	Cetuximab	No Responsive	Late trials		PMID:27114605	RDientsmann	06/16	COREAD		TRUE		Cetuximab (EGFR mAb inhibitor)	Colorectal adenocarcinoma
BRAF (V600E)	BRAF	MUT	BRAF:V600E			BRAF inhibitor	Dabrafenib	Responsive	Early trials		PMID:23524406;PMID:22608338;ASCO 2013 (abstr 8009);ESMO 2014 (abstr LBA38_PR);PMID:20818844;PMID:23489023;PMID:27080216	RDientsmann	04/16	LUAD;TH		TRUE		Dabrafenib (BRAF inhibitor)	Lung adenocarcinoma;Thyroid
BRAF (V600E)	BRAF	MUT	BRAF:V600E		Approved	BRAF inhibitor	Dabrafenib	Responsive	NCCN guidelines		NCCN	CRubio-Perez	06/16	NSCLC		TRUE		Dabrafenib (BRAF inhibitor)	Non-small cell lung
BRAF (V600E)	BRAF	MUT	BRAF:V600E		Approved	BRAF inhibitor	Dabrafenib	Responsive	FDA guidelines		FDA	CRubio-Perez;DTamborero;RDientsmann		CM		TRUE		Dabrafenib (BRAF inhibitor)	Cutaneous melanoma
BRAF (V600E)	BRAF	MUT	BRAF:V600E			BRAF inhibitor	Dabrafenib	Responsive	Case report		PMID:23470635;PMID:22608338	RDientsmann		GIST		TRUE		Dabrafenib (BRAF inhibitor)	Gastrointestinal stromal
BRAF (V600R)	BRAF	MUT	BRAF:V600R			BRAF inhibitor	Dabrafenib	Responsive	Early trials		PMID:23237741	RDientsmann		CM		TRUE		Dabrafenib (BRAF inhibitor)	Cutaneous melanoma
BRAF (V600E)	BRAF	MUT	BRAF:V600E			BRAF inhibitor;MEK inhibitor	Dabrafenib;Trametinib	Responsive	Early trials		PMID:26392102;ASCO 2015 (abstr 8006)	RDientsmann	01/16	COREAD		TRUE		Dabrafenib + Trametinib (BRAF inhibitor + MEK inhibitor)	Colorectal adenocarcinoma
BRAF (V600E)	BRAF	MUT	BRAF:V600E			BRAF inhibitor;MEK inhibitor	Dabrafenib;Trametinib	Responsive	Case report		PMID:27048246	RDientsmann	07/16	NEU		TRUE		Dabrafenib + Trametinib (BRAF inhibitor + MEK inhibitor)	Neuroendocrine
BRAF (V600E)	BRAF	MUT	BRAF:V600E			BRAF inhibitor;MEK inhibitor	Dabrafenib;Trametinib	Responsive	FDA guidelines		PMID:27283860	RDientsmann	12/16	LUAD		TRUE		Dabrafenib + Trametinib (BRAF inhibitor + MEK inhibitor)	Lung adenocarcinoma
BRAF (V600E,V600K)	BRAF	MUT	BRAF:V600E,V600K		Approved	BRAF inhibitor;MEK inhibitor	Dabrafenib;Trametinib	Responsive	FDA guidelines		FDA	RDientsmann		CM		TRUE		Dabrafenib + Trametinib (BRAF inhibitor + MEK inhibitor)	Cutaneous melanoma
BRAF (G466V)	BRAF	MUT	BRAF:G466V			BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Pre-clinical		PMID:22649091	RDientsmann		LUAD		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Lung adenocarcinoma
BRAF (Y472C)	BRAF	MUT	BRAF:Y472C			BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Case report		PMID:22649091	RDientsmann		LUAD		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Lung adenocarcinoma
BRAF (V600)	BRAF	MUT	BRAF:V600.			TOPO1 inhibitor;BRAF inhibitor;EGFR mAb inhibitor	Irinotecan;Vemurafenib;Cetuximab	Responsive	Early trials		PMID:27729313	RDientsmann	07/17	COREAD		TRUE		Irinotecan + Vemurafenib + Cetuximab (TOPO1 inhibitor + BRAF inhibitor + EGFR mAb inhibitor)	Colorectal adenocarcinoma
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			MEK inhibitor	Selumetinib	No Responsive	Early trials		PMID:26802155	RDientsmann	04/16	L		TRUE		Selumetinib (MEK inhibitor)	Lung
BRAF (V600)	BRAF	MUT	BRAF:V600.	Indirect	Approved; Approved;Clinical Trials	EGFR mAb inhibitor;BRAF inhibitor;PI3K inhibitor	Panitumumab;Dabrafenib;BYL719	Responsive	Early trials		ENA 2014 (abstr 11LBA)	RDientsmann	01/16	COREAD		TRUE		Panitumumab + Dabrafenib + BYL719 (EGFR mAb inhibitor + BRAF inhibitor + PI3K inhibitor)	Colorectal adenocarcinoma
BRAF (V600E)	BRAF	MUT	BRAF:V600E	Indirect	Approved; Approved;Clinical Trials	EGFR mAb inhibitor;BRAF inhibitor;MEK inhibitor	Panitumumab;Dabrafenib;Trametinib	Responsive	Early trials		ASCO 2014 (abstr 3515);ASCO 2015 (abstr 103)	RDientsmann	01/16	COREAD		TRUE		Panitumumab + Dabrafenib + Trametinib (EGFR mAb inhibitor + BRAF inhibitor + MEK inhibitor)	Colorectal adenocarcinoma
BRAF (V600E)	BRAF	MUT	BRAF:V600E			BRAF inhibitor	PLX4720	Responsive	Pre-clinical	Cell line	PMC3638050	MMartínez	09/15	MA		TRUE		PLX4720 (BRAF inhibitor)	Malignant astrocytoma
BRAF fusion	BRAF	FUS	BRAF__.			MEK inhibitor	Selumetinib	Responsive	Case report		PMID:26324360	RDientsmann	01/16	OV		TRUE		Selumetinib (MEK inhibitor)	Ovary
BRAF (V600E)	BRAF	MUT	BRAF:V600E		Clinical Trials	MEK inhibitor	Selumetinib	Responsive	Early trials		NCT01089101	MMartínez	09/15	PG		TRUE		Selumetinib (MEK inhibitor)	Pediatric glioma
BRAF fusion	BRAF	FUS	BRAF__.			Pan-TK inhibitor	Sorafenib	Responsive	Pre-clinical		PMID:238900088;PMID:20526349;PMID:24727320	RDientsmann		CM;LUAD;PRAD		TRUE		Sorafenib (Pan-TK inhibitor)	Cutaneous melanoma;Lung adenocarcinoma;Prostate adenocarcinoma
BRAF (D594G,G469E)	BRAF	MUT	BRAF:D594G,G469E			Pan-TK inhibitor	Sorafenib	Responsive	Pre-clinical		PMID:18794803	RDientsmann		CM		TRUE		Sorafenib (Pan-TK inhibitor)	Cutaneous melanoma
BRAF (V600E,V600K)	BRAF	MUT	BRAF:V600E,V600K		Approved	MEK inhibitor	Trametinib	Responsive	FDA guidelines		FDA	CRubio-Perez;DTamborero;RDientsmann;SDemajo		CM		TRUE	Although trametinib is FDA approved for single-agent use to treat patients with unresectable or metastatic melanoma with BRAF V600E mutation, Trametinib monotherapy is no longer an NCCN-recommended treatment option due to relatively poor efficacy compared with BRAF inhibitor monotherapy and BRAF/MEK inhibitor combination therapy.	Trametinib (MEK inhibitor)	Cutaneous melanoma
NRAS (12,13,59,61,117,146)	NRAS	MUT	NRAS:.12.,.13.,.59.,.61.,.117.,.146.		Approved	EGFR mAb inhibitor	Cetuximab	Resistant	NCCN guidelines		PMID:24024839;PMID:20619739;PMID:23325582	RDientsmann		COREAD		TRUE		Cetuximab (EGFR mAb inhibitor)	Colorectal adenocarcinoma
KRAS amplification	KRAS	CNA	KRAS:amp			[BRAF inhibitor;EGFR mAb inhibitor]	[]	Resistant	Case report		ENA 2014 (abstr 428)	RDientsmann		COREAD		TRUE		BRAF inhibitor + EGFR mAb inhibitors	Colorectal adenocarcinoma
BRAF (V600D,V600K,V600M,V600G,V600R)	BRAF	MUT	BRAF:V600D,V600K,V600M,V600G,V600R		Approved	BRAF inhibitor	Vemurafenib	Responsive	NCCN guidelines		NCCN	CRubio-Perez	16/06	CM		TRUE		Vemurafenib (BRAF inhibitor)	Cutaneous melanoma
BRAF (V600E)	BRAF	MUT	BRAF:V600E		Approved	BRAF inhibitor	Vemurafenib	Responsive	Case report		PMID:22743296;PMID:22621641;PMID:23612012	RDientsmann	04/16	LUAD;HCL;MYMA		TRUE		Vemurafenib (BRAF inhibitor)	Lung adenocarcinoma;Hairy-Cell leukemia;Myeloma
BRAF (V600E)	BRAF	MUT	BRAF:V600E		Approved	BRAF inhibitor	Vemurafenib	Responsive	Early trials		PMID:22586120	MMartínez	09/15	MA		TRUE		Vemurafenib (BRAF inhibitor)	Malignant astrocytoma
BRAF (V600E)	BRAF	MUT	BRAF:V600E		Approved	BRAF inhibitor	Vemurafenib	Responsive	FDA guidelines		FDA	CRubio-Perez;DTamborero;RDientsmann		CM		TRUE		Vemurafenib (BRAF inhibitor)	Cutaneous melanoma
BRAF (V600E)	BRAF	MUT	BRAF:V600E		Approved	BRAF inhibitor	Vemurafenib	Responsive	Early trials		PMID:22608338;PMID:20818844;PMID:23489023	RDientsmann		THCA		TRUE		Vemurafenib (BRAF inhibitor)	Thyroid carcinoma
BRAF (V600E,V600D,V600K,V600M,V600G,V600R)	BRAF	MUT	BRAF:V600E,V600D,V600K,V600M,V600G,V600R	Indirect	Approved	BRAF inhibitor	Vemurafenib	Responsive	NCCN guidelines		PMID:26287849	DTamborero		NSCLC;HISLC;HISEC		TRUE		Vemurafenib (BRAF inhibitor)	Non-small cell lung;Lagerhans cell histiocytosis;Erdheim-Chester histiocytosis
BRAF (V600E,V600K)	BRAF	MUT	BRAF:V600E,V600K		Approved	BRAF inhibitor;MEK inhibitor	Vemurafenib;Cobimetinib	Responsive	FDA guidelines		FDA	RDientsmann	11/15	CM		TRUE		Vemurafenib + Cobimetinib (BRAF inhibitor + MEK inhibitor)	Cutaneous melanoma
BRAF (G469A) + EGFR oncogenic mutation	BRAF;EGFR	MUT;MUT	BRAF:G469A;EGFR:.			[EGFR TK inhibitor;MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:22773810	RDientsmann	01/16	LUAD		TRUE		EGFR TK inhibitor + MEK inhibitors	Lung adenocarcinoma
BRCA1 oncogenic mutation	BRCA1	MUT	BRCA1:.			[PARP inhibitor;Chemotherapy]	[]	Responsive	Early trials		PMID:22307137;ASCO 2012 (abstr 1009)	RDientsmann	04/16	OV		TRUE		PARP inhibitor + Chemotherapys	Ovary
BRCA1 oncogenic mutation	BRCA1	MUT	BRCA1:.			[PARP inhibitor]	[]	Responsive	Case report		PMID:25366685;PMID:25719666;PMID:19553641;PMID:25366685	RDientsmann		PA		TRUE		PARP inhibitors	Pancreas
BRCA1 deletion	BRCA1	CNA	BRCA1:del			[PARP inhibitor]	[]	Responsive	Pre-clinical		PMID:22392482	RDientsmann		OV		TRUE		PARP inhibitors	Ovary
BRCA1 oncogenic mutation	BRCA1	MUT	BRCA1:.			[WEE1 inhibitor]	[]	Responsive	Case report		PMID:25964244	RDientsmann		CANCER		TRUE		WEE1 inhibitors	Any cancer type
BRCA1 oncogenic mutation	BRCA1	MUT	BRCA1:.			[PARP inhibitor]	[Olaparib]	Responsive	Early trials		PMID:20609467;PMID:25366685	RDientsmann;JAlbanell		BRCA		TRUE		PARP inhibitors (Olaparib,etc)	Breast adenocarcinoma
BRCA1 oncogenic mutation	BRCA1	MUT	BRCA1:.		Approved	PARP inhibitor	Olaparib	Responsive	FDA guidelines		PMID:26510020;PMID: 32343890	RDientsmann;RShadrina;SDemajo	06/22	PRAD		TRUE		Olaparib (PARP inhibitor)	Prostate adenocarcinoma
BRCA1 oncogenic mutation	BRCA1	MUT	BRCA1:.		Approved	PARP inhibitor	Olaparib	Responsive	FDA guidelines		FDA	RDientsmann	04/16	OV		TRUE		Olaparib (PARP inhibitor)	Ovary
BRCA1 oncogenic mutation	BRCA1	MUT	BRCA1:.			Chemotherapy	Platinum Agent	Responsive	Early trials		PMID:25847936	RDientsmann	01/16	BRCA		TRUE		Platinum Agent (Chemotherapy)	Breast adenocarcinoma
BRCA1 oncogenic mutation	BRCA1	MUT	BRCA1:.			Chemotherapy	Platinum Agent	Responsive	Late trials		PMID:22406760;PMID:22711857	RDientsmann	04/16	OV		TRUE		Platinum Agent (Chemotherapy)	Ovary
BRCA1 oncogenic mutation	BRCA1	MUT	BRCA1:.		Approved	PARP inhibitor	Rucaparib	Responsive	FDA guidelines		FDA	RDientsmann	04/16	OV		TRUE		Rucaparib (PARP inhibitor)	Ovary
BRCA1 oncogenic mutation	BRCA1	MUT	BRCA1:.			PARP inhibitor;Chemotherapy	Veliparib;Cisplatin	Responsive	Early trials		PMID:26801247	RDientsmann	07/16	BRCA		TRUE		Veliparib + Cisplatin (PARP inhibitor + Chemotherapy)	Breast adenocarcinoma
BRCA2 oncogenic mutation	BRCA2	MUT	BRCA2:.			[PARP inhibitor;Chemotherapy]	[]	Responsive	Early trials		PMID:22307137;ASCO 2012 (abstr 1009)	RDientsmann	04/16	OV		TRUE		PARP inhibitor + Chemotherapys	Ovary
BRCA2 oncogenic mutation	BRCA2	MUT	BRCA2:.			[PD1 Ab inhibitor]	[]	Responsive	Case report		PMID:26997480	RDientsmann	04/16	CM		TRUE		PD1 Ab inhibitors	Cutaneous melanoma
BRCA2 oncogenic mutation	BRCA2	MUT	BRCA2:.	Indirect	Approved	[PARP inhibitor]	[Olaparib]	Responsive	Early trials		PMID:20609467	JAlbanell;ARovira;RDientsmann	09/15	BRCA		TRUE		PARP inhibitors (Olaparib,etc)	Breast adenocarcinoma
BRCA2 deletion	BRCA2	CNA	BRCA2:del			[PARP inhibitor]	[Olaparib]	Responsive	Pre-clinical		PMID:22392482	RDientsmann		OV		TRUE		PARP inhibitors (Olaparib,etc)	Ovary
BRCA2 oncogenic mutation	BRCA2	MUT	BRCA2:.	Indirect	Approved	PARP inhibitor	Olaparib	Responsive	FDA guidelines		PMID:26510020;PMID: 32343890;NCT01682772;http://cancerres.aacrjournals.org/content/75/15_Supplement/CT322	RDientsmann;ARodriguez-Vida;RShadrina;SDemajo	06/22	PRAD		TRUE		Olaparib (PARP inhibitor)	Prostate adenocarcinoma
BRCA2 oncogenic mutation	BRCA2	MUT	BRCA2:.		Approved	PARP inhibitor	Olaparib	Responsive	FDA guidelines		FDA	RDientsmann		OV		TRUE		Olaparib (PARP inhibitor)	Ovary
BRCA2 oncogenic mutation	BRCA2	MUT	BRCA2:.			Chemotherapy	Platinum Agent	Responsive	Early trials		PMID:25847936	RDientsmann	01/16	BRCA		TRUE		Platinum Agent (Chemotherapy)	Breast adenocarcinoma
BRCA2 oncogenic mutation	BRCA2	MUT	BRCA2:.			Chemotherapy	Platinum Agent	Responsive	Late trials		PMID:22406760;PMID:22711857	RDientsmann	04/16	OV		TRUE		Platinum Agent (Chemotherapy)	Ovary
BRCA2 oncogenic mutation	BRCA2	MUT	BRCA2:.			Chemotherapy	Platinum Agent	Responsive	Case report		PMID:25719666	RDientsmann		PA		TRUE		Platinum Agent (Chemotherapy)	Pancreas
BRCA2 oncogenic mutation	BRCA2	MUT	BRCA2:.		Approved	PARP inhibitor	Rucaparib	Responsive	FDA guidelines		FDA	RDientsmann	04/16	OV		TRUE		Rucaparib (PARP inhibitor)	Ovary
BRCA2 oncogenic mutation	BRCA2	MUT	BRCA2:.			PARP inhibitor;Chemotherapy	Veliparib;Cisplatin	Responsive	Early trials		PMID:26801247	RDientsmann	07/16	BRCA		TRUE		Veliparib + Cisplatin (PARP inhibitor + Chemotherapy)	Breast adenocarcinoma
KRAS amplification	KRAS	CNA	KRAS:amp			[BRAF inhibitor;MEK inhibitor]	[]	Resistant	Case report		ENA 2014 (abstr 428)	RDientsmann		COREAD		TRUE		BRAF inhibitor + MEK inhibitors	Colorectal adenocarcinoma
BRD4-C15orf55 fusion	C15orf55	FUS	BRD4__C15orf55			[BET inhibitor]	[]	Responsive	Case report		ENA 2015 (abstr A49)	RDientsmann	11/15	NMC		TRUE		BET inhibitors	NUT midline carcinoma
CA9 overexpression	CA9	EXPR	CA9:over	Indirect	Approved	Pan-TK inhibitor	Sunitinib	Responsive	Pre-clinical	Cell line	PMID:24086736	ARodriguez-Vida	09/15	R		TRUE		Sunitinib (Pan-TK inhibitor)	Renal
CBL (Y371H,C384R)	CBL	MUT	CBL:Y371H,C384R			[JAK inhibitor]	[]	Responsive	Pre-clinical		PMID:23696637	RDientsmann		MDPS		TRUE		JAK inhibitors	Myelodisplasic proliferative syndrome
CBL (Y371H,C384R)	CBL	MUT	CBL:Y371H,C384R			BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Pre-clinical		PMID:23696637	RDientsmann		MDPS		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Myelodisplasic proliferative syndrome
CCND1 amplification	CCND1	CNA	CCND1:amp			[CDK4/6 inhibitor]	[]	Responsive	Case report		ASCO 2014 (abstr 2528)	RDientsmann		CM		TRUE		CDK4/6 inhibitors	Cutaneous melanoma
CCND1 amplification	CCND1	CNA	CCND1:amp			[CDK4/6 inhibitor]	[]	Responsive	Pre-clinical		PMID:22471707	RDientsmann		CANCER		TRUE		CDK4/6 inhibitors	Any cancer type
KRAS (12,13)	KRAS	MUT	KRAS:.12.,.13.		Approved	EGFR mAb inhibitor	Cetuximab	Resistant	FDA guidelines		FDA guidelines	CRubio-Perez		COREAD		TRUE		Cetuximab (EGFR mAb inhibitor)	Colorectal adenocarcinoma
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[EGFR inhibitor]	[]	Resistant	Pre-clinical		PMID:19238210	DTamborero		NSCLC		TRUE		EGFR inhibitors	Non-small cell lung
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[EGFR mAb inhibitor]	[]	Resistant	Pre-clinical		PMID:22614881;PMID:22290393	RDientsmann		ST		TRUE		EGFR mAb inhibitors	Stomach
CCND2 amplification	CCND2	CNA	CCND2:amp			[CDK4/6 inhibitor]	[]	Responsive	Pre-clinical		PMID:22471707	RDientsmann		CANCER		TRUE		CDK4/6 inhibitors	Any cancer type
CCND2 amplification	CCND2	CNA	CCND2:amp	Indirect	Approved	CDK4/6 inhibitor	Palbociclib	Responsive	Early trials		NCT02154490	CRubio-Perez;DTamborero		L		TRUE		Palbociclib (CDK4/6 inhibitor)	Lung
CCND3 amplification	CCND3	CNA	CCND3:amp			[CDK4/6 inhibitor]	[]	Responsive	Pre-clinical		PMID:22471707	RDientsmann		CANCER		TRUE		CDK4/6 inhibitors	Any cancer type
CCNE1 amplification	CCNE1	CNA	CCNE1:amp			[CDK2 inhibitor]	[]	Responsive	Pre-clinical		PMID:22471707	RDientsmann		CANCER		TRUE		CDK2 inhibitors	Any cancer type
CD274 (PD-L1) amplification	CD274	CNA	CD274:amp			[PD1 Ab inhibitor]	[]	Responsive	Case report		PMID:27942391	RDientsmann	07/17	BCC		TRUE		PD1 Ab inhibitors	Basal cell carcinoma
CD274 (PD-L1) amplification	CD274	CNA	CD274:amp			[PDL1 inhibitor]	[]	Responsive	Pre-clinical		PMID:25079317	RDientsmann		CANCER		TRUE		PDL1 inhibitors	Any cancer type
CD274 (PD-L1) overexpression	CD274	EXPR	CD274:over	Direct	Clinical Trials	PDL1 inhibitor	Atezolizumab	Responsive	Early trials		NCT01375842;doi: 10.1093/annonc/mdu337.2	ARodriguez-Vida	09/15	CM;R;CANCER	BLCA	TRUE		Atezolizumab (PDL1 inhibitor)	Cutaneous melanoma;Renal;Any cancer type
CD274 (PD-L1) overexpression	CD274	EXPR	CD274:over	Indirect	Clinical Trials	PD1 Ab inhibitor	Nivolumab	Responsive	Early trials		PMID:25452452	ARodriguez-Vida	09/15	R	R	TRUE		Nivolumab (PD1 Ab inhibitor)	Renal
CD274 (PD-L1) overexpression	CD274	EXPR	CD274:over	Indirect	Clinical Trials	PD1 Ab	Pembrolizumab	Responsive	Early trials		NCT01848834	ARodriguez-Vida	09/15	BLCA	BLCA	TRUE		Pembrolizumab (PD1 Ab)	Bladder
CD69 undexpression	CD69	EXPR	CD69:under		Approved	Alkylating agent	Bendamustine	Responsive	Pre-clinical	Cell line	PMID:26701728	CRubio-Perez	01/16	CLL		TRUE	Ibrutinib and idelalisib as adjuvants (not added)	Bendamustine (Alkylating agent)	Chronic lymphocytic leukemia
CDH1 oncogenic mutation	CDH1	MUT	CDH1:.			AR inhibitor	Bicalutamide	Responsive	Pre-clinical		PMID:27397505	RDientsmann	07/16	BRCA		TRUE		Bicalutamide (AR inhibitor)	Breast adenocarcinoma
CDK12 oncogenic mutation	CDK12	MUT	CDK12:.			[PARP inhibitors]	[]	Responsive	Pre-clinical		PMID:24240700;PMID:24554720	RDientsmann	12/16	OV		TRUE		PARP inhibitors	Ovary
CDK12 amplification	CDK12	CNA	CDK12:amp			[PARP inhibitors]	[]	Responsive	Pre-clinical		PMID:24240700;PMID:24554720	RDientsmann	12/16	OV		TRUE		PARP inhibitors	Ovary
CDK4 oncogenic mutation	CDK4	MUT	CDK4:.	Direct	Clinical Trials	CDK4/6 inhibitor	LEE011	Responsive	Early trials		NCT02187783;NCT01237236; http://meetinglibrary.asco.org/content/83791-102	CRubio-Perez;DTamborero		LIP;LY;CANCER		TRUE		LEE011 (CDK4/6 inhibitor)	Liposarcoma;Lymphoma;Any cancer type
CDK4 amplification	CDK4	CNA	CDK4:amp	Direct	Clinical Trials	CDK4/6 inhibitor	LEE011	Responsive	Early trials		NCT02187783;NCT01237236; http://meetinglibrary.asco.org/content/83791-102	CRubio-Perez;DTamborero		LIP;LY;CANCER		TRUE		LEE011 (CDK4/6 inhibitor)	Liposarcoma;Lymphoma;Any cancer type
CDK4 amplification + RB1 expression	CDK4;RB1	CNA;EXPR	CDK4:amp;RB1:norm			[CDK4 inhibitor]	[]	Responsive	Early trials		PMID:23569312	RDientsmann		LIP		TRUE		CDK4 inhibitors	Liposarcoma
CDK6 amplification	CDK6	CNA	CDK6:amp			[CDK6 inhibitor]	[]	Responsive	Pre-clinical		PMID:22471707	RDientsmann		CANCER		TRUE		CDK6 inhibitors	Any cancer type
CDK6 oncogenic mutation	CDK6	MUT	CDK6:.	Direct	Clinical Trials	CDK4/6 inhibitor	LEE011	Responsive	Early trials		NCT02187783;NCT01237236	CRubio-Perez;DTamborero		LIP;LY;CANCER		TRUE		LEE011 (CDK4/6 inhibitor)	Liposarcoma;Lymphoma;Any cancer type
CDK6 amplification	CDK6	CNA	CDK6:amp	Direct	Clinical Trials	CDK4/6 inhibitor	LEE011	Responsive	Early trials		NCT02187783;NCT01237236;http://meetinglibrary.asco.org/content/83791-102	CRubio-Perez;DTamborero		LIP;LY;CANCER		TRUE		LEE011 (CDK4/6 inhibitor)	Liposarcoma;Lymphoma;Any cancer type
CDKN1A oncogenic mutation	CDKN1A	MUT	CDKN1A:.			[CDK2/4 inhibitor]	[]	Responsive	Pre-clinical		PMID:22471707;PMID:22997239	RDientsmann		CANCER		TRUE		CDK2/4 inhibitors	Any cancer type
CDKN1A deletion	CDKN1A	CNA	CDKN1A:del			[CDK2/4 inhibitor]	[]	Responsive	Pre-clinical		PMID:22471707;PMID:22997239	RDientsmann		CANCER		TRUE		CDK2/4 inhibitors	Any cancer type
CDKN1B oncogenic mutation	CDKN1B	MUT	CDKN1B:.			[CDK2/4 inhibitor]	[]	Responsive	Pre-clinical		PMID:22471707	RDientsmann		CANCER		TRUE		CDK2/4 inhibitors	Any cancer type
CDKN1B deletion	CDKN1B	CNA	CDKN1B:del			[CDK2/4 inhibitor]	[]	Responsive	Pre-clinical		PMID:22471707	RDientsmann		CANCER		TRUE		CDK2/4 inhibitors	Any cancer type
CDKN2A oncogenic mutation	CDKN2A	MUT	CDKN2A:.			[CDK4/6 inhibitor]	[]	Responsive	Case report		ASCO 2013 (abstr 2500)	RDientsmann		CM		TRUE		CDK4/6 inhibitors	Cutaneous melanoma
CDKN2A oncogenic mutation	CDKN2A	MUT	CDKN2A:.			[CDK4/6 inhibitor]	[]	Responsive	Pre-clinical		PMID:22471707;PMID:22586120;PMID:22711607	RDientsmann		G;CANCER		TRUE		CDK4/6 inhibitors	Glioma;Any cancer type
CDKN2A deletion	CDKN2A	CNA	CDKN2A:del			[CDK4/6 inhibitor]	[]	Responsive	Case report		ASCO 2013 (abstr 2500)	RDientsmann		CM		TRUE		CDK4/6 inhibitors	Cutaneous melanoma
CDKN2A deletion	CDKN2A	CNA	CDKN2A:del			[CDK4/6 inhibitor]	[]	Responsive	Pre-clinical		PMID:22471707;PMID:22586120;PMID:22711607	RDientsmann		G;CANCER		TRUE		CDK4/6 inhibitors	Glioma;Any cancer type
CDKN2A oncogenic mutation	CDKN2A	MUT	CDKN2A:.	Indirect	Clinical Trials	AURKA-VEGF inhibitor	Ilorasertib	Responsive	Early trials		NCT02478320	CRubio-Perez;DTamborero		CANCER		TRUE		Ilorasertib (AURKA-VEGF inhibitor)	Any cancer type
CDKN2A deletion	CDKN2A	CNA	CDKN2A:del	Indirect	Clinical Trials	AURKA-VEGF inhibitor	Ilorasertib	Responsive	Early trials		NCT02478320	CRubio-Perez;DTamborero		CANCER		TRUE		Ilorasertib (AURKA-VEGF inhibitor)	Any cancer type
CDKN2B oncogenic mutation	CDKN2B	MUT	CDKN2B:.			[CDK4/6 inhibitor]	[]	Responsive	Pre-clinical		PMID:22471707;PMID:22711607	RDientsmann		G;CANCER		TRUE		CDK4/6 inhibitors	Glioma;Any cancer type
CDKN2B deletion	CDKN2B	CNA	CDKN2B:del			[CDK4/6 inhibitor]	[]	Responsive	Pre-clinical		PMID:22471707;PMID:22711607	RDientsmann		G;CANCER		TRUE		CDK4/6 inhibitors	Glioma;Any cancer type
CDKN2C oncogenic mutation	CDKN2C	MUT	CDKN2C:.			[CDK2 inhibitor]	[]	Responsive	Pre-clinical		PMID:22471707;PMID:22997239;PMID:22711607	RDientsmann		G;CANCER		TRUE		CDK2 inhibitors	Glioma;Any cancer type
CDKN2C deletion	CDKN2C	CNA	CDKN2C:del			[CDK2 inhibitor]	[]	Responsive	Pre-clinical		PMID:22471707;PMID:22997239;PMID:22711607	RDientsmann		G;CANCER		TRUE		CDK2 inhibitors	Glioma;Any cancer type
CHEK2 oncogenic mutation	CHEK2	MUT	CHEK2:.		Approved	PARP inhibitor	Olaparib	Responsive	FDA guidelines		PMID:26510020;AACR 2015 (abstr CT322);FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890	RDientsmann; RShadrina;SDemajo	07/22	PRAD		TRUE		Olaparib (PARP inhibitor)	Prostate adenocarcinoma
CHEK2 deletion	CHEK2	CNA	CHEK2:del			PARP inhibitor	Olaparib	Responsive	Early trials		AACR 2015 (abstr CT322)	RDientsmann		PRAD		TRUE		Olaparib (PARP inhibitor)	Prostate adenocarcinoma
MAP2K1 (P124)	MAP2K1	MUT	MAP2K1:P124.			[BRAF inhibitor]	[]	Resistant	Early trials		PMID:25370473	RDientsmann		CM		TRUE		BRAF inhibitors	Cutaneous melanoma
MAP2K1 (Q56P,P124S,P124L;C121S)	MAP2K1	MUT	MAP2K1:Q56P,P124S,P124L,C121S			[BRAF inhibitor]	[]	Resistant	Case report		PMID:19915144;PMID:21383288	RDientsmann;DTamborero	03/16	CM		TRUE		BRAF inhibitors	Cutaneous melanoma
MAP2K1 oncogenic mutation	MAP2K1	MUT	MAP2K1:.			[EGFR mAb inhibitor]	[]	Resistant	Case report		PMID:26030179	RDientsmann		COREAD		TRUE		EGFR mAb inhibitors	Colorectal adenocarcinoma
MAP2K1 (I99T,L115,G128D,F129L,V211D,L215P,I103N,K104N,I111N,H119P,E120D,F133L,P124,D67N)	MAP2K1	MUT	MAP2K1:I99T,L115.,G128D,F129L,V211D,L215P,I103N,K104N,I111N,H119P,E120D,F133L,P124.,D67N			[MEK inhibitor]	[]	Resistant	Pre-clinical		PMID:19915144	RDientsmann		CANCER		TRUE	Reference added by carlota	MEK inhibitors	Any cancer type
MAP2K1 (P124L,K57N,C121S)	MAP2K1	MUT	MAP2K1:P124L,K57N,C121S			[MEK inhibitor]	[]	Resistant	Case report		PMID:19915144;PMID:23444215;PMID:21383288	RDientsmann		CM		TRUE		MEK inhibitors	Cutaneous melanoma
MAP2K1 (Q56P,P124S,P124L)	MAP2K1	MUT	MAP2K1:Q56P,P124S,P124L			[MEK inhibitor]	[]	Resistant	Case report		PMID:19915144	DTamborero	03/16	CM		TRUE		MEK inhibitors	Cutaneous melanoma
CRLF2 fusion	CRLF2	FUS	CRLF2__.			[BET inhibitor]	[]	Responsive	Pre-clinical		PMID:22904298	RDientsmann	01/16	ALL		TRUE		BET inhibitors	Acute lymphoblastic leukemia
CRLF2 fusion	CRLF2	FUS	CRLF2__.			[MTOR inhibitor]	[]	Responsive	Pre-clinical		PMID:22955920	RDientsmann	01/16	ALL		TRUE		MTOR inhibitors	Acute lymphoblastic leukemia
CSF1R (Y571D)	CSF1R	MUT	CSF1R:Y571D			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Responsive	Pre-clinical		PMID:18971950	RDientsmann		MDPS		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Myelodisplasic proliferative syndrome
CSF3R frameshift variant (D771),frameshift variant (S783)	CSF3R	MUT	CSF3R::consequence::frameshift_variant:D771.,::frameshift_variant:S783.			BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Pre-clinical		PMID:23656643	RDientsmann	01/16	ACML		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Atypical chronic myeloid leukemia
MAP2K2 (Q60P)	MAP2K2	MUT	MAP2K2:Q60P			[BRAF inhibitor]	[]	Resistant	Case report		PMID:24265154	RDientsmann		CM		TRUE		BRAF inhibitors	Cutaneous melanoma
CTNNB1 (H36Y,S37C,S37Y,D32V)	CTNNB1	MUT	CTNNB1:H36Y,S37C,S37Y,D32V			MTOR inhibitor;Hormonal therapy	Everolimus;Letrozole	Responsive	Early trials		PMID:25624430	RDientsmann		ED		TRUE		Everolimus + Letrozole (MTOR inhibitor + Hormonal therapy)	Endometrium
CYP17A1 expression	CYP17A1	EXPR	CYP17A1:norm	Direct	Approved	AR inhibitor	Abiraterone	Responsive	Early trials		PMID:22184395	ARodriguez-Vida	09/15	PRAD	PRAD	TRUE		Abiraterone (AR inhibitor)	Prostate adenocarcinoma
CYP17A1 expression	CYP17A1	EXPR	CYP17A1:norm	Indirect	Approved	AR inhibitor	Enzalutamide	Responsive	Early trials		PMID:24882673	ARodriguez-Vida	09/15	PRAD	PRAD	TRUE		Enzalutamide (AR inhibitor)	Prostate adenocarcinoma
MAP2K2 (V35M,L46F,N126D,C125S)	MAP2K2	MUT	MAP2K2:V35M,L46F,N126D,C125S			[BRAF inhibitor]	[]	Resistant	Pre-clinical		PMID:24265153	RDientsmann		CM		TRUE		BRAF inhibitors	Cutaneous melanoma
DDR2 (I638F,L239R,G253C,G774V,L63V,G505S)	DDR2	MUT	DDR2:I638F,L239R,G253C,G774V,L63V,G505S			BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Pre-clinical		PMID:22328973	RDientsmann		LUSC		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Lung squamous cell
DDR2 (S768R)	DDR2	MUT	DDR2:S768R			BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Case report		PMID:22328973	RDientsmann		LUSC		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Lung squamous cell
DDR2 (S768R)	DDR2	MUT	DDR2:S768R			EGFR inhibitor 1st gen	Erlotinib	Responsive	Case report		PMID:22328973	RDientsmann		LUSC		TRUE		Erlotinib (EGFR inhibitor 1st gen)	Lung squamous cell
DNMT3A oncogenic mutation	DNMT3A	MUT	DNMT3A:.		Approved	Chemotherapy	Daunorubicin	Responsive	FDA guidelines		PMID:22417203	RDientsmann		AML		TRUE		Daunorubicin (Chemotherapy)	Acute myeloid leukemia
DPYD splice donor variant	DPYD	MUT	DPYD::consequence::splice_donor_variant:.		Approved	Fluoropyrimidine	Capecitabine	Increased Toxicity	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Capecitabine (Fluoropyrimidine)	Any cancer type
DPYD biallelic inactivation	DPYD	BIA	DPYD:.		Approved	Fluoropyrimidine	Capecitabine	Increased Toxicity	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Capecitabine (Fluoropyrimidine)	Any cancer type
DPYD (I560S,D949V)	DPYD	MUT	DPYD:I560S,D949V		Approved	Fluoropyrimidine	Capecitabine	Increased Toxicity	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Capecitabine (Fluoropyrimidine)	Any cancer type
DPYD splice donor variant	DPYD	MUT	DPYD::consequence::splice_donor_variant:.		Approved	Fluoropyrimidine	Flourouracil	Increased Toxicity	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Flourouracil (Fluoropyrimidine)	Any cancer type
DPYD biallelic inactivation	DPYD	BIA	DPYD:.		Approved	Fluoropyrimidine	Flourouracil	Increased Toxicity	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Flourouracil (Fluoropyrimidine)	Any cancer type
DPYD (I560S,D949V)	DPYD	MUT	DPYD:I560S,D949V		Approved	Fluoropyrimidine	Flourouracil	Increased Toxicity	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Flourouracil (Fluoropyrimidine)	Any cancer type
DPYD splice donor variant	DPYD	MUT	DPYD::consequence::splice_donor_variant:.		Approved	Fluoropyrimidine	Tegafur	Increased Toxicity	CPIC guidelines		PMID:23988873	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Tegafur (Fluoropyrimidine)	Any cancer type
DPYD biallelic inactivation	DPYD	BIA	DPYD:.		Approved	Fluoropyrimidine	Tegafur	Increased Toxicity	CPIC guidelines		PMID:23988873	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Tegafur (Fluoropyrimidine)	Any cancer type
DPYD (I560S,D949V)	DPYD	MUT	DPYD:I560S,D949V		Approved	Fluoropyrimidine	Tegafur	Increased Toxicity	CPIC guidelines		PMID:23988873	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Tegafur (Fluoropyrimidine)	Any cancer type
MAP2K2 (Q60P)	MAP2K2	MUT	MAP2K2:Q60P			[MEK inhibitor]	[]	Resistant	Case report		PMID:24265154	RDientsmann		CM		TRUE		MEK inhibitors	Cutaneous melanoma
MAP2K2 (V35M,L46F,N126D,C125S)	MAP2K2	MUT	MAP2K2:V35M,L46F,N126D,C125S			[MEK inhibitor]	[]	Resistant	Pre-clinical		PMID:24265153	RDientsmann		CM		TRUE		MEK inhibitors	Cutaneous melanoma
MCL1 amplification	MCL1	CNA	MCL1:amp			[Tubulin inhibitor]	[]	Resistant	Pre-clinical		PMID:21368834	RDientsmann		CANCER		TRUE		Tubulin inhibitors	Any cancer type
MET amplification	MET	CNA	MET:amp			[EGFR inhibitor 1st gen]	[]	Resistant	Early trials		PMID:22189054;PMID:23729478	DTamborero		NSCLC;COREAD		TRUE		EGFR inhibitor 1st gens	Non-small cell lung;Colorectal adenocarcinoma
MET amplification	MET	CNA	MET:amp			[EGFR mAb inhibitor]	[]	Resistant	Early trials		PMID:23729478	RDientsmann		COREAD		TRUE		EGFR mAb inhibitors	Colorectal adenocarcinoma
MET (D1246V)	MET	MUT	MET:D1246V			[MET inhibitor]	[]	Resistant	Case report		PMID:27694386	RDientsmann	07/17	LUAD		TRUE		MET inhibitors	Lung adenocarcinoma
MET amplification + EGFR oncogenic mutation	MET;EGFR	CNA;MUT	MET:amp;EGFR:.			[EGFR TK inhibitor]	[]	Resistant	Early trials		ASCO 2015 (abstr 8089)	RDientsmann	01/16	LUAD		TRUE		EGFR TK inhibitors	Lung adenocarcinoma
MITF amplification	MITF	CNA	MITF:amp			[BRAF inhibitor]	[]	Resistant	Case report		PMID:24265153	RDientsmann	01/16	CM		TRUE		BRAF inhibitors	Cutaneous melanoma
MITF amplification	MITF	CNA	MITF:amp			[BRAF inhibitor]	[]	Resistant	Case report		PMID:24265153	RDientsmann		CM		TRUE		BRAF inhibitors	Cutaneous melanoma
MYCN amplification	MYCN	CNA	MYCN:amp			[SMO inhibitor]	[]	Resistant	Pre-clinical		PMID:24951114	DTamborero;RDientsmann		MB		TRUE		SMO inhibitors	Medulloblastoma
NF1 oncogenic mutation	NF1	MUT	NF1:.			[Retinoic Acid]	[]	Resistant	Pre-clinical		PMID:20655465	RDientsmann	07/16	NB		TRUE		Retinoic Acids	Neuroblastoma
EGFR (T790M)	EGFR	MUT	EGFR:T790M			[EGFR inhibitor 3rd gen]	[]	Responsive	Early trials		ASCO 2014 (abstr 8009);ENA 2014 (abstr 10LBA);ENA 2014 (abstr 9LBA);ASCO 2015 (abstr 8001)	RDientsmann	01/16	L		TRUE		EGFR inhibitor 3rd gens	Lung
EGFR amplification	EGFR	CNA	EGFR:amp			[EGFR inhibitor]	[]	Responsive	Case report		PMID:26763254	RDientsmann	07/16	HNSC		TRUE		EGFR inhibitors	Head an neck squamous
EGFR amplification	EGFR	CNA	EGFR:amp			[EGFR mAb inhibitor]	[]	Responsive	Late trials		PMID:18794099;PMID:17664472	RDientsmann		COREAD		TRUE		EGFR mAb inhibitors	Colorectal adenocarcinoma
EGFR exon 19 insertions	EGFR	MUT	EGFR::consequence::inframe_insertion:729-761			[EGFR TK inhibitor]	[]	Responsive	Late trials		PMID:22753918	RDientsmann	01/16	L		TRUE		EGFR TK inhibitors	Lung
EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R)	EGFR	MUT	EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R			[EGFR TK inhibitor]	[]	Responsive	Late trials		PMID:22753918	RDientsmann	01/16	L		TRUE		EGFR TK inhibitors	Lung
EGFR exon 19 insertions	EGFR	MUT	EGFR::consequence::inframe_insertion:729-761			[HSP90 inhibitor]	[]	Responsive	Early trials		ESMO 2012 (abstr 4380)	RDientsmann	01/16	L		TRUE		HSP90 inhibitors	Lung
EGFR exon 20 insertions	EGFR	MUT	EGFR::consequence::inframe_insertion:762-823			[HSP90 inhibitor]	[]	Responsive	Case report		ASCO 2014 (abstr 8015)	RDientsmann	01/16	L		TRUE		HSP90 inhibitors	Lung
EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R)	EGFR	MUT	EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R			[HSP90 inhibitor]	[]	Responsive	Early trials		ESMO 2012 (abstr 4380)	RDientsmann	01/16	L		TRUE		HSP90 inhibitors	Lung
EGFR (T790M)	EGFR	MUT	EGFR:T790M			[HSP90 inhibitor]	[]	Responsive	Early trials		ESMO 2012 (abstr 4380)	RDientsmann	01/16	L		TRUE		HSP90 inhibitors	Lung
EGFR exon 19 insertions	EGFR	MUT	EGFR::consequence::inframe_insertion:729-761			[MEK inhibitor (alone or in combination)]	[]	Responsive	Pre-clinical		PMID:23102728	RDientsmann	01/16	L		TRUE		MEK inhibitor (alone or in combination)s	Lung
EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M)	EGFR	MUT	EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M			[MEK inhibitor (alone or in combination)]	[]	Responsive	Pre-clinical		PMID:23102728	RDientsmann	01/16	L		TRUE		MEK inhibitor (alone or in combination)s	Lung
EGFR (S492R)	EGFR	MUT	EGFR:S492R			[novel EGFR mAb inhibitor]	[]	Responsive	Early trials		PMID:25962717	RDientsmann	01/16	COREAD		TRUE		novel EGFR mAb inhibitors	Colorectal adenocarcinoma
EGFR (T790M)	EGFR	MUT	EGFR:T790M			[EGFR inhibitor 3rd gen]	[Rociletinib,HM61713]	Responsive	Late trials		NCT02322281	CRubio-Perez;RDientsmann	01/16	NSCLC		TRUE		EGFR inhibitor 3rd gens (Rociletinib,HM61713,etc)	Non-small cell lung
EGFR exon 19 deletions	EGFR	MUT	EGFR::consequence::inframe_deletion:729-761		Approved	ERBB2 inhibitor&EGFR inhibitor 2nd gen	Afatinib	Responsive	FDA guidelines		FDA	RDientsmann		NSCLC		TRUE		Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen)	Non-small cell lung
EGFR exon 19 insertions	EGFR	MUT	EGFR::consequence::inframe_insertion:729-761			ERBB2 inhibitor&EGFR inhibitor 2nd gen	Afatinib	Responsive	Late trials		PMID:22753918;PMID:25589191	RDientsmann	01/16	L		TRUE		Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen)	Lung
EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R)	EGFR	MUT	EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R		Approved	ERBB2 inhibitor&EGFR inhibitor 2nd gen	Afatinib	Responsive	FDA guidelines		FDA	RDientsmann		NSCLC		TRUE		Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen)	Non-small cell lung
EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R)	EGFR	MUT	EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R		Approved	ERBB2 inhibitor&EGFR inhibitor 2nd gen	Afatinib	Responsive	NCCN guidelines		FDA	RDientsmann		NSCLC		TRUE		Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen)	Non-small cell lung
NF1 deletion	NF1	CNA	NF1:del			[Retinoic Acid]	[]	Resistant	Pre-clinical		PMID:20655465	RDientsmann	07/16	NB		TRUE		Retinoic Acids	Neuroblastoma
EGFR exon 19 insertions	EGFR	MUT	EGFR::consequence::inframe_insertion:729-761			ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitor	Afatinib;Cetuximab	Responsive	Early trials		ESMO 2012 (abstr 1289)	RDientsmann	01/16	L		TRUE		Afatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor)	Lung
EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R)	EGFR	MUT	EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R			ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitor	Afatinib;Cetuximab	Responsive	Early trials		ESMO 2012 (abstr 1289)	RDientsmann	01/16	L		TRUE		Afatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor)	Lung
EGFR (T790M)	EGFR	MUT	EGFR:T790M			ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitor	Afatinib;Cetuximab	Responsive	Early trials		PMID:25074459	RDientsmann	01/16	L		TRUE		Afatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor)	Lung
EGFR (T790M)	EGFR	MUT	EGFR:T790M			ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitor	Afatinib;Nimotuzumab	Responsive	Early trials		PMID:26667485	RDientsmann	06/16	L		TRUE		Afatinib + Nimotuzumab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor)	Lung
EGFR overexpression	EGFR	EXPR	EGFR:over		Approved	EGFR mAb inhibitor	Cetuximab	Responsive	FDA guidelines		FDA	CRubio-Perez		COREAD		TRUE		Cetuximab (EGFR mAb inhibitor)	Colorectal adenocarcinoma
EGFR (P546S)	EGFR	MUT	EGFR:P546S			EGFR mAb inhibitor	Cetuximab	Responsive	Case report		PMID:23578570	RDientsmann	01/16	HNC		TRUE		Cetuximab (EGFR mAb inhibitor)	Head an neck
EGFR (P753S)	EGFR	MUT	EGFR:P753S			EGFR mAb inhibitor;MTOR inhibitor	Cetuximab;Sirolimus	Responsive	Case report		PMID:24934779	RDientsmann	01/16	HNC		TRUE		Cetuximab + Sirolimus (EGFR mAb inhibitor + MTOR inhibitor)	Head an neck
EGFR-RAD51 fusion	EGFR	FUS	EGFR__RAD51		Approved	EGFR inhibitor 1st gen	Erlotinib	Responsive	Case report		PMID:27102076	EArriola	06/16	NSCLC		TRUE		Erlotinib (EGFR inhibitor 1st gen)	Non-small cell lung
EGFR-RAD51 fusion	EGFR	FUS	EGFR__RAD51			EGFR inhibitor 1st gen	Erlotinib	Responsive	Case report		PMID:27102076	RDientsmann	07/16	L		TRUE		Erlotinib (EGFR inhibitor 1st gen)	Lung
EGFR exon 19 deletions	EGFR	MUT	EGFR::consequence::inframe_deletion:729-761		Approved	EGFR inhibitor 1st gen	Erlotinib	Responsive	FDA guidelines		FDA	RDientsmann		NSCLC		TRUE	exon 19 deletions	Erlotinib (EGFR inhibitor 1st gen)	Non-small cell lung
EGFR exon 19 insertions	EGFR	MUT	EGFR::consequence::inframe_insertion:729-761		Approved	EGFR inhibitor 1st gen	Erlotinib	Responsive	Early trials		PMID:22190593	RDientsmann		L		TRUE		Erlotinib (EGFR inhibitor 1st gen)	Lung
EGFR inframe insertion (769-770)	EGFR	MUT	EGFR::consequence::inframe_insertion:769-770			EGFR inhibitor 1st gen	Erlotinib	Responsive	Case report		PMID:26773740;PMID:23328547	RDientsmann	12/16	L		TRUE		Erlotinib (EGFR inhibitor 1st gen)	Lung
EGFR (A289V,R108K,G598V,T263P)	EGFR	MUT	EGFR:A289V,R108K,G598V,T263P		Approved	EGFR inhibitor 1st gen	Erlotinib	Responsive	Pre-clinical		PMID:17177598	RDientsmann		G		TRUE		Erlotinib (EGFR inhibitor 1st gen)	Glioma
NRAS (Q61)	NRAS	MUT	NRAS:Q61.			[BRAF inhibitor]	[]	Resistant	Early trials		PMID:23569304;PMID:24265153	RDientsmann	01/16	CM		TRUE		BRAF inhibitors	Cutaneous melanoma
EGFR (K757R,E746G)	EGFR	MUT	EGFR:K757R,E746G			EGFR inhibitor 1st gen	Erlotinib	Responsive	Case report		PMID:26773740	RDientsmann	12/16	L		TRUE		Erlotinib (EGFR inhibitor 1st gen)	Lung
EGFR (L858R)	EGFR	MUT	EGFR:L858R		Approved	EGFR inhibitor 1st gen	Erlotinib	Responsive	FDA guidelines		FDA	RDientsmann		NSCLC		TRUE		Erlotinib (EGFR inhibitor 1st gen)	Non-small cell lung
EGFR (L858R,L861,G719,S768I)	EGFR	MUT	EGFR:L858R,L861.,G719.,S768I		Approved	EGFR inhibitor 1st gen	Erlotinib	Responsive	NCCN guidelines		NCCN	RDientsmann		NSCLC		TRUE		Erlotinib (EGFR inhibitor 1st gen)	Non-small cell lung
PDGFRA amplification	PDGFRA	CNA	PDGFRA:amp			[PDGFR inhibitor]	[]	No Responsive	Pre-clinical		PMID:23544171	RDientsmann		G		TRUE		PDGFR inhibitors	Glioma
PIK3CA (E545*)	PIK3CA	MUT	PIK3CA:E545*			[BRAF inhibitor]	[]	Resistant	Case report		PMC3936420	DTamborero	03/16	CM		TRUE		BRAF inhibitors	Cutaneous melanoma
EGFR exon 19 deletions	EGFR	MUT	EGFR::consequence::inframe_deletion:729-761		Approved	EGFR inhibitor 1st gen	Gefitinib	Responsive	FDA guidelines		FDA	RDientsmann		NSCLC		TRUE		Gefitinib (EGFR inhibitor 1st gen)	Non-small cell lung
PIK3CA amplification	PIK3CA	CNA	PIK3CA:amp			[PI3K pathway inhibitor]	[]	Resistant	Pre-clinical		PMID:24366379	RDientsmann		BRCA		TRUE		PI3K pathway inhibitors	Breast adenocarcinoma
PIK3CA oncogenic mutation	PIK3CA	MUT	PIK3CA:.			[PI3K pathway inhibitor]	[]	No Responsive	Early trials		ASCO 2017 (abstr 9054)	RDientsmann	07/17	L		TRUE		PI3K pathway inhibitors	Lung
EGFR amplification	EGFR	CNA	EGFR:amp		Approved	EGFR inhibitor 1st gen	Gefitinib	Responsive	Late trials		PMID:24950987	RDientsmann		ED		TRUE		Gefitinib (EGFR inhibitor 1st gen)	Endometrium
EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R)	EGFR	MUT	EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R		Approved	EGFR inhibitor 1st gen	Gefitinib	Responsive	FDA guidelines		FDA	RDientsmann		NSCLC		TRUE		Gefitinib (EGFR inhibitor 1st gen)	Non-small cell lung
EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R)	EGFR	MUT	EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R		Approved	EGFR inhibitor 1st gen	Gefitinib	Responsive	NCCN guidelines		FDA	RDientsmann		NSCLC		TRUE		Gefitinib (EGFR inhibitor 1st gen)	Non-small cell lung
PIK3CB (D1067Y)	PIK3CB	MUT	PIK3CB:D1067Y			[PI3K pathway inhibitor]	[]	Resistant	Case report		PMID:26759240	RDientsmann	04/16	BRCA		TRUE		PI3K pathway inhibitors	Breast adenocarcinoma
EGFR (E690K)	EGFR	MUT	EGFR:E690K		Approved	ERBB2 inhibitor	Lapatinib	Responsive	Case report		PMID:22885469	RDientsmann		ED		TRUE		Lapatinib (ERBB2 inhibitor)	Endometrium
EGFR exon 19 deletions	EGFR	MUT	EGFR::consequence::inframe_deletion:729-761		Approved	EGFR inhibitor 3rd gen	Osimertinib	Responsive	Early trials		NCT02465060	CRubio-Perez	01/16	L		TRUE		Osimertinib (EGFR inhibitor 3rd gen)	Lung
EGFR exon 20 insertions	EGFR	MUT	EGFR::consequence::inframe_insertion:762-823		Approved	EGFR inhibitor 3rd gen	Osimertinib	Responsive	NCCN guidelines		PMID:26515464	RDientsmann	12/16	L		TRUE	Insertion exon 20	Osimertinib (EGFR inhibitor 3rd gen)	Lung
PTEN oncogenic mutation	PTEN	MUT	PTEN:.			[EGFR mAb inhibitor]	[]	Resistant	Late trials		PMID:21163703;PMID:19398573	RDientsmann		COREAD		TRUE		EGFR mAb inhibitors	Colorectal adenocarcinoma
PTEN deletion	PTEN	CNA	PTEN:del			[EGFR mAb inhibitor]	[]	Resistant	Late trials		PMID:21163703;PMID:19398573	RDientsmann		COREAD		TRUE		EGFR mAb inhibitors	Colorectal adenocarcinoma
PTEN oncogenic mutation	PTEN	MUT	PTEN:.			[MTOR inhibitor]	[]	No Responsive	Early trials		PMID:21788564;PMID:23238879	RDientsmann	01/16	ED		TRUE		MTOR inhibitors	Endometrium
EGFR (L858R)	EGFR	MUT	EGFR:L858R		Approved	EGFR inhibitor 3rd gen	Osimertinib	Responsive	NCCN guidelines		NCCN Non-Small Cell Lung Cancer 2022;PMID:30659024	CRubio-Perez;RShadrina;SDemajo	01/16	NSCLC		TRUE		Osimertinib (EGFR inhibitor 3rd gen)	Non-Small Cell Lung Cancer
EGFR (T790M)	EGFR	MUT	EGFR:T790M		Approved	EGFR inhibitor 3rd gen	Osimertinib	Responsive	FDA guidelines		FDA	RDientsmann	01/16	NSCLC		TRUE		Osimertinib (EGFR inhibitor 3rd gen)	Non-small cell lung
PTEN deletion	PTEN	CNA	PTEN:del			[MTOR inhibitor]	[]	No Responsive	Early trials		PMID:21788564;PMID:23238879	RDientsmann	01/16	ED		TRUE		MTOR inhibitors	Endometrium
PTEN oncogenic mutation + BRAF oncogenic mutation	PTEN;BRAF	MUT;MUT	PTEN:.;BRAF:.			[BRAF inhibitor]	[]	Resistant	Early trials		http://ascopubs.org/doi/abs/10.1200/PO.16.00054	RDientsmann	07/17	CM		TRUE		BRAF inhibitors	Cutaneous melanoma
EGFR (S492R)	EGFR	MUT	EGFR:S492R			EGFR mAb inhibitor	Panitumumab	Responsive	Case report		PMID:22270724	RDientsmann	01/16	COREAD		TRUE		Panitumumab (EGFR mAb inhibitor)	Colorectal adenocarcinoma
EGFR inframe deletion (6-273)	EGFR	MUT	EGFR::consequence::inframe_deletion:6-273	Indirect	Clinical Trials	Vaccine	Rindopepimut	Responsive	Late trials		NCT01480479	MMartínez	09/15	GB		TRUE	he EGFRvIII variant receptor is characterized by a deletion of exons 2–7 of the wild type (Wt) EGFR gene. This results in an in-frame truncation of amino acids (AA) 6 to 273 in the extracellular domain of the full length protein,	Rindopepimut (Vaccine)	Glioblastoma
PTEN deletion + BRAF oncogenic mutation	PTEN;BRAF	CNA;MUT	PTEN:del;BRAF:.			[BRAF inhibitor]	[]	Resistant	Early trials		http://ascopubs.org/doi/abs/10.1200/PO.16.00054	RDientsmann	07/17	CM		TRUE		BRAF inhibitors	Cutaneous melanoma
EPHA2 (G391R)	EPHA2	MUT	EPHA2:G391R			[MTOR inhibitor]	[]	Responsive	Pre-clinical		PMID:20360610	RDientsmann	01/16	LUSC		TRUE		MTOR inhibitors	Lung squamous cell
EPHA2 (G391R)	EPHA2	MUT	EPHA2:G391R			[MTOR inhibitor]	[]	Responsive	Pre-clinical		PMID:20360610	RDientsmann		LUSC		TRUE		MTOR inhibitors	Lung squamous cell
EPHA2 amplification	EPHA2	CNA	EPHA2:amp			BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Pre-clinical		PMID:18047674;PMID:19010823;PMID:19861960	RDientsmann	01/16	CANCER		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Any cancer type
EPHA2 amplification	EPHA2	CNA	EPHA2:amp			BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Pre-clinical		PMID:18047674;PMID:19010823;PMID:19861960	RDientsmann		CANCER		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Any cancer type
EPHA2 (G391R)	EPHA2	MUT	EPHA2:G391R			BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Pre-clinical		PMID:20360610	RDientsmann	01/16	LUSC		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Lung squamous cell
EPHA2 (G391R)	EPHA2	MUT	EPHA2:G391R			BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Pre-clinical		PMID:20360610	RDientsmann		LUSC		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Lung squamous cell
EPHA3 amplification	EPHA3	CNA	EPHA3:amp			[EPHA3 inhibitor]	[]	Responsive	Pre-clinical		PMID:25125683	RDientsmann	01/16	CANCER		TRUE		EPHA3 inhibitors	Any cancer type
EPHA3 amplification	EPHA3	CNA	EPHA3:amp			[EPHA3 inhibitor]	[]	Responsive	Pre-clinical		PMID:25125683	RDientsmann		CANCER		TRUE		EPHA3 inhibitors	Any cancer type
PTEN oncogenic mutation + BRAF oncogenic mutation	PTEN;BRAF	MUT;MUT	PTEN:.;BRAF:.			[MEK inhibitor]	[]	Resistant	Pre-clinical		PMID:23039341	RDientsmann	01/16	CM		TRUE		MEK inhibitors	Cutaneous melanoma
PTEN deletion + BRAF oncogenic mutation	PTEN;BRAF	CNA;MUT	PTEN:del;BRAF:.			[MEK inhibitor]	[]	Resistant	Pre-clinical		PMID:23039341	RDientsmann	01/16	CM		TRUE		MEK inhibitors	Cutaneous melanoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			[ERBB2 inhibitor;CDK4/6 inhibitor]	[]	Responsive	Pre-clinical		PMID:26977878	RDientsmann	04/16	BRCA		TRUE		ERBB2 inhibitor + CDK4/6 inhibitors	Breast adenocarcinoma
ERBB2 proximal exon 20	ERBB2	MUT	ERBB2::consequence::inframe_insertion:775-881			[ERBB2 inhibitor]	[Afatinib,Lapatinib,Neratinib]	Responsive	Early trials		PMID:26598547	RDientsmann		LUAD		TRUE		ERBB2 inhibitors (Afatinib,Lapatinib,Neratinib,etc)	Lung adenocarcinoma
ERBB2 proximal exon 20	ERBB2	MUT	ERBB2::consequence::inframe_insertion:775-881			[ERBB2 mAb inhibitor]	[Trastuzumab]	Responsive	Early trials		PMID:26598547	RDientsmann		LUAD		TRUE		ERBB2 mAb inhibitors (Trastuzumab,etc)	Lung adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			EGFR mAb inhibitor	Ado-Trastuzumab Emtansine	Responsive	FDA guidelines		FDA	RDientsmann	04/16	BRCA		TRUE		Ado-Trastuzumab Emtansine (EGFR mAb inhibitor)	Breast adenocarcinoma
ERBB2 overexpression	ERBB2	EXPR	ERBB2:over		Approved	ERBB2 mAb inhibitor	Ado-Trastuzumab Emtansine	Responsive	FDA guidelines		FDA	CRubio-Perez		BRCA		TRUE		Ado-Trastuzumab Emtansine (ERBB2 mAb inhibitor)	Breast adenocarcinoma
ERBB2 inframe insertion (A775YVMA),inframe insertion (G776VC)	ERBB2	MUT	ERBB2::consequence::inframe_insertion:A775YVMA,::inframe_insertion:G776VC			ERBB2 mAb inhibitor	Ado-Trastuzumab Emtansine	Responsive	Early trials		ASCO 2017 (abstr 8510)	RDientsmann	07/17	L		TRUE		Ado-Trastuzumab Emtansine (ERBB2 mAb inhibitor)	Lung
ERBB2 (V659E,S310F)	ERBB2	MUT	ERBB2:V659E,S310F			ERBB2 mAb inhibitor	Ado-Trastuzumab Emtansine	Responsive	Early trials		ASCO 2017 (abstr 8510)	RDientsmann	07/17	L		TRUE		Ado-Trastuzumab Emtansine (ERBB2 mAb inhibitor)	Lung
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			ERBB2&EGFR inhibitor 2nd gen	Afatinib	Responsive	Case report		AACR 2014 (abstr CT228)	RDientsmann	01/16	ST		TRUE		Afatinib (ERBB2&EGFR inhibitor 2nd gen)	Stomach
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			ERBB2&EGFR inhibitor 2nd gen	Afatinib	Responsive	Late trials		PMID:20142587;PMID:22418700;PMID:23632474	RDientsmann	04/16	BRCA		TRUE		Afatinib (ERBB2&EGFR inhibitor 2nd gen)	Breast adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			ERBB2&EGFR inhibitor 2nd gen	Afatinib	Responsive	Case report		PMID:27044931	RDientsmann	07/16	BLCA		TRUE		Afatinib (ERBB2&EGFR inhibitor 2nd gen)	Bladder
ERBB2 proximal exon 20	ERBB2	MUT	ERBB2::consequence::inframe_insertion:775-881			ERBB2&EGFR inhibitor 2nd gen	Afatinib	Responsive	Early trials		PMID:26598547;ASCO 2017 (abstr 9071)	RDientsmann	07/17	LUAD		TRUE		Afatinib (ERBB2&EGFR inhibitor 2nd gen)	Lung adenocarcinoma
ERBB2 (T798I)	ERBB2	MUT	ERBB2:T798I			ERBB2&EGFR inhibitor 2nd gen	Afatinib	Responsive	Pre-clinical		PMID:28274957	RDientsmann	07/17	BRCA		TRUE		Afatinib (ERBB2&EGFR inhibitor 2nd gen)	Breast adenocarcinoma
ERBB2 oncogenic mutation	ERBB2	MUT	ERBB2:.			Pan ERBB inhibitor	Dacomitinib	Responsive	Early trials		PMID:25899785	EArriola	06/16	NSCLC		TRUE		Dacomitinib (Pan ERBB inhibitor)	Non-small cell lung
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			ERBB2 inhibitor;Chemotherapy	Lapatinib;Capecitabine	Responsive	FDA guidelines		FDA:https://www.accessdata.fda.gov/drugsatfda_docs/label/2018/022059s023lbl.pdf;PMID:17192538	RDientsmann;CRubio-Perez;SDemajo	04/16	BRCA		TRUE	For the treatment of patients with advanced or metastatic breast cancer whose tumors overexpress human epidermal growth factor receptor 2 (HER2) and who have received prior therapy including an anthracycline, a taxane, and trastuzumab.	Lapatinib (ERBB2 inhibitor);Capecitabine (Chemotherapy)	Breast adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			ERBB2 inhibitor	Lapatinib	Responsive	Early trials		PMID:26022204	RDientsmann	07/17	BT		TRUE		Lapatinib (ERBB2 inhibitor)	Billiary tract
ERBB2 (D769Y,D769H,R896C,V777L,V842I,G309A)	ERBB2	MUT	ERBB2:D769Y,D769H,R896C,V777L,V842I,G309A			ERBB2 inhibitor	Lapatinib	Responsive	Pre-clinical		PMID:23220880	RDientsmann		BRCA		TRUE		Lapatinib (ERBB2 inhibitor)	Breast adenocarcinoma
RAC1 (P29S) + BRAF oncogenic mutation	RAC1;BRAF	MUT;MUT	RAC1:P29S;BRAF:.			[BRAF inhibitor]	[]	Resistant	Case report		PMID:25056119	RDientsmann	01/16	CM		TRUE		BRAF inhibitors	Cutaneous melanoma
ERBB2 overexpression	ERBB2	EXPR	ERBB2:over		Approved	ERBB2 inhibitor;Chemotherapy	Lapatinib;Capecitabine	Responsive	FDA guidelines		FDA:https://www.accessdata.fda.gov/drugsatfda_docs/label/2018/022059s023lbl.pdf;PMID:17192538	CRubio-Perez;SDemajo		BRCA		TRUE	For the treatment of patients with advanced or metastatic breast cancer whose tumors overexpress human epidermal growth factor receptor 2 (HER2) and who have received prior therapy including an anthracycline, a taxane, and trastuzumab.	Lapatinib (ERBB2 inhibitor);Capecitabine (Chemotherapy)	Breast adenocarcinoma
ERBB2 (V659E)	ERBB2	MUT	ERBB2:V659E			ERBB2 inhibitor	Lapatinib	Responsive	Case report		PMID:23950206	RDientsmann		BRCA;LUAD		TRUE		Lapatinib (ERBB2 inhibitor)	Breast adenocarcinoma;Lung adenocarcinoma
ERBB2 proximal exon 20	ERBB2	MUT	ERBB2::consequence::inframe_insertion:775-881			ERBB2 inhibitor	Lapatinib	Responsive	Early trials		PMID:26598547;ASCO 2017 (abstr 9071)	RDientsmann	07/17	LUAD		TRUE		Lapatinib (ERBB2 inhibitor)	Lung adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			ERBB2 inhibitor;Chemotherapy	Lapatinib;Chemotherapy	Responsive	Early trials		PMID:25694417;NCT02015169	RDientsmann	01/16	ST		TRUE		Lapatinib + Chemotherapy (ERBB2 inhibitor + Chemotherapy)	Stomach
ERBB2 overexpression	ERBB2	EXPR	ERBB2:over			Allosteric AKT inhibitor;ERBB2 mAb inhibitor	MK2206;Trastuzumab	Responsive	Early trials		ASCO 2013 (abstr 2605);PMID:26104654	DCasadevall		SOLID		TRUE		MK2206 + Trastuzumab (Allosteric AKT inhibitor + ERBB2 mAb inhibitor)	Solid tumors
ERBB2 inframe deletion (755-759),inframe insertion (780GSP),inframe insertion (781GSP)	ERBB2	MUT	ERBB2::consequence::inframe_deletion:755-759,::inframe_insertion:.780GSP,::inframe_insertion:.781GSP			ERBB2 inhibitor	Neratinib	Responsive	Pre-clinical		PMID:23220880	RDientsmann		BRCA		TRUE		Neratinib (ERBB2 inhibitor)	Breast adenocarcinoma
ERBB2 oncogenic mutation	ERBB2	MUT	ERBB2:.			ERBB2 inhibitor	Neratinib	Responsive	Early trials		ESMO 2014 (abstr LBA39_PR)	RDientsmann		LUAD		TRUE		Neratinib (ERBB2 inhibitor)	Lung adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			ERBB2 inhibitor	Neratinib	Responsive	Late trials		PMID:20142587;PMID:22418700;PMID:23632474	RDientsmann	04/16	BRCA		TRUE		Neratinib (ERBB2 inhibitor)	Breast adenocarcinoma
ERBB2 (K753E)	ERBB2	MUT	ERBB2:K753E			ERBB2 inhibitor	Neratinib	Responsive	Pre-clinical		PMID:27697991	RDientsmann	12/16	BRCA		TRUE		Neratinib (ERBB2 inhibitor)	Breast adenocarcinoma
ERBB2 (L755S,G309A,D769Y,D769H,R896C,V777L,V842I)	ERBB2	MUT	ERBB2:L755S,G309A,D769Y,D769H,R896C,V777L,V842I			ERBB2 inhibitor	Neratinib	Responsive	Pre-clinical		PMID:23220880	RDientsmann		BRCA		TRUE		Neratinib (ERBB2 inhibitor)	Breast adenocarcinoma
ERBB2 proximal exon 20	ERBB2	MUT	ERBB2::consequence::inframe_insertion:775-881			ERBB2 inhibitor	Neratinib	Responsive	Early trials		PMID:26598547;ASCO 2017 (abstr 9071)	RDientsmann	07/17	LUAD		TRUE		Neratinib (ERBB2 inhibitor)	Lung adenocarcinoma
ERBB2 (L869R)	ERBB2	MUT	ERBB2:L869R			ERBB2 inhibitor	Neratinib	Responsive	Case report		PMID:28274957	RDientsmann	07/17	BRCA		TRUE		Neratinib (ERBB2 inhibitor)	Breast adenocarcinoma
ERBB2 (S310,L755,V777)	ERBB2	MUT	ERBB2:S310.,L755.,V777.			ERBB2 inhibitor	Neratinib	Responsive	Early trials		AACR 2017 (abstr CT001)	RDientsmann	07/17	CANCER		TRUE		Neratinib (ERBB2 inhibitor)	Any cancer type
ERBB2 inframe insertion (P780GSP),inframe insertion (781GSP),inframe insertion (A775YVMA),inframe insertion (G776YVMA)	ERBB2	MUT	ERBB2::consequence::inframe_insertion:P780GSP,::inframe_insertion:.781GSP,::inframe_insertion:A775YVMA,::inframe_insertion:G776YVMA			ERBB2 inhibitor	Neratinib	Responsive	Early trials		AACR 2017 (abstr CT001)	RDientsmann	07/17	CANCER		TRUE		Neratinib (ERBB2 inhibitor)	Any cancer type
RAC1 (P29S) + BRAF oncogenic mutation	RAC1;BRAF	MUT;MUT	RAC1:P29S;BRAF:.			[BRAF inhibitor]	[]	Resistant	Case report		PMID:25056119	RDientsmann		CM		TRUE		BRAF inhibitors	Cutaneous melanoma
RAF1 (S257P,G361A,P261P) + BRAF oncogenic mutation	RAF1;BRAF	MUT;MUT	RAF1:S257P,G361A,P261P;BRAF:.			[BRAF inhibitor]	[]	Resistant	Pre-clinical		PMID:23737487	RDientsmann		CM		TRUE		BRAF inhibitors	Cutaneous melanoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			ERBB2 mAb inhibitor	Pertuzumab	Responsive	Early trials		PMID:24960402	RDientsmann	01/16	ST		TRUE		Pertuzumab (ERBB2 mAb inhibitor)	Stomach
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			ERBB2 mAb inhibitor	Pertuzumab	Responsive	FDA guidelines		FDA	RDientsmann;CRubio-Perez	04/16	BRCA		TRUE		Pertuzumab (ERBB2 mAb inhibitor)	Breast adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			ERBB2 mAb inhibitor	Pertuzumab	Responsive	Early trials		PMID:26022204	RDientsmann	07/17	BT		TRUE		Pertuzumab (ERBB2 mAb inhibitor)	Billiary tract
ERBB2 overexpression	ERBB2	EXPR	ERBB2:over		Approved	ERBB2 mAb inhibitor	Pertuzumab	Responsive	FDA guidelines		FDA	CRubio-Perez		BRCA		TRUE		Pertuzumab (ERBB2 mAb inhibitor)	Breast adenocarcinoma
ERBB2 oncogenic mutation	ERBB2	MUT	ERBB2:.			MTOR inhibitor	Tensirolimus	Responsive	Early trials		ESMO 2014 (abstr LBA39_PR)	RDientsmann		LUAD		TRUE		Tensirolimus (MTOR inhibitor)	Lung adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			ERBB2 mAb inhibitor	Trastuzumab	Responsive	FDA guidelines		FDA	CRubio-Perez	04/16	ST;GEJA		TRUE		Trastuzumab (ERBB2 mAb inhibitor)	Stomach;Gastroesophageal junction adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			ERBB2 mAb inhibitor	Trastuzumab	Responsive	FDA guidelines		FDA	RDientsmann;CRubio-Perez	04/16	BRCA		TRUE	In combination with adjuvant chemotherapy	Trastuzumab (ERBB2 mAb inhibitor)	Breast adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			ERBB2 mAb inhibitor	Trastuzumab	Responsive	Early trials		PMID:26022204	RDientsmann	07/17	BT		TRUE		Trastuzumab (ERBB2 mAb inhibitor)	Billiary tract
STK11 oncogenic mutation	STK11	MUT	STK11:.			[BET inhibitor]	[]	Resistant	Pre-clinical		PMID:23129625;PMID:24045185	RDientsmann	04/16	L		TRUE		BET inhibitors	Lung
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			ERBB2 mAb inhibitor	Trastuzumab	Responsive	Case report		PMID:21380780	RDientsmann		HNC		TRUE		Trastuzumab (ERBB2 mAb inhibitor)	Head an neck
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			ERBB2 mAb inhibitor	Trastuzumab	Responsive	Early trials		PMID:20003286;PMID:12525520	RDientsmann		OV		TRUE		Trastuzumab (ERBB2 mAb inhibitor)	Ovary
ERBB2 (D769Y,D769H,R896C,G309E,S310F,S310Y,C311R)	ERBB2	MUT	ERBB2:D769Y,D769H,R896C,G309E,S310F,S310Y,C311R			ERBB2 mAb inhibitor	Trastuzumab	Responsive	Pre-clinical		PMID:23220880;PMID:22908275	RDientsmann		BRCA;CANCER		TRUE		Trastuzumab (ERBB2 mAb inhibitor)	Breast adenocarcinoma;Any cancer type
ERBB2 (G309E,S310F,S310Y,C311R,E321G,C334S)	ERBB2	MUT	ERBB2:G309E,S310F,S310Y,C311R,E321G,C334S			ERBB2 mAb inhibitor	Trastuzumab	Responsive	Pre-clinical		PMID:22908275	RDientsmann		CANCER		TRUE		Trastuzumab (ERBB2 mAb inhibitor)	Any cancer type
ERBB2 (G776L)	ERBB2	MUT	ERBB2:G776L			ERBB2 mAb inhibitor	Trastuzumab	Responsive	Case report		PMID:16775247	RDientsmann		LUAD		TRUE		Trastuzumab (ERBB2 mAb inhibitor)	Lung adenocarcinoma
ERBB2 overexpression	ERBB2	EXPR	ERBB2:over		Approved	ERBB2 mAb inhibitor	Trastuzumab	Responsive	FDA guidelines		FDA	CRubio-Perez		BRCA		TRUE	In combination with adjuvant chemotherapy	Trastuzumab (ERBB2 mAb inhibitor)	Breast adenocarcinoma
ERBB2 overexpression	ERBB2	EXPR	ERBB2:over		Approved	ERBB2 mAb inhibitor	Trastuzumab	Responsive	FDA guidelines		FDA	CRubio-Perez		ST;GEJA		TRUE		Trastuzumab (ERBB2 mAb inhibitor)	Stomach;Gastroesophageal junction adenocarcinoma
ERBB2 proximal exon 20	ERBB2	MUT	ERBB2::consequence::inframe_insertion:775-881			ERBB2 mAb inhibitor	Trastuzumab	Responsive	Early trials		PMID:26598547;ASCO 2017 (abstr 9071)	RDientsmann	07/17	LUAD		TRUE		Trastuzumab (ERBB2 mAb inhibitor)	Lung adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			ERBB2 mAb inhibitor	Ado-Trastuzumab Emtansine	Responsive	Case report		http://ascopubs.org/doi/full/10.1200/PO.16.00055	RDientsmann	07/17	COREAD		TRUE		Ado-Trastuzumab Emtansine (ERBB2 mAb inhibitor)	Colorectal adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			ERBB2 mAb inhibitor;MTOR inhibitor;Chemotherapy	Trastuzumab;Everolimus;Chemotherapy	Responsive	Early trials		PMID:21107682;PMID:20975068	RDientsmann	04/16	BRCA		TRUE		Trastuzumab + Everolimus + Chemotherapy (ERBB2 mAb inhibitor + MTOR inhibitor + Chemotherapy)	Breast adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			ERBB2 mAb inhibitor;HSP90 inhibitor	Trastuzumab;HSP90 inhibitor	Responsive	Early trials		PMID:21558407	RDientsmann	04/16	BRCA		TRUE		Trastuzumab + HSP90 inhibitor (ERBB2 mAb inhibitor + HSP90 inhibitor)	Breast adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			ERBB2 mAb inhibitor;ERBB2 inhibitor	Trastuzumab;Lapatinib	Responsive	Late trials		ASCO 2015 (abstr 3508);NCT01104571;EBCC10	RDientsmann	01/16	COREAD		TRUE		Trastuzumab + Lapatinib (ERBB2 mAb inhibitor + ERBB2 inhibitor)	Colorectal adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			ERBB2 mAb inhibitor;ERBB2 inhibitor	Trastuzumab;Lapatinib	Responsive	Pre-clinical		PMID:25294905	RDientsmann	01/16	ED		TRUE		Trastuzumab + Lapatinib (ERBB2 mAb inhibitor + ERBB2 inhibitor)	Endometrium
ERBB2 expression + ESR1 overexpression	ERBB2;ESR1	EXPR;EXPR	ERBB2:norm;ESR1:over		Approved	[Hormonal therapy]	[Tamoxifen,Letrozole,Anastrozole,Exemestane,Fulvestrant,LHRH analogues or antagonist]	Responsive	FDA guidelines		FDA	JAlbanell;ARovira	09/15	BRCA		TRUE		Hormonal therapys (Tamoxifen,Letrozole,Anastrozole,Exemestane,Fulvestrant,LHRH analogues or antagonist,etc)	Breast adenocarcinoma
ERBB2 expression + ESR1 overexpression	ERBB2;ESR1	EXPR;EXPR	ERBB2:norm;ESR1:over			CDK4/6 inhibitor	Abemaciclib	Responsive	Early trials		PMID:26658964	DTamborero;CRubio-Perez	04/16	BRCA		TRUE		Abemaciclib (CDK4/6 inhibitor)	Breast adenocarcinoma
ERBB2 expression + ESR1 overexpression	ERBB2;ESR1	EXPR;EXPR	ERBB2:norm;ESR1:over		Approved	MTOR inhibitor	Everolimus	Responsive	FDA guidelines		FDA	JAlbanell;ARovira	09/15	BRCA		TRUE	HER2- (not overexpressed and not amplified) and ER+ (>1% positive tumor cells)	Everolimus (MTOR inhibitor)	Breast adenocarcinoma
ERBB2 expression -	ERBB2	EXPR	ERBB2:norm		Approved	CDK4/6 inhibitor	Palbociclib	Responsive	FDA guidelines		FDA: https://www.fda.gov/drugs/resources-information-approved-drugs/palbociclib-ibrance	CRubio-Perez;RShadrina;SDemajo		BRCA		TRUE	Indicated for the treatment of hormone receptor (HR)-positive, human epidermal growth factor receptor 2 (HER2)-negative advanced or metastatic breast cancer in combination with: an aromatase inhibitor as initial endocrine based therapy in postmenopausal women; or fulvestrant in women with disease progression following endocrine therapy.	Palbociclib (CDK4/6 inhibitor)	Breast adenocarcinoma
STK11 oncogenic mutation + KRAS oncogenic mutation	STK11;KRAS	MUT;MUT	STK11:.;KRAS:.			[PD1 Ab inhibitor]	[]	Resistant	Early trials		ASCO 2017 (abstr 9016)	RDientsmann	07/17	LUAD		TRUE		PD1 Ab inhibitors	Lung adenocarcinoma
ERBB3 (P262H,G284R)	ERBB3	MUT	ERBB3:P262H,G284R			[ERBB3 mAb inhibitor]	[]	Responsive	Pre-clinical		PMID:23680147	RDientsmann		CANCER		TRUE		ERBB3 mAb inhibitors	Any cancer type
ERBB3 (P262H,G284R,Q809R)	ERBB3	MUT	ERBB3:P262H,G284R,Q809R			[PI3K pathway inhibitor;MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:23680147	RDientsmann		CANCER		TRUE		PI3K pathway inhibitor + MEK inhibitors	Any cancer type
ERBB3 (G284R,R103G)	ERBB3	MUT	ERBB3:G284R,R103G			ERBB2&EGFR inhibitor 2nd gen	Afatinib	Responsive	Case report		ASCO 2015 (abstr e15516)	RDientsmann		BLCA		TRUE		Afatinib (ERBB2&EGFR inhibitor 2nd gen)	Bladder
ERBB3 (G284R,V104M,R103G)	ERBB3	MUT	ERBB3:G284R,V104M,R103G			ERBB2&EGFR inhibitor 2nd gen	Afatinib	Responsive	Case report		PMID:27044931	RDientsmann	07/16	BLCA		TRUE		Afatinib (ERBB2&EGFR inhibitor 2nd gen)	Bladder
ERBB3 (P262H,G284R,Q809R)	ERBB3	MUT	ERBB3:P262H,G284R,Q809R			ERBB2 inhibitor	Lapatinib	Responsive	Pre-clinical		PMID:23680147	RDientsmann		CANCER		TRUE		Lapatinib (ERBB2 inhibitor)	Any cancer type
ERBB3 (P262H,G284R)	ERBB3	MUT	ERBB3:P262H,G284R			ERBB2 mAb inhibitor	Pertuzumab	Responsive	Pre-clinical		PMID:23680147	RDientsmann		CANCER		TRUE		Pertuzumab (ERBB2 mAb inhibitor)	Any cancer type
ERBB3 (P262H,G284R,Q809R)	ERBB3	MUT	ERBB3:P262H,G284R,Q809R			ERBB2 mAb inhibitor	Trastuzumab	Responsive	Pre-clinical		PMID:23680147	RDientsmann		CANCER		TRUE		Trastuzumab (ERBB2 mAb inhibitor)	Any cancer type
STK11 deletion + KRAS oncogenic mutation	STK11;KRAS	CNA;MUT	STK11:del;KRAS:.			[PD1 Ab inhibitor]	[]	Resistant	Early trials		ASCO 2017 (abstr 9016)	RDientsmann	07/17	LUAD		TRUE		PD1 Ab inhibitors	Lung adenocarcinoma
ERBB4 (E317K,E452K,R544W,R393W,E872K)	ERBB4	MUT	ERBB4:E317K,E452K,R544W,R393W,E872K			ERBB2 inhibitor	Lapatinib	Responsive	Pre-clinical		PMID:19718025	RDientsmann		CM		TRUE		Lapatinib (ERBB2 inhibitor)	Cutaneous melanoma
ERBB4 fusion	ERBB4	FUS	ERBB4__.			ERBB2 inhibitor;ERBB2 inhibitor&EGFR inhibitor 2nd gen	Lapatinib;Afatinib	Responsive	Pre-clinical		PMID:24727320	RDientsmann		LUAD		TRUE		Lapatinib + Afatinib (ERBB2 inhibitor + ERBB2 inhibitor&EGFR inhibitor 2nd gen)	Lung adenocarcinoma
ERCC1 oncogenic mutation	ERCC1	MUT	ERCC1:.			[PARP inhibitor]	[]	Responsive	Pre-clinical		PMID:23934192	RDientsmann		L		TRUE		PARP inhibitors	Lung
ERCC1 deletion	ERCC1	CNA	ERCC1:del			[PARP inhibitor]	[]	Responsive	Pre-clinical		PMID:23934192	RDientsmann		L		TRUE		PARP inhibitors	Lung
ERCC1 oncogenic mutation	ERCC1	MUT	ERCC1:.			Chemotherapy	Cisplatin	Responsive	Pre-clinical		PMID:23275151;PMID:23934192	RDientsmann	01/16	L		TRUE		Cisplatin (Chemotherapy)	Lung
ERCC1 deletion	ERCC1	CNA	ERCC1:del			Chemotherapy	Cisplatin	Responsive	Pre-clinical		PMID:23275151;PMID:23934192	RDientsmann	01/16	L		TRUE		Cisplatin (Chemotherapy)	Lung
TP53 oncogenic mutation	TP53	MUT	TP53:.			[MDM2 inhibitor]	[]	Resistant	Early trials		PMID:23084521;ASCO 2015 (abstr 10564)	RDientsmann	01/16	LIP		TRUE		MDM2 inhibitors	Liposarcoma
ERCC2 oncogenic mutation	ERCC2	MUT	ERCC2:.			Chemotherapy	Cisplatin	Responsive	Early trials		PMID:25096233	RDientsmann		BLCA		TRUE		Cisplatin (Chemotherapy)	Bladder
ERCC4 oncogenic mutation	ERCC4	MUT	ERCC4:.			Chemotherapy	Cisplatin	Responsive	Pre-clinical		PMID:25634215	RDientsmann		OV		TRUE		Cisplatin (Chemotherapy)	Ovary
ERCC6 oncogenic mutation	ERCC6	MUT	ERCC6:.			Chemotherapy	Cisplatin	Responsive	Pre-clinical		PMID:25634215	RDientsmann		OV		TRUE		Cisplatin (Chemotherapy)	Ovary
EREG amplification	EREG	CNA	EREG:amp			[EGFR mAb inhibitor]	[]	Responsive	Early trials		PMID:19738126;PMID:26341080	RDientsmann	04/16	COREAD		TRUE		EGFR mAb inhibitors	Colorectal adenocarcinoma
ZBTB16 undexpression	ZBTB16	EXPR	ZBTB16:under			[LHRH analogues or antagonist]	[]	Resistant	Pre-clinical		PMID:16637071	ARodriguez-Vida	09/15	PRAD	PR	TRUE		LHRH analogues or antagonists	Prostate adenocarcinoma
ESR1 (E380Q,537,538,L536,P535H)	ESR1	MUT	ESR1:E380Q,.537.,.538.,L536.,P535H			[novel ER degrader]	[GDC-0810]	Responsive	Case report		AACR 2015 (abstr CT231)	RDientsmann	01/16	BRCA		TRUE		novel ER degraders (GDC-0810,etc)	Breast adenocarcinoma
NTRK1 (G595R,G667C)	NTRK1	MUT	NTRK1:G595R,G667C			[Pan-TK inhibitor]	[Entrectinib]	Resistant	Case report		PMID:26546295	RDientsmann	11/15	COREAD		TRUE		Pan-TK inhibitors (Entrectinib,etc)	Colorectal adenocarcinoma
ESR1 oncogenic mutation	ESR1	MUT	ESR1:.			Hormonal therapy	Fluvestrant	Responsive	Late trials		PMID:27269946	RDientsmann	06/16	BRCA		TRUE		Fluvestrant (Hormonal therapy)	Breast adenocarcinoma
ERBB4 (H809G)	ERBB4	MUT	ERBB4:H809G			[ERBB2 inhibitor]	[Lapatinib]	Resistant	Case report		PMID:26530965	RDientsmann	11/15	BRCA		TRUE		ERBB2 inhibitors (Lapatinib,etc)	Breast adenocarcinoma
ABL1 (T315I)	ABL1	MUT	ABL1:T315I		Approved	[BCR-ABL inhibitor 2nd gen]	[Nilotinib,Dasatinib]	Resistant	European LeukemiaNet guidelines		PMID:21562040	CRubio-Perez	12/15	CML		TRUE	Has to be rechecked	BCR-ABL inhibitor 2nd gens (Nilotinib,Dasatinib,etc)	Chronic myeloid leukemia
EZH2 (Y641,A677)	EZH2	MUT	EZH2:Y641.,A677.	Direct	Pre-clinical	[EZH2 inhibitor]	[EPZ-005687,EPZ-6438]	Responsive	Pre-clinical	Cell line	PMID:23023262;PMID:24563539	RDientsmann;ECampo		LY		TRUE		EZH2 inhibitors (EPZ-005687,EPZ-6438,etc)	Lymphoma
FANCA oncogenic mutation	FANCA	MUT	FANCA:.			PARP inhibitor	Olaparib	Responsive	Case report		PMID:26510020	RDientsmann	01/16	PRAD		TRUE		Olaparib (PARP inhibitor)	Prostate adenocarcinoma
FANCA deletion	FANCA	CNA	FANCA:del			PARP inhibitor	Olaparib	Responsive	Case report		PMID:26510020	RDientsmann	01/16	PRAD		TRUE		Olaparib (PARP inhibitor)	Prostate adenocarcinoma
FANCC oncogenic mutation	FANCC	MUT	FANCC:.	Indirect	Approved	Chemotherapy	Cisplatin	Responsive	Early trials		PMID:26238431	ARodriguez-Vida	09/15	BLCA	BLCA	TRUE		Cisplatin (Chemotherapy)	Bladder
FANCC deletion	FANCC	CNA	FANCC:del	Indirect	Approved	Chemotherapy	Cisplatin	Responsive	Early trials		PMID:26238431	ARodriguez-Vida	09/15	BLCA	BLCA	TRUE		Cisplatin (Chemotherapy)	Bladder
FAT1 oncogenic mutation	FAT1	MUT	FAT1:.			[BET inhibitor]	[]	Responsive	Pre-clinical		PMID:27397505	RDientsmann	07/16	HNSC		TRUE		BET inhibitors	Head an neck squamous
FBXW7 oncogenic mutation	FBXW7	MUT	FBXW7:.			[Steroid]	[]	Responsive	Late trials		PMID:20861909	RDientsmann	01/16	ALL		TRUE		Steroids	Acute lymphoblastic leukemia
TP53 oncogenic mutation	TP53	MUT	TP53:.			CDK4/CDK6 inhibitor	Abemaciclib	Resistant	Early trials		PMID:27217383	RDientsmann	12/16	BRCA		TRUE		Abemaciclib (CDK4/CDK6 inhibitor)	Breast adenocarcinoma
FBXW7 deletion	FBXW7	CNA	FBXW7:del	Indirect	Approved	MTOR inhibitor	Sirolimus	Responsive	Pre-clinical	Cell line	PMID:23558291	CRubio-Perez		COREAD		TRUE		Sirolimus (MTOR inhibitor)	Colorectal adenocarcinoma
FGF3 amplification	FGF3	CNA	FGF3:amp			FGFR inhibitor	Dovitinib	Responsive	Early trials		PMID:23658459	RDientsmann		BRCA		TRUE		Dovitinib (FGFR inhibitor)	Breast adenocarcinoma
FGF3 amplification	FGF3	CNA	FGF3:amp	Indirect	Clinical Trials	FGFR inhibitor	Lucitanib	Responsive	Early trials		PMID:25193991	JAlbanell;ARovira	09/15	BRCA		TRUE		Lucitanib (FGFR inhibitor)	Breast adenocarcinoma
FGF4 amplification	FGF4	CNA	FGF4:amp			FGFR inhibitor	Dovitinib	Responsive	Early trials		PMID:23658459	RDientsmann		BRCA		TRUE		Dovitinib (FGFR inhibitor)	Breast adenocarcinoma
FGF4 amplification	FGF4	CNA	FGF4:amp	Indirect	Clinical Trials	FGFR inhibitor	Lucitanib	Responsive	Early trials		PMID:25193991	JAlbanell;ARovira	09/15	BRCA		TRUE		Lucitanib (FGFR inhibitor)	Breast adenocarcinoma
FGFR1 amplification	FGFR1	CNA	FGFR1:amp			[FGFR inhibitor]	[]	Responsive	Case report		PMID:27870574	RDientsmann	07/17	LUSC		TRUE		FGFR inhibitors	Lung squamous cell
FGFR1 amplification	FGFR1	CNA	FGFR1:amp			[FGFR inhibitor]	[]	Responsive	Case report		ASCO 2017 (abstr 2500)	RDientsmann	07/17	ED		TRUE		FGFR inhibitors	Endometrium
FGFR1 amplification	FGFR1	CNA	FGFR1:amp			[FGFR inhibitor]	[]	Responsive	Early trials		AACR 2012 (abstr LB-122);AACR 2013 (abstr LB-145)	RDientsmann		LUSC		TRUE		FGFR inhibitors	Lung squamous cell
FGFR1 amplification	FGFR1	CNA	FGFR1:amp			[FGFR inhibitor]	[]	Responsive	Pre-clinical		PMID:23418312	RDientsmann		HNC		TRUE		FGFR inhibitors	Head an neck
FGFR1 amplification	FGFR1	CNA	FGFR1:amp			[FGFR inhibitor]	[Lucitanib]	Responsive	Early trials		PMID:25193991	RDientsmann;JAlbanell		BRCA		TRUE		FGFR inhibitors (Lucitanib,etc)	Breast adenocarcinoma
AR amplification	AR	CNA	AR:amp		Approved	AR inhibitor	Abiraterone	Resistant	Early trials		PMID:26537258	RDientsmann	11/15	PRAD		TRUE		Abiraterone (AR inhibitor)	Prostate adenocarcinoma
AR (L702H,T878A)	AR	MUT	AR:L702H,T878A		Approved	AR inhibitor	Abiraterone	Resistant	Early trials		PMID:26537258	RDientsmann	11/15	PRAD		TRUE	REMAP:T877A to T878A the previous mutation was not found in . transcript to our knowledge.	Abiraterone (AR inhibitor)	Prostate adenocarcinoma
FGFR2 fusion	FGFR2	FUS	FGFR2__.			[FGFR inhibitor]	[]	Responsive	Early trials		ASCO 2016 (abstr 109)	RDientsmann		BT		TRUE		FGFR inhibitors	Billiary tract
FGFR2 inframe insertion (A266),inframe insertion (S267)	FGFR2	MUT	FGFR2::consequence::inframe_insertion:A266.,::inframe_insertion:S267.			[FGFR inhibitor]	[]	Responsive	Pre-clinical		PMID:26048680	RDientsmann	01/16	L		TRUE		FGFR inhibitors	Lung
FGFR2 amplification	FGFR2	CNA	FGFR2:amp			[FGFR inhibitor]	[]	Responsive	Early trials		ASCO 2015 (abstr 2508)	RDientsmann	01/16	ST		TRUE		FGFR inhibitors	Stomach
FGFR2 amplification	FGFR2	CNA	FGFR2:amp			[FGFR inhibitor]	[]	Responsive	Case report		PMID:25193991	RDientsmann	01/16	BRCA		TRUE		FGFR inhibitors	Breast adenocarcinoma
EGFR overexpression	EGFR	EXPR	EGFR:over		Approved	EGFR mAb inhibitor	Panitumumab	Resistant	FDA guidelines		FDA guidelines	CRubio-Perez;RDientsmann		COREAD		TRUE		Panitumumab (EGFR mAb inhibitor)	Colorectal adenocarcinoma
FGFR2 (S252W,N550K)	FGFR2	MUT	FGFR2:S252W,N550K			[FGFR inhibitor]	[]	Responsive	Pre-clinical		PMID:18552176;PMID:22238366;PMID:23002168	RDientsmann		ED		TRUE	REMAP: N549K to N500K to have all mutations in same transcript (ENST00000457416)	FGFR inhibitors	Endometrium
FGFR2 (V565I)	FGFR2	MUT	FGFR2:V565I			[FGFR inhibitor]	[]	Responsive	Pre-clinical		ENA 2014 (abstr 381)	RDientsmann	01/16	ED		TRUE		FGFR inhibitors	Endometrium
FGFR2 (W290C,S320C,K660N)	FGFR2	MUT	FGFR2:W290C,S320C,K660N			[FGFR inhibitor]	[]	Responsive	Pre-clinical		PMID:23786770;PMID:25035393	RDientsmann		LUSC		TRUE		FGFR inhibitors	Lung squamous cell
FGFR2 fusion	FGFR2	FUS	FGFR2__.			[FGFR inhibitor]	[]	Responsive	Early trials		ASCO 2017 (abstr 2500)	RDientsmann	07/17	COREAD		TRUE		FGFR inhibitors	Colorectal adenocarcinoma
ALK (I1171T)	ALK	MUT	ALK:I1171T			ALK inhibitor	Alectinib	Resistant	Case report		PMID:25228534	RDientsmann	01/16	LUAD		TRUE		Alectinib (ALK inhibitor)	Lung adenocarcinoma
FGFR2 (M536I,M538I,I548V,N550,E566G,L618M,K660E)	FGFR2	MUT	FGFR2:M536I,M538I,I548V,N550.,E566G,L618M,K660E			BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor	Ponatinib	Responsive	Pre-clinical		PMID:23908597	RDientsmann	01/16	ED		TRUE		Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)	Endometrium
FGFR3 fusion	FGFR3	FUS	FGFR3__.			[FGFR inhibitor]	[]	Responsive	Early trials		PMID:26324363	RDientsmann	01/16	G		TRUE		FGFR inhibitors	Glioma
FGFR3 oncogenic mutation	FGFR3	MUT	FGFR3:.			[FGFR inhibitor]	[]	Responsive	Early trials		PMID:27870574	RDientsmann	01/16	BLCA		TRUE		FGFR inhibitors	Bladder
FGFR3 (K650,Y373C)	FGFR3	MUT	FGFR3:K650.,Y373C			[FGFR inhibitor]	[]	Responsive	Pre-clinical		PMID:16091734;PMID:20439987;PMID:22869148	RDientsmann	01/16	MYMA		TRUE		FGFR inhibitors	Myeloma
FGFR3 (S249C,G691R)	FGFR3	MUT	FGFR3:S249C,G691R			[FGFR inhibitor]	[]	Responsive	Pre-clinical		PMID:27998968	RDientsmann	07/17	LUAD		TRUE		FGFR inhibitors	Lung adenocarcinoma
AR (F877L)	AR	MUT	AR:F877L			AR inhibitor	Arn-509	Resistant	Case report		PMID:23779130	RDientsmann;ARodriguez-Vida	09/15	PRAD	PRAD	TRUE	REMAP:F876L to F877L the previous mutation was not found in . transcript to our knowledge.	Arn-509 (AR inhibitor)	Prostate adenocarcinoma
FGFR3 fusion	FGFR3	FUS	FGFR3__.			[FGFR inhibitor]	[]	Responsive	Case report		PMID:26324363;ASCO 2017 (abstr 2500)	RDientsmann	07/17	BLCA		TRUE		FGFR inhibitors	Bladder
FGFR3 (K650)	FGFR3	MUT	FGFR3:K650.			Proteasome inhibitor	Bortezomib	Responsive	Pre-clinical		PMID:19331127;PMID:21273588	RDientsmann		MYMA		TRUE		Bortezomib (Proteasome inhibitor)	Myeloma
FGFR3-TACC3 fusion	FGFR3	FUS	FGFR3__TACC3			[FGFR inhibitor]		Responsive	Pre-clinical		PMID:25294908	EArriola	06/16	NSCLC		TRUE		FGFR inhibitors (,etc)	Non-small cell lung
FGFR4 (N535,V550)	FGFR4	MUT	FGFR4:N535.,V550.			[FGFR inhibitor]	[]	Responsive	Pre-clinical		PMID:19809159;PMID:24124571	RDientsmann	04/16	RHBDS		TRUE	REMAP:changed N535 and V550 from K535 and E550. Reference added by carlota	FGFR inhibitors	Rhabdomyosarcoma
FLCN oncogenic mutation	FLCN	MUT	FLCN:.			MTOR inhibitor	Everolimus	Responsive	Case report		PMID:23995526	RDientsmann	01/16	R		TRUE		Everolimus (MTOR inhibitor)	Renal
FLCN deletion	FLCN	CNA	FLCN:del			MTOR inhibitor	Everolimus	Responsive	Case report		PMID:25295501	RDientsmann	01/16	TH		TRUE		Everolimus (MTOR inhibitor)	Thyroid
FLT1 overexpression	FLT1	EXPR	VEGFR1:over	Direct	Approved	Pan-TK inhibitor	Sunitinib	Responsive	Pre-clinical	Cell line	PMID:24086736;PMID:21478036	ARodriguez-Vida	09/15	R		TRUE		Sunitinib (Pan-TK inhibitor)	Renal
FLT1 overexpression	FLT1	EXPR	VEGFR2:over	Direct	Approved	Pan-TK inhibitor	Sunitinib	Responsive	Pre-clinical	Cell line	PMID:24086736;PMID:21478036	ARodriguez-Vida	09/15	R		TRUE		Sunitinib (Pan-TK inhibitor)	Renal
FGFR3 (Y373C)	FGFR3	MUT	FGFR3:Y373C			Proteasome inhibitor	Bortezomib	Resistant	Pre-clinical		PMID:19331127;PMID:21273588	RDientsmann		MYMA		TRUE		Bortezomib (Proteasome inhibitor)	Myeloma
FLT3-ITD	FLT3	MUT	FLT3::consequence::inframe_variant:572-630			[FLT3 inhibitor]	[]	Responsive	Early trials		PMID:16857985	RDientsmann;SDemajo;RShadrina	01/16	AML		TRUE	ITD (codified as inframe) in Juxtamembrane domain	FLT3 inhibitors	Acute myeloid leukemia
FLT3 (F691)	FLT3	MUT	FLT3:F691.			[novel FLT3 inhibitor]	[]	Responsive	Pre-clinical		PMID:25847190	RDientsmann	01/16	AML		TRUE		novel FLT3 inhibitors	Acute myeloid leukemia
FLT3 (N676)	FLT3	MUT	FLT3:N676.			FLT3 inhibitor	Crenolanib	Responsive	Pre-clinical		PMID:24619500	RDientsmann	01/16	AML		TRUE		Crenolanib (FLT3 inhibitor)	Acute myeloid leukemia
FLT3 (D835)	FLT3	MUT	FLT3:D835.			Pan-TK inhibitor	Lestaurtinib	Responsive	Case report		PMID:16857985	RDientsmann	01/16	AML		TRUE		Lestaurtinib (Pan-TK inhibitor)	Acute myeloid leukemia
FLT3 (D835)	FLT3	MUT	FLT3:D835.			Pan-TK inhibitor	Midostaurin	Responsive	Case report		PMID:20733134	RDientsmann	01/16	AML		TRUE		Midostaurin (Pan-TK inhibitor)	Acute myeloid leukemia
FLT3 (N676)	FLT3	MUT	FLT3:N676.			Pan-TK inhibitor	Midostaurin	Responsive	Pre-clinical		PMID:24619500	RDientsmann	01/16	AML		TRUE		Midostaurin (Pan-TK inhibitor)	Acute myeloid leukemia
ABL1 (T315I)	ABL1	MUT	ABL1:T315I		Approved	BCR-ABL inhibitor 3rd gen	Bosutinib	Resistant	European LeukemiaNet guidelines		PMID:21562040	CRubio-Perez	12/15	CML		TRUE	Has to be rechecked	Bosutinib (BCR-ABL inhibitor 3rd gen)	Chronic myeloid leukemia
FLT3-ITD	FLT3	MUT	FLT3::consequence::inframe_variant:572-630			Pan-TK inhibitor	Quizartinib	Responsive	Early trials		ASH 2012 (abstr 673);ASH 2012 (abstr 48)	RDientsmann;SDemajo;RShadrina	01/16	AML		TRUE	ITD (codified as inframe) in Juxtamembrane domain	Quizartinib (Pan-TK inhibitor)	Acute myeloid leukemia
PTEN biallelic inactivation	PTEN	BIA	PTEN:.		Clinical Trials	PIK3CA inhibitor	BYL719	Resistant	Case report		PMID:25409150	DTamborero		BRCA		TRUE		BYL719 (PIK3CA inhibitor)	Breast adenocarcinoma
FLT3-ITD	FLT3	MUT	FLT3::consequence::inframe_variant:572-630			Pan-TK inhibitor	Sorafenib	Responsive	Early trials		PMID:19389879;PMID:22368270	RDientsmann;SDemajo;RShadrina	01/16	AML		TRUE	ITD (codified as inframe) in Juxtamembrane domain	Sorafenib (Pan-TK inhibitor)	Acute myeloid leukemia
FLT3-ITD	FLT3	MUT	FLT3::consequence::inframe_variant:572-630			Pan-TK inhibitor;Chemotherapy	Sorafenib;Azacytidine	Responsive	Early trials		PMID:23613521	RDientsmann;SDemajo;RShadrina	01/16	AML		TRUE	ITD (codified as inframe) in Juxtamembrane domain	Sorafenib + Azacytidine (Pan-TK inhibitor + Chemotherapy)	Acute myeloid leukemia
NF1 oncogenic mutation	NF1	MUT	NF1:.			ALK inhibitor	Cediranib	No Responsive	Early trials		NCT00326872	RDientsmann	07/16	PLEN		TRUE	germline	Cediranib (ALK inhibitor)	Plexiform neurofibroma
NF1 deletion	NF1	CNA	NF1:del			ALK inhibitor	Cediranib	No Responsive	Early trials		NCT00326872	RDientsmann	07/16	PLEN		TRUE	germline NCT00326872 (trial results section)	Cediranib (ALK inhibitor)	Plexiform neurofibroma
ALK (G1123S)	ALK	MUT	ALK:G1123S			ALK inhibitor	Ceritinib	Resistant	Case report		PMID:26134233	EArriola	09/15	LUAD		TRUE		Ceritinib (ALK inhibitor)	Lung adenocarcinoma
FOXA1 amplification	FOXA1	CNA	FOXA1:amp			[BCL2 inhibitor]	[]	Responsive	Pre-clinical		PMID:27397505	RDientsmann	07/16	COREAD		TRUE		BCL2 inhibitors	Colorectal adenocarcinoma
FRS2 amplification	FRS2	CNA	FRS2:amp			[FGFR inhibitor]	[]	Responsive	Pre-clinical		PMID:23393200	RDientsmann		LIP		TRUE		FGFR inhibitors	Liposarcoma
G6PD biallelic inactivation	G6PD	BIA	G6PD:.		Approved	BRAF inhibitor	Dabrafenib	Increased Toxicity (Haemolytic Anemia)	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Dabrafenib (BRAF inhibitor)	Any cancer type
G6PD (S218F)	G6PD	MUT	G6PD:S218F		Approved	BRAF inhibitor	Dabrafenib	Increased Toxicity (Haemolytic Anemia)	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Dabrafenib (BRAF inhibitor)	Any cancer type
G6PD (V98M) + G6PD (N156D)	G6PD;G6PD	MUT;MUT	G6PD:V98M;G6PD:N156D		Approved	BRAF inhibitor	Dabrafenib	Increased Toxicity (Haemolytic Anemia)	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Dabrafenib (BRAF inhibitor)	Any cancer type
GATA3 oncogenic mutation	GATA3	MUT	GATA3:.			[Aromatase ihibitor]	[]	Responsive	Pre-clinical		PMID:24758297	RDientsmann		BRCA		TRUE		Aromatase ihibitors	Breast adenocarcinoma
ROS1 (S1986Y,S1986F)	ROS1	MUT	ROS1:S1986Y,S1986F			ALK inhibitor	Ceritinib	Resistant	Case report		PMID:27401242	RDientsmann	07/17	LUAD		TRUE		Ceritinib (ALK inhibitor)	Lung adenocarcinoma
GNA11 (Q209L,Q209P)	GNA11	MUT	GNA11:Q209L,Q209P			[PI3K pathway inhibitor;MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:22733540;PMID:22808163	RDientsmann	01/16	CM		TRUE		PI3K pathway inhibitor + MEK inhibitors	Cutaneous melanoma
GNA11 (Q209L,Q209P)	GNA11	MUT	GNA11:Q209L,Q209P			MEK inhibitor	Selumetinib	Responsive	Early trials		ASCO 2013 (abstr CRA9003)	RDientsmann	01/16	CM		TRUE		Selumetinib (MEK inhibitor)	Cutaneous melanoma
GNA11 (Q209L,Q209P)	GNA11	MUT	GNA11:Q209L,Q209P			HDAC inhibitor	Vorinostat	Responsive	Pre-clinical		NCT01587352	RDientsmann	01/16	CM		TRUE		Vorinostat (HDAC inhibitor)	Cutaneous melanoma
GNAQ (Q209)	GNAQ	MUT	GNAQ:Q209.			[HDAC inhibitor]	[]	Responsive	Pre-clinical		NCT01587352	RDientsmann	01/16	CM		TRUE		HDAC inhibitors	Cutaneous melanoma
GNAQ (Q209)	GNAQ	MUT	GNAQ:Q209.			[PI3K pathway inhibitor;MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:22733540;PMID:22808163	RDientsmann	01/16	CM		TRUE		PI3K pathway inhibitor + MEK inhibitors	Cutaneous melanoma
GNAQ (Q209)	GNAQ	MUT	GNAQ:Q209.			[PKC inhibitor]	[]	Responsive	Pre-clinical		PMID:22653968;PMID:22253748	RDientsmann	01/16	CM		TRUE		PKC inhibitors	Cutaneous melanoma
GNAQ (Q209)	GNAQ	MUT	GNAQ:Q209.			MEK inhibitor	Selumetinib	Responsive	Early trials		ASCO 2013 (abstr CRA9003)	RDientsmann	01/16	CM		TRUE		Selumetinib (MEK inhibitor)	Cutaneous melanoma
GNAS (R201)	GNAS	MUT	GNAS:R201.			[JAK inhibitor]	[]	Responsive	Pre-clinical		PMID:21835143	RDientsmann		CANCER		TRUE		JAK inhibitors	Any cancer type
HDAC2 biallelic inactivation	HDAC2	BIA	HDAC2:.			PARP inhibitor	Olaparib	Responsive	Case report		PMID:26510020	RDientsmann;CRubio-Perez	01/16	PRAD		TRUE		Olaparib (PARP inhibitor)	Prostate adenocarcinoma
HGF overexpression	HGF	EXPR	HGF:over	Indirect	Approved	Pan-kinase inhibitor	Cabozantinib	Responsive	Pre-clinical	Xenograft	PMID:25534569	CRubio-Perez;ARodriguez-Vida		UTC		TRUE		Cabozantinib (Pan-kinase inhibitor)	Urinary tract carcinoma
BRAF (V600E)	BRAF	MUT	BRAF:V600E			EGFR mAb inhibitor	Cetuximab	Resistant	Late trials		PMID:20619739;PMID:21163703;PMID:23325582	RDientsmann		COREAD		TRUE		Cetuximab (EGFR mAb inhibitor)	Colorectal adenocarcinoma
HIF1A overexpression	HIF1A	EXPR	HIF1A:over	Indirect	Approved	Pan-TK inhibitor	Sunitinib	Responsive	Pre-clinical	Cell line	PMID:24086736	ARodriguez-Vida	09/15	R		TRUE		Sunitinib (Pan-TK inhibitor)	Renal
HRAS oncogenic mutation	HRAS	MUT	HRAS:.			[MEK inhibitor +/- MTOR inhibitor]	[]	Responsive	Pre-clinical		PMID:22399013;PMID:22507781	RDientsmann		AML		TRUE		MEK inhibitor +/- MTOR inhibitors	Acute myeloid leukemia
HRAS oncogenic mutation	HRAS	MUT	HRAS:.			[MTOR inhibitor]	[]	Responsive	Pre-clinical		PMID:22345164	RDientsmann	01/16	CESC		TRUE		MTOR inhibitors	Cervix squamous cell
HRAS oncogenic mutation	HRAS	MUT	HRAS:.			[PI3K pathway inhibitor;MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:15950068	RDientsmann		CER		TRUE		PI3K pathway inhibitor + MEK inhibitors	Cervix
HRAS oncogenic mutation	HRAS	MUT	HRAS:.			Farnesyltransferase inhibitor	Tipifarnib	Responsive	Early trials		NCT02383927	RDientsmann	01/16	CANCER		TRUE		Tipifarnib (Farnesyltransferase inhibitor)	Any cancer type
HRAS oncogenic mutation	HRAS	MUT	HRAS:.		Clinical Trials	Farnesyltransferase inhibitor	Tipifarnib	Responsive	Early trials		NCT02383927	RDientsmann	11/15	CANCER		TRUE		Tipifarnib (Farnesyltransferase inhibitor)	Any cancer type
IDH1 oncogenic mutation	IDH1	MUT	IDH1:.			[BCL2 inhibitor]	[]	Responsive	Pre-clinical		PMID:25599133	RDientsmann	01/16	AML		TRUE		BCL2 inhibitors	Acute myeloid leukemia
IDH1 oncogenic mutation	IDH1	MUT	IDH1:.			[IDH1 inhibitor]	[]	Responsive	Early trials		ENA 2014 (abstr 1LBA)	RDientsmann	01/16	AML		TRUE		IDH1 inhibitors	Acute myeloid leukemia
IDH1 (R132)	IDH1	MUT	IDH1:R132.			[PARP inhibitor]	[]	Responsive	Pre-clinical		PMID:28148839	RDientsmann	07/17	CANCER		TRUE		PARP inhibitors	Any cancer type
IDH1 oncogenic mutation	IDH1	MUT	IDH1:.	Direct	Clinical Trials	IDH1 inhibitor	AG-120	Responsive	Early trials		NCT02073994;PMID:23558169	MMartínez;RDientsmann;CRubio-Perez	09/15	G		TRUE		AG-120 (IDH1 inhibitor)	Glioma
IDH1 oncogenic mutation	IDH1	MUT	IDH1:.	Indirect	Clinical Trials	BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Early trials		NCT02428855	CRubio-Perez		CH		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Cholangiocarcinoma
IDH1 (R132)	IDH1	MUT	IDH1:R132.			BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Pre-clinical		PMID:27231123	RDientsmann	07/16	BT		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Billiary tract
IDH1 oncogenic mutation	IDH1	MUT	IDH1:.			BCL2 inhibitor	Venetoclax	Responsive	Early trials		PMID:27520294	DTamborero;CRubio-Perez	10/16	AML		TRUE	ITD (codified as inframe) in Juxtamembrane domain	Venetoclax (BCL2 inhibitor)	Acute myeloid leukemia
IDH2 (R140K,R172K)	IDH2	MUT	IDH2:R140K,R172K	Direct	Clinical Trials	IDH2 inhibitor	AG-221	Responsive	Early trials		AACR 2014 (abstr CT103)	RDientsmann		HEMATO		TRUE		AG-221 (IDH2 inhibitor)	Hematologic malignancies
IDH2 oncogenic mutation	IDH2	MUT	IDH2:.	Indirect	Clinical Trials	BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Early trials		NCT02428855	CRubio-Perez		CH		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Cholangiocarcinoma
IDH2 (R172)	IDH2	MUT	IDH2:R172.			BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Pre-clinical		PMID:27231123	RDientsmann	07/16	BT		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Billiary tract
IDH2 oncogenic mutation	IDH2	MUT	IDH2:.			BCL2 inhibitor	Venetoclax	Responsive	Early trials		PMID:27520294	DTamborero;CRubio-Perez	10/16	AML		TRUE	ITD (codified as inframe) in Juxtamembrane domain	Venetoclax (BCL2 inhibitor)	Acute myeloid leukemia
EGFR (S464L,G465R,I491M)	EGFR	MUT	EGFR:S464L,G465R,I491M		Approved	EGFR mAb inhibitor	Cetuximab	Resistant	Pre-clinical		PMID:25623215	RDientsmann		COREAD		TRUE		Cetuximab (EGFR mAb inhibitor)	Colorectal adenocarcinoma
EGFR (S492R,G465R,R451C,K467T)	EGFR	MUT	EGFR:S492R,G465R,R451C,K467T			EGFR mAb inhibitor	Cetuximab	Resistant	Case report		PMID:22270724;PMID:26059438;PMID:25623215;PMID:22270724;PMID:26888827	RDientsmann	07/16	COREAD		TRUE		Cetuximab (EGFR mAb inhibitor)	Colorectal adenocarcinoma
IL7R inframe insertion (237-255),inframe deletion (237-255) + SH2B3 deletion	IL7R;SH2B3	MUT;CNA	IL7R::consequence::inframe_insertion:237-255,::inframe_deletion:237-255;SH2B3:del			[MTOR inhibitor]	[]	Responsive	Pre-clinical		PMID:22955920	RDientsmann	01/16	ALL		TRUE		MTOR inhibitors	Acute lymphoblastic leukemia
IL7R (S185C) + SH2B3 deletion	IL7R;SH2B3	MUT;CNA	IL7R:S185C;SH2B3:del			[MTOR inhibitor]	[]	Responsive	Pre-clinical		PMID:22955920	RDientsmann	01/16	ALL		TRUE		MTOR inhibitors	Acute lymphoblastic leukemia
IL7R inframe insertion (237-255),inframe deletion (237-255) + SH2B3 deletion	IL7R;SH2B3	MUT;CNA	IL7R::consequence::inframe_insertion:237-255,::inframe_deletion:237-255;SH2B3:del			JAK inhibitor	Ruxolitinib	Responsive	Pre-clinical		PMID:22897847;PMID:22955920	RDientsmann	01/16	ALL		TRUE		Ruxolitinib (JAK inhibitor)	Acute lymphoblastic leukemia
IL7R (S185C) + SH2B3 deletion	IL7R;SH2B3	MUT;CNA	IL7R:S185C;SH2B3:del			JAK inhibitor	Ruxolitinib	Responsive	Pre-clinical		PMID:22897847;PMID:22955920	RDientsmann	01/16	ALL		TRUE		Ruxolitinib (JAK inhibitor)	Acute lymphoblastic leukemia
INPP4B oncogenic mutation	INPP4B	MUT	INPP4B:.			[PI3K pathway inhibitor]	[]	Responsive	Pre-clinical		PMID:23551093	RDientsmann		BRCA		TRUE		PI3K pathway inhibitors	Breast adenocarcinoma
INPP4B deletion	INPP4B	CNA	INPP4B:del			[PI3K pathway inhibitor]	[]	Responsive	Pre-clinical		PMID:23551093	RDientsmann		BRCA		TRUE		PI3K pathway inhibitors	Breast adenocarcinoma
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[EZH2 inhibitor]	[]	Resistant	Pre-clinical		PMID:26552009	RDientsmann	01/16	CANCER		TRUE		EZH2 inhibitors	Any cancer type
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[PI3K pathway inhibitor]	[]	Resistant	Pre-clinical		PMID:22662154	RDientsmann		ED		TRUE		PI3K pathway inhibitors	Endometrium
JAK1 (S646F;R683)	JAK1	MUT	JAK1:S646F,R683.			JAK inhibitor	Ruxolitinib	Responsive	Pre-clinical		PMID:22955920;PMID:18805579	RDientsmann	01/16	ALL		TRUE		Ruxolitinib (JAK inhibitor)	Acute lymphoblastic leukemia
JAK2 (V617F)	JAK2	MUT	JAK2:V617F			[JAK inhibitor (alone or in combination)]	[]	Responsive	Pre-clinical		PMID:22829971	RDientsmann	01/16	AML		TRUE		JAK inhibitor (alone or in combination)s	Acute myeloid leukemia
JAK2 amplification	JAK2	CNA	JAK2:amp			[JAK inhibitor]	[]	Responsive	Pre-clinical		PMID:27075627	RDientsmann	06/16	BRCA		TRUE		JAK inhibitors	Breast adenocarcinoma
NRAS (12,13,59,61,117,146)	NRAS	MUT	NRAS:.12.,.13.,.59.,.61.,.117.,.146.		Approved	EGFR mAb inhibitor	Panitumumab	Resistant	FDA guidelines		FDA guidelines	RDientsmann		COREAD		TRUE		Panitumumab (EGFR mAb inhibitor)	Colorectal adenocarcinoma
JAK2-BRAF fusion	JAK2	FUS	JAK2__BRAF			JAK inhibitor	Ruxolitinib	Responsive	Pre-clinical		PMID:22875628;PMID:22899477	RDientsmann	01/16	ALL		TRUE		Ruxolitinib (JAK inhibitor)	Acute lymphoblastic leukemia
JAK2 (V617F)	JAK2	MUT	JAK2:V617F			JAK inhibitor	Ruxolitinib	Responsive	Early trials		PMID:22422826	RDientsmann	01/16	AML		TRUE		Ruxolitinib (JAK inhibitor)	Acute myeloid leukemia
JAK2 (V617F)	JAK2	MUT	JAK2:V617F		Approved	JAK inhibitor	Ruxolitinib	Responsive	FDA guidelines		FDA	RDientsmann		MY		TRUE		Ruxolitinib (JAK inhibitor)	Myelofibrosis
JAK3 (A572V,A573V)	JAK3	MUT	JAK3:A572V,A573V			[JAK inhibitor]	[]	Responsive	Pre-clinical		PMID:22705984	RDientsmann		LY		TRUE		JAK inhibitors	Lymphoma
JAK3 (R657Q,I87T,Q501H)	JAK3	MUT	JAK3:R657Q,I87T,Q501H			[JAK inhibitor]	[]	Responsive	Pre-clinical		PMID:18397343	RDientsmann		MKB		TRUE		JAK inhibitors	Megakaryoblastic leukemia
KCNJ5 (L168R)	KCNJ5	MUT	KCNJ5:L168R	Indirect	Approved	Na-Ca chanel blocker	Amiloride	Responsive	Pre-clinical	Cell line	PMID:24506072	ECampo		AA		TRUE		Amiloride (Na-Ca chanel blocker)	Adrenal adenoma
KCNJ5 (L168R)	KCNJ5	MUT	KCNJ5:L168R	Indirect	Approved	Na-Ca chanel blocker	Verapamil	Responsive	Pre-clinical	Cell line	PMID:24506072	ECampo		AA		TRUE		Verapamil (Na-Ca chanel blocker)	Adrenal adenoma
KDR (A1065T)	KDR	MUT	KDR:A1065T			[VEGFR inhibitor]	[]	Responsive	Pre-clinical		PMID:24569783	RDientsmann		CANCER		TRUE		VEGFR inhibitors	Any cancer type
KIT mutation in exon 11	KIT	MUT	KIT:550-592			[HSP90 inhibitor]	[]	Responsive	Early trials		PMID:22898035	RDientsmann	01/16	GIST		TRUE		HSP90 inhibitors	Gastrointestinal stromal
KIT mutation in exon 9 or 17	KIT	MUT	KIT:788-828,449-514			[HSP90 inhibitor]	[]	Responsive	Pre-clinical		PMID:21737509	RDientsmann	01/16	GIST		TRUE		HSP90 inhibitors	Gastrointestinal stromal
KIT wildtype	KIT	MUT	KIT::wildtype:.			BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Pre-clinical		PMID:16397263	RDientsmann	01/16	GIST		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Gastrointestinal stromal
KIT mutation in exon 9,11,13,14 or 17	KIT	MUT	KIT:550-592,627-664			BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Case report		PMID:19671763	RDientsmann	01/16	CM		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Cutaneous melanoma
KIT (D816V)	KIT	MUT	KIT:D816V			BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Early trials		PMID:18559612	RDientsmann	01/16	SM		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Systemic mastocytosis
KIT (D816V)	KIT	MUT	KIT:D816V			BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Case report		PMID:18986703	RDientsmann	01/16	AML		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Acute myeloid leukemia
KIT (D816Y,D816F,D816V)	KIT	MUT	KIT:D816Y,D816F,D816V			BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Pre-clinical		PMID:16397263	CRubio-Perez;RDientsmann		CANCER		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Any cancer type
KIT (N822K)	KIT	MUT	KIT:N822K			BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Pre-clinical		PMID:23149070	RDientsmann		AML		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Acute myeloid leukemia
KIT inframe deletion (416-422),inframe insertion (416-422)	KIT	MUT	KIT::consequence::inframe_deletion:416-422,::inframe_insertion:416-422			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Responsive	Pre-clinical		PMID:15618474	RDientsmann		AML		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Acute myeloid leukemia
KIT inframe deletion (V560)	KIT	MUT	KIT::consequence::inframe_deletion:V560.			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Responsive	Case report		PMID:15201427	RDientsmann	01/16	THYM		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Thymic
PIK3CA oncogenic mutation	PIK3CA	MUT	PIK3CA:.			EGFR mAb inhibitor	Cetuximab	Resistant	Late trials		PMID:19223544;PMID:20619739	RDientsmann	01/16	COREAD		TRUE		Cetuximab (EGFR mAb inhibitor)	Colorectal adenocarcinoma
KIT mutation in exon 9,11,13,14 or 17	KIT	MUT	KIT:449-514,550-592,627-664,664-714,788-828		Approved	BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Responsive	FDA guidelines		FDA	CRubio-Perez;DTamborero;RDientsmann		GIST		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Gastrointestinal stromal
KIT mutation in exon 9,11,13,14 or 17	KIT	MUT	KIT:550-592,627-664			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Responsive	Late trials		PMID:18421059;PMID:21642685;PMID:21690468;PMID:22261812	RDientsmann	01/16	CM		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Cutaneous melanoma
KIT mutation in exon 9,11,13,14 or 17	KIT	MUT	KIT:550-592,627-664		Approved	BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Responsive	NCCN guidelines		NCCN	RDientsmann		CM		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Cutaneous melanoma
PTEN biallelic inactivation	PTEN	BIA	PTEN:.		Approved	EGFR mAb inhibitor	Cetuximab	Resistant	Case report		Caris molecular intelligence	DTamborero		COREAD		TRUE		Cetuximab (EGFR mAb inhibitor)	Colorectal adenocarcinoma
ERCC1 overexpression	ERCC1	EXPR	ERCC1:over		Approved	Chemotherapy	Cisplatin	Resistant	Pre-clinical		PMID:20846399;PMID:21177407	ARodriguez-Vida	09/15	BLCA	BLCA	TRUE		Cisplatin (Chemotherapy)	Bladder
MDM2 amplification	MDM2	CNA	MDM2:amp			Chemotherapy	Cisplatin	Resistant	Early trials		PMID:27646943	RDientsmann	12/16	MGCT		TRUE		Cisplatin (Chemotherapy)	Male germ cell tumor
TP53 oncogenic mutation	TP53	MUT	TP53:.			Chemotherapy	Cisplatin	Resistant	Early trials		PMID:27646943	RDientsmann	12/16	FGCT;MGCT		TRUE		Cisplatin (Chemotherapy)	Female germ cell tumor;Male germ cell tumor
ALK inframe insertion (1151T)	ALK	MUT	ALK::consequence::inframe_insertion:.1151T.			ALK inhibitor	Crizotinib	Resistant	Case report		PMID:22277784	RDientsmann		LUAD		TRUE		Crizotinib (ALK inhibitor)	Lung adenocarcinoma
KIT (D820Y)	KIT	MUT	KIT:D820Y			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Responsive	Case report		PMID:23775962	RDientsmann	01/16	CM		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Cutaneous melanoma
ALK oncogenic mutation	ALK	MUT	ALK:.		Approved	ALK inhibitor	Crizotinib	Resistant	Clinical trials		PMID:22235099	EArriola	09/15	NSCLC		TRUE		Crizotinib (ALK inhibitor)	Non-small cell lung
ALK amplification	ALK	CNA	ALK:amp		Approved	ALK inhibitor	Crizotinib	Resistant	Clinical trials		PMID:22235099	EArriola	09/15	NSCLC		TRUE		Crizotinib (ALK inhibitor)	Non-small cell lung
KIT (Y553N)	KIT	MUT	KIT:Y553N			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Responsive	Case report		PMID:21969494	RDientsmann	01/16	THYM		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Thymic
KIT mutation in exon 9,11,13,14 or 17	KIT	MUT	KIT:550-592,627-664			BCR-ABL inhibitor 2nd gen	Nilotinib	Responsive	Early trials		PMID:22068222;PMID:25695690	RDientsmann	01/16	CM		TRUE		Nilotinib (BCR-ABL inhibitor 2nd gen)	Cutaneous melanoma
KIT mutation in exon 17	KIT	MUT	KIT:788-828			BCR-ABL inhibitor 2nd gen	Nilotinib	Responsive	Early trials		PMID:22119758;PMID:21456006	RDientsmann	01/16	GIST		TRUE		Nilotinib (BCR-ABL inhibitor 2nd gen)	Gastrointestinal stromal
KIT (D820Y)	KIT	MUT	KIT:D820Y			BCR-ABL inhibitor 2nd gen	Nilotinib	Responsive	Case report		PMID:25695690	RDientsmann	01/16	CM		TRUE		Nilotinib (BCR-ABL inhibitor 2nd gen)	Cutaneous melanoma
KIT (788-828,829-860,550-592)	KIT	MUT	KIT:788-828,829-860,550-592			BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor	Ponatinib	Responsive	Early trials		ASCO 2015 (abstr 10517);PMID:25239608;ASCO 2015 (abstr 10535)	RDientsmann	01/16	GIST		TRUE		Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)	Gastrointestinal stromal
KIT (A829P,V654A,T670I)	KIT	MUT	KIT:A829P,V654A,T670I			BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor	Ponatinib	Responsive	Pre-clinical		PMID:25239608	RDientsmann		GIST		TRUE		Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)	Gastrointestinal stromal
KIT mutation in exon 9,11,13,14 or 17	KIT	MUT	KIT:449-514,550-592,627-664,664-714,788-828		Approved	Pan-kinase inhibitor	Regorafenib	Responsive	FDA guidelines		FDA	RDientsmann		GIST		TRUE	Exon 9,11,14,17	Regorafenib (Pan-kinase inhibitor)	Gastrointestinal stromal
KIT inframe deletion (577-579)	KIT	MUT	KIT::consequence::inframe_deletion:577-579			Pan-TK inhibitor	Sorafenib	Responsive	Case report		PMID:20970876	RDientsmann	01/16	THYM		TRUE		Sorafenib (Pan-TK inhibitor)	Thymic
KIT wildtype	KIT	MUT	KIT::wildtype:.			Pan-TK inhibitor	Sorafenib	Responsive	Early trials		ASCO 2011 (abstr 10009)	RDientsmann	01/16	GIST		TRUE		Sorafenib (Pan-TK inhibitor)	Gastrointestinal stromal
KIT mutation in exon 9 or 11	KIT	MUT	KIT:550-592,449-514			Pan-TK inhibitor	Sorafenib	Responsive	Early trials		PMID:22270258	RDientsmann	01/16	GIST		TRUE		Sorafenib (Pan-TK inhibitor)	Gastrointestinal stromal
KIT (550-592,627-664,788-828,829-860)	KIT	MUT	KIT:550-592,627-664,788-828,829-860			Pan-TK inhibitor	Sorafenib	Responsive	Case report		PMID:18936790;PMID:20372153	RDientsmann	01/16	CM		TRUE		Sorafenib (Pan-TK inhibitor)	Cutaneous melanoma
KIT mutation in exon 17	KIT	MUT	KIT:788-828			Pan-TK inhibitor	Sorafenib	Responsive	Pre-clinical		PMID:23840364	RDientsmann	01/16	GIST		TRUE		Sorafenib (Pan-TK inhibitor)	Gastrointestinal stromal
KIT (D820E)	KIT	MUT	KIT:D820E			Pan-TK inhibitor	Sorafenib	Responsive	Case report		PMID:19461405	RDientsmann	01/16	THYM		TRUE		Sorafenib (Pan-TK inhibitor)	Thymic
KIT wildtype	KIT	MUT	KIT::wildtype:.			Pan-TK inhibitor	Sunitinib	Responsive	Late trials		PMID:18955458	RDientsmann	01/16	GIST		TRUE		Sunitinib (Pan-TK inhibitor)	Gastrointestinal stromal
KIT mutation in exon 9,11,13,14 or 17	KIT	MUT	KIT:449-514,550-592,627-664,664-714,788-828		Approved	Pan-TK inhibitor	Sunitinib	Responsive	FDA guidelines		FDA	RDientsmann		GIST		TRUE		Sunitinib (Pan-TK inhibitor)	Gastrointestinal stromal
ALK amplification	ALK	CNA	ALK:amp			ALK inhibitor	Crizotinib	Resistant	Case report		PMID:22277784	RDientsmann		LUAD		TRUE		Crizotinib (ALK inhibitor)	Lung adenocarcinoma
KIT mutation in exon 9,11,13,14 or 17	KIT	MUT	KIT:550-592,627-664			Pan-TK inhibitor	Sunitinib	Responsive	Late trials		PMID:18421059;PMID:21642685;PMID:21690468;PMID:22261812	RDientsmann	01/16	CM		TRUE		Sunitinib (Pan-TK inhibitor)	Cutaneous melanoma
ALK (C1156Y,L1196M)	ALK	MUT	ALK:C1156Y,L1196M		Approved	ALK inhibitor	Crizotinib	Resistant	Case report		PMID:20979473	EArriola	09/15	NSCLC		TRUE		Crizotinib (ALK inhibitor)	Non-small cell lung
ALK (F1174L)	ALK	MUT	ALK:F1174L			ALK inhibitor	Crizotinib	Resistant	Pre-clinical		PMID:22072639	RDientsmann		G		TRUE		Crizotinib (ALK inhibitor)	Glioma
KIT (H697Y)	KIT	MUT	KIT:H697Y			Pan-TK inhibitor	Sunitinib	Responsive	Pre-clinical		PMID:19861435	RDientsmann	01/16	THYM		TRUE		Sunitinib (Pan-TK inhibitor)	Thymic
KIT (H697Y)	KIT	MUT	KIT:H697Y			Pan-TK inhibitor	Sunitinib	Responsive	Pre-clinical		PMID:19861435	RDientsmann		THYM		TRUE		Sunitinib (Pan-TK inhibitor)	Thymic
KIT (Y553N)	KIT	MUT	KIT:Y553N			Pan-TK inhibitor	Sunitinib	Responsive	Case report		PMID:23375402	RDientsmann	01/16	THYM		TRUE		Sunitinib (Pan-TK inhibitor)	Thymic
KRAS (12,13,59,61,117,146)	KRAS	MUT	KRAS:.12.,.13.,.59.,.61.,.117.,.146.		Approved	EGFR mAb inhibitor	Panitumumab	Resistant	FDA guidelines		FDA guidelines	CRubio-Perez;RDientsmann		COREAD		TRUE		Panitumumab (EGFR mAb inhibitor)	Colorectal adenocarcinoma
KRAS (G12)	KRAS	MUT	KRAS:G12.			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Resistant	Case report		PMID:24687822	RDientsmann		GIST		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Gastrointestinal stromal
KRAS oncogenic mutation	KRAS	MUT	KRAS:.		Approved	EGFR mAb inhibitor	Panitumumab	Resistant	NCCN guidelines		NCCN guidelines	RDientsmann		COREAD		TRUE		Panitumumab (EGFR mAb inhibitor)	Colorectal adenocarcinoma
KRAS oncogenic mutation	KRAS	MUT	KRAS:.		Approved	EGFR mAb inhibitor	Cetuximab	Resistant	NCCN guidelines		NCCN guidelines	RDientsmann		COREAD		TRUE		Cetuximab (EGFR mAb inhibitor)	Colorectal adenocarcinoma
ALK (L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171T)	ALK	MUT	ALK:L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171T			ALK inhibitor	Crizotinib	Resistant	Case report		PMID:22277784;PMID:25228534	RDientsmann		LUAD		TRUE		Crizotinib (ALK inhibitor)	Lung adenocarcinoma
MET (Y1230C,Y1235D)	MET	MUT	MET:Y1230C,Y1235D			ALK inhibitor	Crizotinib	Resistant	Pre-clinical		PMID:17483355	RDientsmann		CANCER		TRUE		Crizotinib (ALK inhibitor)	Any cancer type
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[EGFR inhibitor]	[]	Resistant	NCCN guidelines		NCCN guidelines	RDientsmann		L		TRUE		EGFR inhibitors	Lung
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			ERBB2 mAb inhibitor;ERBB2 inhibitor	Trastuzumab;Lapatinib	Resistant	Late trials		ASCO 2015 (abstr 3508);NCT01104571;EBCC10	RDientsmann	01/16	COREAD		TRUE		Trastuzumab + Lapatinib (ERBB2 mAb inhibitor + ERBB2 inhibitor)	Colorectal adenocarcinoma
ROS1 (G2032R)	ROS1	MUT	ROS1:G2032R		Approved	ALK inhibitor	Crizotinib	Resistant	Case report		PMID:23724914;PMID:25688157	RDientsmann		LUAD		TRUE		Crizotinib (ALK inhibitor)	Lung adenocarcinoma
ROS1 (S1986Y,S1986F)	ROS1	MUT	ROS1:S1986Y,S1986F			ALK inhibitor	Crizotinib	Resistant	Case report		PMID:27401242	RDientsmann	07/17	LUAD		TRUE		Crizotinib (ALK inhibitor)	Lung adenocarcinoma
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[BET inhibitor]	[]	Responsive	Pre-clinical		PMID:23129625;PMID:24045185	RDientsmann	04/16	L		TRUE		BET inhibitors	Lung
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[CDK4 inhibitor]	[]	Responsive	Pre-clinical		PMID:20609353	RDientsmann	04/16	L		TRUE		CDK4 inhibitors	Lung
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[CDK4/6 inhibitor;MEK inhibitor]	[]	Responsive	Early trials		AACR 2017 (CT046)	RDientsmann	07/17	L		TRUE		CDK4/6 inhibitor + MEK inhibitors	Lung
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[CDK4/6 inhibitor;MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:27167191	RDientsmann	07/17	CESC		TRUE		CDK4/6 inhibitor + MEK inhibitors	Cervix squamous cell
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[EGFR mAb inhibitor;MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:24553387	RDientsmann	01/16	COREAD		TRUE		EGFR mAb inhibitor + MEK inhibitors	Colorectal adenocarcinoma
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[ERK inhibitor]	[]	Responsive	Pre-clinical		PMID:23614898	RDientsmann	01/16	COREAD		TRUE		ERK inhibitors	Colorectal adenocarcinoma
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[FAK inhibitor]	[]	Responsive	Pre-clinical		PMID:23358651	RDientsmann	04/16	L		TRUE		FAK inhibitors	Lung
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[FAS inhibitor]	[]	Responsive	Case report		AACR 2016;abstr	RDientsmann	04/16	L		TRUE		FAS inhibitors	Lung
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[FAS inhibitor]	[]	Responsive	Case report		AACR 2016, abstr LB214	RDientsmann	06/16	L		TRUE		FAS inhibitors	Lung
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[HSP90 inhibitor (in combination)]	[]	Responsive	Pre-clinical		PMID:23012248;PMID:21907929	RDientsmann	04/16	L		TRUE		HSP90 inhibitor (in combination)s	Lung
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[JAK/TBK1/IKKε inhibitor]	[]	Responsive	Pre-clinical		PMID:24444711	RDientsmann	04/16	L		TRUE		JAK/TBK1/IKKε inhibitors	Lung
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[MEK inhibitor;BCL-XL inhibitor]	[]	Responsive	Pre-clinical		PMID:23245996	RDientsmann	01/16	COREAD		TRUE		MEK inhibitor + BCL-XL inhibitors	Colorectal adenocarcinoma
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[MEK inhibitor;IGF1R inhibitor]	[]	Responsive	Pre-clinical		PMID:24045180	RDientsmann	01/16	COREAD		TRUE		MEK inhibitor + IGF1R inhibitors	Colorectal adenocarcinoma
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[MEK inhibitor;PI3K pathway inhibitor]	[]	Responsive	Pre-clinical		PMID:22392911	RDientsmann	01/16	COREAD		TRUE		MEK inhibitor + PI3K pathway inhibitors	Colorectal adenocarcinoma
ABL1 (V299L,T315A,F317L,F317V,F317I,F317C)	ABL1	MUT	ABL1:V299L,T315A,F317L,F317V,F317I,F317C		Approved	BCR-ABL inhibitor 2nd gen	Dasatinib	Resistant	European LeukemiaNet guidelines		PMID:21562040	CRubio-Perez	12/15	CML;AML		TRUE	Has to be rechecked	Dasatinib (BCR-ABL inhibitor 2nd gen)	Chronic myeloid leukemia;Acute myeloid leukemia
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[MEK inhibitor]	[]	Responsive	Early trials		PMID:23200175;PMID:24947927;PMID:25667274;PMID:25722381;PMID:23391555	RDientsmann	04/16	L;BT		TRUE		MEK inhibitors	Lung;Billiary tract
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:22507781;PMID:22169769;PMID:19018267	RDientsmann		AML;CER;OV		TRUE		MEK inhibitors	Acute myeloid leukemia;Cervix;Ovary
NF1 oncogenic mutation	NF1	MUT	NF1:.			BCR-ABL inhibitor 2nd gen	Dasatinib	Resistant	Pre-clinical		PMID:24296828	RDientsmann	07/16	L		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Lung
KRAS (G12)	KRAS	MUT	KRAS:G12.			[MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:18701506	RDientsmann	01/16	ALL		TRUE		MEK inhibitors	Acute lymphoblastic leukemia
NF1 deletion	NF1	CNA	NF1:del			BCR-ABL inhibitor 2nd gen	Dasatinib	Resistant	Pre-clinical		PMID:24296828	RDientsmann	07/16	L		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Lung
FGFR2 (V565I,M536I,M538I,I548V,N550,E566G,L618M,K660E)	FGFR2	MUT	FGFR2:V565I,M536I,M538I,I548V,N550.,E566G,L618M,K660E			FGFR inhibitor	Dovitinib	Resistant	Pre-clinical		PMID:23908597	RDientsmann		ED		TRUE		Dovitinib (FGFR inhibitor)	Endometrium
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[MTOR inhibitor;BH3 mimetics]	[]	Responsive	Pre-clinical		PMID:24163374	RDientsmann	01/16	COREAD		TRUE		MTOR inhibitor + BH3 mimeticss	Colorectal adenocarcinoma
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[pan-RAF inhibitor]	[]	Responsive	Early trials		AACR 2017 (abstr CT002)	RDientsmann	07/17	L		TRUE		pan-RAF inhibitors	Lung
AR (F877L)	AR	MUT	AR:F877L			AR inhibitor	Enzalutamide	Resistant	Case report		PMID:23779130	RDientsmann;ARodriguez-Vida	09/15	PRAD	PRAD	TRUE	REMAP:F876L to F877L the previous mutation was not found in . transcript to our knowledge.	Enzalutamide (AR inhibitor)	Prostate adenocarcinoma
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[pan-RAF inhibitor]	[]	Responsive	Case report		AACR 2016 (abstr CT005);AACR 2017 (abstr CT002)	RDientsmann	07/17	ED		TRUE		pan-RAF inhibitors	Endometrium
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[PI3K pathway inhibitor;MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:21984976;PMID:22662154	RDientsmann	07/17	ED		TRUE		PI3K pathway inhibitor + MEK inhibitors	Endometrium
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			[PI3K pathway inhibitor;MEK inhibitor]	[]	Responsive	Early trials		PMID:25516890	RDientsmann	04/16	L		TRUE		PI3K pathway inhibitor + MEK inhibitors	Lung
EGFR amplification	EGFR	CNA	EGFR:amp		Approved	EGFR inhibitor 1st gen	Erlotinib	No Responsive	Early trials		ASCO2015(abstre19028)	RDientsmann		L		TRUE		Erlotinib (EGFR inhibitor 1st gen)	Lung
EGFR (S720)	EGFR	MUT	EGFR:S720.			EGFR inhibitor 1st gen	Erlotinib	No Responsive	Case report		PMID:26773740	RDientsmann	12/16	L		TRUE		Erlotinib (EGFR inhibitor 1st gen)	Lung
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			CDK4/6 inhibitor	Abemaciclib	Responsive	Early trials		PMID:27217383	RDientsmann;DTamborero;CRubio-Perez	07/17	L		TRUE		Abemaciclib (CDK4/6 inhibitor)	Lung
IGF1R amplification	IGF1R	CNA	IGF1R:amp			EGFR inhibitor 1st gen	Erlotinib	Resistant	Pre-clinical		PMID:24458568	RDientsmann		LUAD		TRUE		Erlotinib (EGFR inhibitor 1st gen)	Lung adenocarcinoma
NF1 oncogenic mutation	NF1	MUT	NF1:.			EGFR inhibitor 1st gen	Erlotinib	Resistant	Pre-clinical		PMID:24535670	RDientsmann	07/16	L		TRUE		Erlotinib (EGFR inhibitor 1st gen)	Lung
NF1 deletion	NF1	CNA	NF1:del			EGFR inhibitor 1st gen	Erlotinib	Resistant	Pre-clinical		PMID:24535670	RDientsmann	07/16	L		TRUE		Erlotinib (EGFR inhibitor 1st gen)	Lung
NF2 oncogenic mutation	NF2	MUT	NF2:.			EGFR inhibitor 1st gen	Erlotinib	No Responsive	Early trials		PMID:20736812	RDientsmann	07/16	SCHW		TRUE	germline	Erlotinib (EGFR inhibitor 1st gen)	Schwannoma
NF2 deletion	NF2	CNA	NF2:del			EGFR inhibitor 1st gen	Erlotinib	No Responsive	Early trials		PMID:20736812	RDientsmann	07/16	SCHW		TRUE	germline	Erlotinib (EGFR inhibitor 1st gen)	Schwannoma
NF2 oncogenic mutation + EGFR oncogenic mutation	NF2;EGFR	MUT;MUT	NF2:.;EGFR:.			EGFR inhibitor 1st gen;EGFR mAb inhibitor	Erlotinib;Cetuximab	Resistant	Case report		PMID:24813888	RDientsmann	07/16	L		TRUE	In Egfr Mutant Tumors	Erlotinib + Cetuximab (EGFR inhibitor 1st gen + EGFR mAb inhibitor)	Lung
NF2 deletion + EGFR oncogenic mutation	NF2;EGFR	CNA;MUT	NF2:del;EGFR:.			EGFR inhibitor 1st gen;EGFR mAb inhibitor	Erlotinib;Cetuximab	Resistant	Case report		PMID:24813888	RDientsmann	07/16	L		TRUE	In Egfr Mutant Tumors	Erlotinib + Cetuximab (EGFR inhibitor 1st gen + EGFR mAb inhibitor)	Lung
MTOR (F2108L)	MTOR	MUT	MTOR:F2108L			MTOR inhibitor	Everolimus	Resistant	Case report		PMID:25295501	DTamborero;RDientsmann		THCA		TRUE	Metastatic THCA with superresponse putatively assoiated with TSC2 nonsense mutation developing resistance associated with MTOR mutation after 18months	Everolimus (MTOR inhibitor)	Thyroid carcinoma
MAP2K1 (F129L,L215P,I103N,P124)	MAP2K1	MUT	MAP2K1:F129L,L215P,I103N,P124.			[ERK inhibitor]	[]	Responsive	Pre-clinical		PMID:23614898	RDientsmann	01/16	CANCER		TRUE		ERK inhibitors	Any cancer type
MAP2K1 (P124)	MAP2K1	MUT	MAP2K1:P124.			[ERK inhibitor]	[]	Responsive	Pre-clinical		PMID:25370473	RDientsmann	01/16	CM		TRUE		ERK inhibitors	Cutaneous melanoma
NF1 oncogenic mutation	NF1	MUT	NF1:.			MTOR inhibitor	Everolimus	No Responsive	Early trials		NCT01365468	RDientsmann	07/16	MPN		TRUE	germline	Everolimus (MTOR inhibitor)	Malignant peripheral nerve sheat tumor
NF1 deletion	NF1	CNA	NF1:del			MTOR inhibitor	Everolimus	No Responsive	Early trials		NCT01365468	RDientsmann	07/16	MPN		TRUE	germline	Everolimus (MTOR inhibitor)	Malignant peripheral nerve sheat tumor
NF1 oncogenic mutation	NF1	MUT	NF1:.			MTOR inhibitor;VEGFR mAb inhibitor	Everolimus;Bevacizumab	No Responsive	Early trials		ASCO 2016 (abstr 11053)	RDientsmann	07/16	MPN		TRUE	germline	Everolimus + Bevacizumab (MTOR inhibitor + VEGFR mAb inhibitor)	Malignant peripheral nerve sheat tumor
MAP2K1 (C121S)	MAP2K1	MUT	MAP2K1:C121S			[novel MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:24448821	RDientsmann	01/16	CM		TRUE		novel MEK inhibitors	Cutaneous melanoma
MAP2K1 (K57T)	MAP2K1	MUT	MAP2K1:K57T			EGFR mAb inhibitor;MEK inhibitor	Panitumumab;Trametinib	Responsive	Case report		PMID:26644315	RDientsmann	04/16	COREAD		TRUE		Panitumumab + Trametinib (EGFR mAb inhibitor + MEK inhibitor)	Colorectal adenocarcinoma
MAP2K1 inframe deletion (56-60)	MAP2K1	MUT	MAP2K1::consequence::inframe_deletion:56-60			MEK inhibitor	Selumetinib	Responsive	Case report		PMID:26324360	RDientsmann	01/16	OV		TRUE		Selumetinib (MEK inhibitor)	Ovary
MAP2K1 (Q56P)	MAP2K1	MUT	MAP2K1:Q56P			MEK inhibitor	Trametinib	Responsive	Pre-clinical		PMID:26582713	RDientsmann	04/16	CANCER		TRUE		Trametinib (MEK inhibitor)	Any cancer type
NF1 deletion	NF1	CNA	NF1:del			MTOR inhibitor;VEGFR mAb inhibitor	Everolimus;Bevacizumab	No Responsive	Early trials		ASCO 2016 (abstr 11053)	RDientsmann	07/16	MPN		TRUE	germline	Everolimus + Bevacizumab (MTOR inhibitor + VEGFR mAb inhibitor)	Malignant peripheral nerve sheat tumor
MAP2K1 (P124S,I111S) + BRAF oncogenic mutation	MAP2K1;BRAF	MUT;MUT	MAP2K1:P124S,I111S;BRAF:.			[BRAF inhibitor]	[]	Responsive	Case report		PMID:22588879	RDientsmann	01/16	CM		TRUE		BRAF inhibitors	Cutaneous melanoma
NF1 oncogenic mutation	NF1	MUT	NF1:.			MTOR inhibitor;EGFR inhibitor 1st gen	Everolimus;Erlotinib	No Responsive	Case report		PMID:24634382	RDientsmann	07/16	G		TRUE		Everolimus + Erlotinib (MTOR inhibitor + EGFR inhibitor 1st gen)	Glioma
NF1 deletion	NF1	CNA	NF1:del			MTOR inhibitor;EGFR inhibitor 1st gen	Everolimus;Erlotinib	No Responsive	Case report		PMID:24634382	RDientsmann	07/16	G		TRUE		Everolimus + Erlotinib (MTOR inhibitor + EGFR inhibitor 1st gen)	Glioma
ESR1 oncogenic mutation	ESR1	MUT	ESR1:.			Hormonal therapy	Exemestane	Resistant	Late trials		PMID:27269946	RDientsmann	06/16	BRCA		TRUE		Exemestane (Hormonal therapy)	Breast adenocarcinoma
AR (T878A)	AR	MUT	AR:T878A			AR inhibitor	Flutamide	Resistant	Case report		PMID:2260966	RDientsmann;ARodriguez-Vida	09/15	PRAD	PRAD	TRUE	REMAP:T877A to T878A the previous mutation was not found in . transcript to our knowledge.	Flutamide (AR inhibitor)	Prostate adenocarcinoma
ESR1 (Y537S)	ESR1	MUT	ESR1:Y537S			Hormonal therapy	Fulvestrant	Resistant	Pre-clinical		PMID:27986707	RDientsmann	07/17	BRCA		TRUE		Fulvestrant (Hormonal therapy)	Breast adenocarcinoma
MDM2 amplification	MDM2	CNA	MDM2:amp			[MDM2 inhibitor]	[]	Responsive	Early trials		PMID:23084521;ASCO 2015 (abstr 10564)	RDientsmann	01/16	LIP		TRUE		MDM2 inhibitors	Liposarcoma
EGFR inframe deletion (L747),inframe insertion (P753PS)	EGFR	MUT	EGFR::consequence::inframe_deletion:L747.,::inframe_insertion:P753PS		Approved	EGFR inhibitor 1st gen	Gefitinib	No Responsive	Case report		PMID:21274259	RDientsmann		HNC		TRUE		Gefitinib (EGFR inhibitor 1st gen)	Head an neck
MDM4 amplification	MDM4	CNA	MDM4:amp			[MDM2/MDMX inhibitor]	[]	Responsive	Pre-clinical		PMID:24336067	RDientsmann		S		TRUE		MDM2/MDMX inhibitors	Sarcoma
EGFR amplification	EGFR	CNA	EGFR:amp		Approved	EGFR inhibitor 1st gen	Gefitinib	No Responsive	Early trials		PMID:21274259;PMID:22261807	RDientsmann		HNC		TRUE		Gefitinib (EGFR inhibitor 1st gen)	Head an neck
MET kinase domain mutation	MET	MUT	MET:1078-1345			MET inhibitor	Savolitinib	Responsive	Early trials		PMID:28644771	RDientsmann	07/17	R		TRUE		Savolitinib (MET inhibitor)	Renal
MET amplification	MET	CNA	MET:amp			[BCL2 inhibitor]	[]	Responsive	Pre-clinical		PMID:27397505	RDientsmann	07/16	COREAD		TRUE		BCL2 inhibitors	Colorectal adenocarcinoma
EGFR (V843I)	EGFR	MUT	EGFR:V843I		Approved	EGFR inhibitor 1st gen	Gefitinib	No Responsive	Case report		PMID:21274259	RDientsmann		HNC		TRUE		Gefitinib (EGFR inhibitor 1st gen)	Head an neck
SLC29A1 oncogenic mutation	SLC29A1	MUT	SLC29A1:.			Chemotherapy	Gemcitabine	Resistant	Pre-clinical		PMID:21166756	ARodriguez-Vida	09/15	BLCA	BLCA	TRUE	SLC29A1 is HENT1 used symbol	Gemcitabine (Chemotherapy)	Bladder
MET amplification	MET	CNA	MET:amp			[MET inhibitor]	[]	Responsive	Case report		ENA 2015 (abstract A55)	RDientsmann	01/16	HC		TRUE		MET inhibitors	Hepatic carcinoma
MET amplification	MET	CNA	MET:amp			[MET inhibitor]	[]	Responsive	Pre-clinical		PMID:22729845;PMID:23327903	RDientsmann	01/16	ST		TRUE		MET inhibitors	Stomach
MET amplification	MET	CNA	MET:amp			[MET inhibitor]	[]	Responsive	Early trials		PMID:23213094;AACR 2016 (abstr CT2006)	RDientsmann	06/16	R		TRUE		MET inhibitors	Renal
BTK (C481)	BTK	MUT	BTK:C481.			BTK inhibitor	Ibrutinib	Resistant	Case report		PMID:25082755	RDientsmann		MCL		TRUE		Ibrutinib (BTK inhibitor)	Mantle cell lymphoma
MET (H1112R)	MET	MUT	MET:H1112R			[MET inhibitor]	[]	Responsive	Early trials		PMID:23213094	RDientsmann	01/16	R		TRUE	REMAP:H1094r changed to H1112R	MET inhibitors	Renal
MET (M1268T)	MET	MUT	MET:M1268T			[MET inhibitor]	[]	Responsive	Case report		PMID:23610116	RDientsmann	01/16	R		TRUE		MET inhibitors	Renal
MET (H1112L)	MET	MUT	MET:H1112L			[MET inhibitor]	[Crizotinib]	Responsive	Pre-clinical		AACR 2012 (abstr 1786)	RDientsmann		CANCER		TRUE		MET inhibitors (Crizotinib,etc)	Any cancer type
MET amplification	MET	CNA	MET:amp		Clinical Trials	Pan-kinase inhibitor;EGFR mAb inhibitor	Cabozantinib;Panitumumab	Responsive	Case report		ENA 2015 (abstr A52)	RDientsmann	11/15	COREAD		TRUE		Cabozantinib + Panitumumab (Pan-kinase inhibitor + EGFR mAb inhibitor)	Colorectal adenocarcinoma
MET fusion	MET	FUS	MET__.			ALK inhibitor	Crizotinib	Responsive	Case report		PMID:27748748	RDientsmann	12/16	G		TRUE		Crizotinib (ALK inhibitor)	Glioma
MET mutation in exon 16-19	MET	MUT	MET:1132-1330			ALK inhibitor	Crizotinib	Responsive	Early trials		AACR 2016 (abstr CT2006)	RDientsmann	06/16	R		TRUE	EXON 16-19	Crizotinib (ALK inhibitor)	Renal
MET amplification	MET	CNA	MET:amp		Clinical Trials	ALK inhibitor	Crizotinib	Responsive	Early trials		NCT02499614;ASCO 2015 (abstr 2595)	EArriola;CRubio-Perez	01/16	NSCLC		TRUE		Crizotinib (ALK inhibitor)	Non-small cell lung
MET amplification	MET	CNA	MET:amp			ALK inhibitor	Crizotinib	Responsive	Early trials		ASCO 2014 (abstr 8001);ASCO 2015 (abstr 2595);ASCO GI 2015 (abstr 1)	RDientsmann	01/16	LUAD;ST		TRUE		Crizotinib (ALK inhibitor)	Lung adenocarcinoma;Stomach
MET amplification	MET	CNA	MET:amp			ALK inhibitor	Crizotinib	Responsive	Case report		PMID:22162573	RDientsmann	01/16	G		TRUE		Crizotinib (ALK inhibitor)	Glioma
MET (V1110I,H1112R,M1268T,R988C,T1010I)	MET	MUT	MET:V1110I,H1112R,M1268T,R988C,T1010I			ALK inhibitor	Crizotinib	Responsive	Pre-clinical		PMID:17483355	RDientsmann		CANCER		TRUE	REMAP:H1094R changed to H1112R, v1092i changed to v1110i (all mutations annotated in same transcript ENST00000318493; these mutations where from ENST00000397752)	Crizotinib (ALK inhibitor)	Any cancer type
BTK (C481S)	BTK	MUT	BTK:C481S			BTK inhibitor	Ibrutinib	Resistant	Early trials		PMID:24869598;PMID:27199251	RDientsmann		CLL		TRUE		Ibrutinib (BTK inhibitor)	Chronic lymphocytic leukemia
PLCG2 (R665W,L845F)	PLCG2	MUT	PLCG2:R665W,L845F		Approved	BTK inhibitor	Ibrutinib	Resistant	Early trials		PMID:24869598	RDientsmann		CLL		TRUE		Ibrutinib (BTK inhibitor)	Chronic lymphocytic leukemia
ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G)	ABL1	MUT	ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G		Approved	BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Resistant	European LeukemiaNet guidelines		PMID:21562040	CRubio-Perez	12/15	CML		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Chronic myeloid leukemia
MET amplification + BRAF (V600E)	MET;BRAF	CNA;MUT	MET:amp;BRAF:V600E			ALK inhibitor;BRAF inhibitor	Crizotinib;Vemurafenib	Responsive	Case report		PMID:27325282	RDientsmann	12/16	COREAD		TRUE		Crizotinib + Vemurafenib (ALK inhibitor + BRAF inhibitor)	Colorectal adenocarcinoma
KIT wildtype	KIT	MUT	KIT::wildtype:.			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Resistant	Late trials		PMID:18955458	RDientsmann		GIST		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Gastrointestinal stromal
KIT (627-664,664-714,449-514)	KIT	MUT	KIT:627-664,664-714,449-514			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Resistant	Late trials		PMID:18955458;PMID:18955451;PMID:16624552	RDientsmann	01/16	GIST		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Gastrointestinal stromal
MET amplification + ERBB2 amplification	MET;ERBB2	CNA;CNA	MET:amp;ERBB2:amp			ALK inhibitor;ERBB2 mAb inhibitor	Crizotinib;Trastuzumab	Responsive	Case report		PMID:26432108	RDientsmann	01/16	ST		TRUE		Crizotinib + Trastuzumab (ALK inhibitor + ERBB2 mAb inhibitor)	Stomach
MET amplification + ERBB2 amplification	MET;ERBB2	CNA;CNA	MET:amp;ERBB2:amp			ALK inhibitor;ERBB2 mAb inhibitor	Crizotinib;Trastuzumab	Responsive	Case report		PMID:26432108	RDientsmann	01/16	ST		TRUE		Crizotinib + Trastuzumab (ALK inhibitor + ERBB2 mAb inhibitor)	Stomach
KIT mutation in exon 17	KIT	MUT	KIT:788-828			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Resistant	Pre-clinical		PMID:23840364	RDientsmann	01/16	GIST		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Gastrointestinal stromal
KIT mutation in exon 17 or 18	KIT	MUT	KIT:788-828,829-860			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Resistant	Early trials		PMID:21690468;PMID:21642685	RDientsmann		CM		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Cutaneous melanoma
KIT amplification	KIT	CNA	KIT:amp			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	No Responsive	Early trials		PMID:23775962	RDientsmann		CM		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Cutaneous melanoma
KIT (D816)	KIT	MUT	KIT:D816.		Approved	BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Resistant	FDA guidelines		FDA	CRubio-Perez;DTamborero;RDientsmann		GIST;MDS;MDPS;HES;ECL;CML;ALL;SM		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Gastrointestinal stromal;Myelodisplasic syndrome;Myelodisplasic proliferative syndrome;Hyper eosinophilic advanced snydrome;Eosinophilic chronic leukemia;Chronic myeloid leukemia;Acute lymphoblastic leukemia;Systemic mastocytosis
KIT (T670I)	KIT	MUT	KIT:T670I			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Resistant	FDA guidelines		PMID:24687822	RDientsmann;RShadrina		GIST		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Gastrointestinal stromal
MKI67 overexpression	MKI67	EXPR	MKI67:over	Indirect	Approved	Pan-TK inhibitor	Sunitinib	Responsive	Pre-clinical	Cell line	PMID:24086736	ARodriguez-Vida	09/15	R		TRUE		Sunitinib (Pan-TK inhibitor)	Renal
MLL fusion	MLL	FUS	MLL__.			[BET inhibitor]	[]	Responsive	Pre-clinical		PMID:21964340	RDientsmann	01/16	AML		TRUE		BET inhibitors	Acute myeloid leukemia
MLL fusion	MLL	FUS	MLL__.	Indirect	Approved	HDAC inhibitor	Belinostat	Responsive	Early trials		NCT00351975;NCT00357032;PMID:22015773	ECampo;RDientsmann		AML		TRUE		Belinostat (HDAC inhibitor)	Acute myeloid leukemia
MLL fusion	MLL	FUS	MLL__.		Approved	Chemotherapy	Daunorubicin	Responsive	FDA guidelines		PMID:22417203	RDientsmann		AML		TRUE		Daunorubicin (Chemotherapy)	Acute myeloid leukemia
MLL fusion	MLL	FUS	MLL__.	Indirect	Clinical Trials	DOTL1 inhibitor	EPZ-5676	Responsive	Early trials		NCT02141828;NCT01684150;PMID:21741596	ECampo;RDientsmann		AML;ALL;MDS		TRUE		EPZ-5676 (DOTL1 inhibitor)	Acute myeloid leukemia;Acute lymphoblastic leukemia;Myelodisplasic syndrome
MLL2 oncogenic mutation	MLL2	MUT	MLL2:.			AR inhibitor	Bicalutamide	Responsive	Pre-clinical		PMID:27397505	RDientsmann	07/16	LUSC		TRUE		Bicalutamide (AR inhibitor)	Lung squamous cell
MPL (W515F)	MPL	MUT	MPL:W515F			[JAK inhibitor]	[]	Responsive	Pre-clinical		PMID:16834459	RDientsmann		MDPS		TRUE		JAK inhibitors	Myelodisplasic proliferative syndrome
MSH3 oncogenic mutation	MSH3	MUT	MSH3:.			[DNA-PKc inhibitor]	[]	Responsive	Pre-clinical		PMID:24556366	RDientsmann		CANCER		TRUE		DNA-PKc inhibitors	Any cancer type
MTOR (F2108L)	MTOR	MUT	MTOR:F2108L			[MTOR kinase inhibitor]	[]	Responsive	Pre-clinical		PMID:25295501	RDientsmann	01/16	CANCER		TRUE		MTOR kinase inhibitors	Any cancer type
MTOR (E2014K,E2419K,N1421D)	MTOR	MUT	MTOR:E2014K,E2419K,N1421D			MTOR inhibitor	Everolimus	Responsive	Case report		PMID:24625776	RDientsmann	01/16	BLCA		TRUE		Everolimus (MTOR inhibitor)	Bladder
KIT (V559I,H697Y,T670,V654A,A829P,D816,N822,Y823D)	KIT	MUT	KIT:V559I,H697Y,T670.,V654A,A829P,D816.,N822.,Y823D			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Resistant	Pre-clinical		PMID:23582185;PMID:21689725;PMID:17259998	RDientsmann		GIST		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Gastrointestinal stromal
MTOR (I1973F)	MTOR	MUT	MTOR:I1973F			MTOR inhibitor	Everolimus	Responsive	Case report		ASCO 2015 (abstr 11010);PMID:26859683	RDientsmann	06/16	AS;R		TRUE		Everolimus (MTOR inhibitor)	Angiosarcoma;Renal
MTOR (K1771R)	MTOR	MUT	MTOR:K1771R			MTOR inhibitor	Everolimus	Responsive	Case report		ASCO 2015 (abstr 11010);PMID:26859683	RDientsmann	01/16	ST;AG		TRUE		Everolimus (MTOR inhibitor)	Stomach;Anaplastic oligodendroglioma
MTOR (N1421D)	MTOR	MUT	MTOR:N1421D			MTOR inhibitor	Everolimus	Responsive	Case report		PMID:26859683	RDientsmann	06/16	ST		TRUE		Everolimus (MTOR inhibitor)	Stomach
MTOR (Q2223K)	MTOR	MUT	MTOR:Q2223K			MTOR inhibitor	Everolimus	Responsive	Case report		PMID:24622468	RDientsmann	01/16	R		TRUE		Everolimus (MTOR inhibitor)	Renal
MTOR (L1460P,S2215Y,R2505P)	MTOR	MUT	MTOR:L1460P,S2215Y,R2505P			MTOR inhibitor	Sirolimus	Responsive	Pre-clinical		PMID:24631838	RDientsmann		CANCER		TRUE		Sirolimus (MTOR inhibitor)	Any cancer type
MYC amplification	MYC	CNA	MYC:amp			[BET inhibitor]	[]	Responsive	Pre-clinical		PMID:21889194;PMID:23430699	RDientsmann		MYMA;NB		TRUE		BET inhibitors	Myeloma;Neuroblastoma
MYC amplification	MYC	CNA	MYC:amp			[CDK7 inhibitor]	[]	Responsive	Pre-clinical		PMID:25416950	RDientsmann		NB		TRUE		CDK7 inhibitors	Neuroblastoma
MYC amplification	MYC	CNA	MYC:amp			[FACT inhibitor]	[]	Responsive	Pre-clinical		PMID:26537256	RDientsmann	11/15	NB		TRUE		FACT inhibitors	Neuroblastoma
MYC amplification	MYC	CNA	MYC:amp			[PIM inhibitor]	[]	Responsive	Pre-clinical		PMID:25505253	RDientsmann		PRAD		TRUE		PIM inhibitors	Prostate adenocarcinoma
MYC amplification	MYC	CNA	MYC:amp			Chemotherapy	Temozolomide	Responsive	Pre-clinical		PMID:27397505	RDientsmann	07/16	COREAD		TRUE		Temozolomide (Chemotherapy)	Colorectal adenocarcinoma
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			Chemotherapy;BCL2 inhibitor	Decitabine;BCL2 inhibitor	Responsive	Pre-clinical		PMID:25968887	RDientsmann	01/16	OV		TRUE		Decitabine + BCL2 inhibitor (Chemotherapy + BCL2 inhibitor)	Ovary
MYD88 (L265P)	MYD88	MUT	MYD88:L265P			BTK inhibitor	Ibrutinib	Responsive	FDA guidelines		PMID:25853747	RDientsmann	12/16	WM		TRUE		Ibrutinib (BTK inhibitor)	Waldenström macroglobulinemia
NF1 oncogenic mutation	NF1	MUT	NF1:.			[AURK inhibitor]	[]	Responsive	Pre-clinical		PMID:24373973	RDientsmann	07/16	MPN		TRUE	germline	AURK inhibitors	Malignant peripheral nerve sheat tumor
NF1 deletion	NF1	CNA	NF1:del			[AURK inhibitor]	[]	Responsive	Pre-clinical		PMID:24373973	RDientsmann	07/16	MPN		TRUE	germline	AURK inhibitors	Malignant peripheral nerve sheat tumor
NF1 oncogenic mutation	NF1	MUT	NF1:.			[BRD4 inhibitor]	[]	Responsive	Pre-clinical		PMID:24373973	RDientsmann	07/16	MPN		TRUE	germline	BRD4 inhibitors	Malignant peripheral nerve sheat tumor
NF1 deletion	NF1	CNA	NF1:del			[BRD4 inhibitor]	[]	Responsive	Pre-clinical		PMID:24373973	RDientsmann	07/16	MPN		TRUE	germline	BRD4 inhibitors	Malignant peripheral nerve sheat tumor
NF1 oncogenic mutation	NF1	MUT	NF1:.			[KIT inhibitor;MTOR inhibitor]	[]	Responsive	Pre-clinical		PMID:24718867	RDientsmann	07/16	MPN		TRUE	germline	KIT inhibitor + MTOR inhibitors	Malignant peripheral nerve sheat tumor
NF1 deletion	NF1	CNA	NF1:del			[KIT inhibitor;MTOR inhibitor]	[]	Responsive	Pre-clinical		PMID:24718867	RDientsmann	07/16	MPN		TRUE	germline	KIT inhibitor + MTOR inhibitors	Malignant peripheral nerve sheat tumor
NF1 oncogenic mutation	NF1	MUT	NF1:.			[MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:23221341	RDientsmann	07/16	MPN		TRUE		MEK inhibitors	Malignant peripheral nerve sheat tumor
NF1 oncogenic mutation	NF1	MUT	NF1:.			[MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:22573716;PMID:19727076	RDientsmann	07/16	G;LK		TRUE		MEK inhibitors	Glioma;Leukemia
NF1 deletion	NF1	CNA	NF1:del			[MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:23221341	RDientsmann	07/16	MPN		TRUE		MEK inhibitors	Malignant peripheral nerve sheat tumor
NF1 deletion	NF1	CNA	NF1:del			[MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:22573716;PMID:19727076	RDientsmann	07/16	G;LK		TRUE		MEK inhibitors	Glioma;Leukemia
NF1 oncogenic mutation	NF1	MUT	NF1:.			[MTOR inhibitor;HSP90 inhibitor]	[]	Responsive	Pre-clinical		PMID:21907929	RDientsmann	07/16	MPN		TRUE	germline	MTOR inhibitor + HSP90 inhibitors	Malignant peripheral nerve sheat tumor
NF1 deletion	NF1	CNA	NF1:del			[MTOR inhibitor;HSP90 inhibitor]	[]	Responsive	Pre-clinical		PMID:21907929	RDientsmann	07/16	MPN		TRUE	germline	MTOR inhibitor + HSP90 inhibitors	Malignant peripheral nerve sheat tumor
NF1 oncogenic mutation	NF1	MUT	NF1:.			[MTOR inhibitor]	[]	Responsive	Pre-clinical		PMID:19573811;PMID:18483311;PMID:20505189;PMID:24509877	RDientsmann	07/16	G;MPN;LK		TRUE		MTOR inhibitors	Glioma;Malignant peripheral nerve sheat tumor;Leukemia
NF1 deletion	NF1	CNA	NF1:del			[MTOR inhibitor]	[]	Responsive	Pre-clinical		PMID:19573811;PMID:18483311;PMID:20505189;PMID:24509877	RDientsmann	07/16	G;MPN;LK		TRUE		MTOR inhibitors	Glioma;Malignant peripheral nerve sheat tumor;Leukemia
NF1 oncogenic mutation	NF1	MUT	NF1:.			[Pan-RAF inhibitor;MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:26351322	RDientsmann	07/16	CM		TRUE		Pan-RAF inhibitor + MEK inhibitors	Cutaneous melanoma
NF1 deletion	NF1	CNA	NF1:del			[Pan-RAF inhibitor;MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:26351322	RDientsmann	07/16	CM		TRUE		Pan-RAF inhibitor + MEK inhibitors	Cutaneous melanoma
NF1 oncogenic mutation	NF1	MUT	NF1:.			[PD1 Ab inhibitor]	[]	Responsive	Early trials		ASCO 2016 (abstr 105)	RDientsmann	07/16	CM		TRUE		PD1 Ab inhibitors	Cutaneous melanoma
NF1 deletion	NF1	CNA	NF1:del			[PD1 Ab inhibitor]	[]	Responsive	Early trials		ASCO 2016 (abstr 105)	RDientsmann	07/16	CM		TRUE	, PD1 expression higher in NF1 mutant melanoma (PMID 26960397)	PD1 Ab inhibitors	Cutaneous melanoma
PDGFRA wildtype	PDGFRA	MUT	PDGFRA::wildtype:.			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Resistant	Late trials		PMID:14645423;PMID:18955458	RDientsmann		GIST		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Gastrointestinal stromal
PDGFRA (D842V)	PDGFRA	MUT	PDGFRA:D842V			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Resistant	Late trials,Pre-clinical		PMID:22718859;PMID:16638875	RDientsmann	01/16	GIST		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Gastrointestinal stromal
NF1 oncogenic mutation	NF1	MUT	NF1:.			VEGFR mAb inhibitor	Bevacizumab	Responsive	Case report		PMID:24232489;PMID:2485933	RDientsmann	07/16	G		TRUE	germline	Bevacizumab (VEGFR mAb inhibitor)	Glioma
NF1 deletion	NF1	CNA	NF1:del			VEGFR mAb inhibitor	Bevacizumab	Responsive	Case report		PMID:24232489;PMID:2485933	RDientsmann	07/16	G		TRUE	germline	Bevacizumab (VEGFR mAb inhibitor)	Glioma
PDGFRA (T674I)	PDGFRA	MUT	PDGFRA:T674I			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Resistant	Case report		PMID:12660384	RDientsmann		HES		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Hyper eosinophilic advanced snydrome
ERBB2 (K753E)	ERBB2	MUT	ERBB2:K753E			ERBB2 inhibitor	Lapatinib	Resistant	Pre-clinical		PMID:27697991	RDientsmann	12/16	BRCA		TRUE		Lapatinib (ERBB2 inhibitor)	Breast adenocarcinoma
MET amplification + ERBB2 amplification	MET;ERBB2	CNA;CNA	MET:amp;ERBB2:amp			ERBB2 inhibitor	Lapatinib	Resistant	Pre-clinical		PMID:22238368	RDientsmann	01/16	ST		TRUE		Lapatinib (ERBB2 inhibitor)	Stomach
NTRK1 (G595R)	NTRK1	MUT	NTRK1:G595R			TRK Kinase Inhibitor	Larotrectinib	Resistant	Pre-clinical		PMID:28578312	RDientsmann	07/17	CANCER		TRUE		Larotrectinib (TRK Kinase Inhibitor)	Any cancer type
NTRK3 (G623R)	NTRK3	MUT	NTRK3:G623R			TRK Kinase Inhibitor	Larotrectinib	Resistant	Pre-clinical		PMID:28578312	RDientsmann	07/17	CANCER		TRUE		Larotrectinib (TRK Kinase Inhibitor)	Any cancer type
CRBN oncogenic mutation	CRBN	MUT	CRBN:.			Immunomodulator	Lenalidomide	Resistant	Case report		PMID:25108355	DTamborero		MYMA		TRUE	. other mutation disrupting IMID - CRBN or CRBN - ubiqutin complex may confer IMiD resistance	Lenalidomide (Immunomodulator)	Myeloma
CRBN (Q100*,R283K)	CRBN	MUT	CRBN:Q100*,R283K			Immunomodulator	Lenalidomide	Resistant	Case report		PMID:23480694	DTamborero		MYMA		TRUE	REMAP:Q99 changed to Q100 (meaning that i change from ENSTENST00000432408 to ENST00000231948) (chr3:g.3195747C>T chr3:g.3215822G>A)	Lenalidomide (Immunomodulator)	Myeloma
NF1 oncogenic mutation	NF1	MUT	NF1:.			MTOR inhibitor	Everolimus	Responsive	Case report		PMID:26859683;ASCO 2016 (abstr e17557)	RDientsmann	07/16	HNC;SG		TRUE		Everolimus (MTOR inhibitor)	Head an neck;Salivary glands
NF1 oncogenic mutation	NF1	MUT	NF1:.	Indirect	Approved	MTOR inhibitor	Everolimus	Responsive	Late trials		NCT01365468	MMartínez	09/15	NF		TRUE	benign	Everolimus (MTOR inhibitor)	Neurofibroma
NF1 (D1644A)	NF1	MUT	NF1:D1644A			MTOR inhibitor	Everolimus	Responsive	Case report		ASCO 2015 (abstr 11010);PMID:26859683	RDientsmann	06/16	HNC		TRUE		Everolimus (MTOR inhibitor)	Head an neck
CRBN undexpression	CRBN	EXPR	CRBN:under			Immunomodulator	Lenalidomide	Resistant	Case report		PMID:21860026	DTamborero		MYMA		TRUE	several manuscripts reporting that the IMiD resistant patients exhibit lower CRBN expression	Lenalidomide (Immunomodulator)	Myeloma
NF1 deletion	NF1	CNA	NF1:del			MTOR inhibitor	Everolimus	Responsive	Case report		PMID:26859683;ASCO 2016 (abstr e17557)	RDientsmann	07/16	HNC;SG		TRUE		Everolimus (MTOR inhibitor)	Head an neck;Salivary glands
LRP1B oncogenic mutation	LRP1B	MUT	LRP1B:.			Chemotherapy	Liposomal Doxorubicin	Resistant	Early trials		PMID:22896685	RDientsmann		OV		TRUE		Liposomal Doxorubicin (Chemotherapy)	Ovary
LRP1B deletion	LRP1B	CNA	LRP1B:del			Chemotherapy	Liposomal Doxorubicin	Resistant	Early trials		PMID:22896685	RDientsmann		OV		TRUE		Liposomal Doxorubicin (Chemotherapy)	Ovary
STK11 oncogenic mutation + KRAS oncogenic mutation	STK11;KRAS	MUT;MUT	STK11:.;KRAS:.			MEK inhibitor;Chemotherapy	MEK inhibitor;Docetaxel	Resistant	Pre-clinical		PMID:22425996	RDientsmann	01/16	LUAD		TRUE		MEK inhibitor + Docetaxel (MEK inhibitor + Chemotherapy)	Lung adenocarcinoma
STK11 deletion + KRAS oncogenic mutation	STK11;KRAS	CNA;MUT	STK11:del;KRAS:.			MEK inhibitor;Chemotherapy	MEK inhibitor;Docetaxel	Resistant	Pre-clinical		PMID:22425996	RDientsmann	01/16	LUAD		TRUE		MEK inhibitor + Docetaxel (MEK inhibitor + Chemotherapy)	Lung adenocarcinoma
NF1 oncogenic mutation	NF1	MUT	NF1:.			MTOR inhibitor;VEGFR inhibitor	Everolimus;Pazopanib	Responsive	Case report		PMID:24931142	RDientsmann	07/16	HC		TRUE		Everolimus + Pazopanib (MTOR inhibitor + VEGFR inhibitor)	Hepatic carcinoma
NF1 oncogenic mutation	NF1	MUT	NF1:.			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Responsive	Early trials		PMID:23099009	RDientsmann	07/16	PLEN		TRUE	germline	Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Plexiform neurofibroma
NF1 deletion	NF1	CNA	NF1:del			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Responsive	Early trials		PMID:23099009	RDientsmann	07/16	PLEN		TRUE	germline	Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Plexiform neurofibroma
NF1 oncogenic mutation	NF1	MUT	NF1:.			BCR-ABL inhibitor 2nd gen	Nilotinib	Responsive	Pre-clinical		PMID:24173684	RDientsmann	07/16	PLEN;MPN		TRUE	germline	Nilotinib (BCR-ABL inhibitor 2nd gen)	Plexiform neurofibroma;Malignant peripheral nerve sheat tumor
NF1 deletion	NF1	CNA	NF1:del			BCR-ABL inhibitor 2nd gen	Nilotinib	Responsive	Pre-clinical		PMID:24173684	RDientsmann	07/16	PLEN;MPN		TRUE	germline	Nilotinib (BCR-ABL inhibitor 2nd gen)	Plexiform neurofibroma;Malignant peripheral nerve sheat tumor
NF1 oncogenic mutation	NF1	MUT	NF1:.			Pan-TK inhibitor	PLX3397	Responsive	Pre-clinical		PMID:23099891	RDientsmann	07/16	PLEN		TRUE	germline	PLX3397 (Pan-TK inhibitor)	Plexiform neurofibroma
NF1 deletion	NF1	CNA	NF1:del			Pan-TK inhibitor	PLX3397	Responsive	Pre-clinical		PMID:23099891	RDientsmann	07/16	PLEN		TRUE	germline	PLX3397 (Pan-TK inhibitor)	Plexiform neurofibroma
NF1 oncogenic mutation	NF1	MUT	NF1:.			MEK inhibitor	Selumetinib	Responsive	Early trials		ASCO 2014 (abstr 10018)	RDientsmann	07/16	PLEN		TRUE	germline	Selumetinib (MEK inhibitor)	Plexiform neurofibroma
NF1 deletion	NF1	CNA	NF1:del			MEK inhibitor	Selumetinib	Responsive	Early trials		ASCO 2014 (abstr 10018)	RDientsmann	07/16	PLEN		TRUE	germline	Selumetinib (MEK inhibitor)	Plexiform neurofibroma
NF1 oncogenic mutation	NF1	MUT	NF1:.			MTOR inhibitor	Sirolimus	Responsive	Early trials		PMID:25314964	RDientsmann	07/16	PLEN		TRUE	germline	Sirolimus (MTOR inhibitor)	Plexiform neurofibroma
NF1 deletion	NF1	CNA	NF1:del			MTOR inhibitor	Sirolimus	Responsive	Early trials		PMID:25314964	RDientsmann	07/16	PLEN		TRUE	germline	Sirolimus (MTOR inhibitor)	Plexiform neurofibroma
NF1 oncogenic mutation	NF1	MUT	NF1:.			MTOR inhibitor;EGFR inhibitor 1st gen	Sirolimus;Erlotinib	Responsive	Case report		PMID:22434731	RDientsmann	07/16	G		TRUE	germline, rampamycin = sirolimus	Sirolimus + Erlotinib (MTOR inhibitor + EGFR inhibitor 1st gen)	Glioma
NF1 deletion	NF1	CNA	NF1:del			MTOR inhibitor;EGFR inhibitor 1st gen	Sirolimus;Erlotinib	Responsive	Case report		PMID:22434731	RDientsmann	07/16	G		TRUE	germline, rampamycin = sirolimus	Sirolimus + Erlotinib (MTOR inhibitor + EGFR inhibitor 1st gen)	Glioma
NF1 oncogenic mutation	NF1	MUT	NF1:.			Pan-TK inhibitor;MTOR inhibitor	Sorafenib;Sirolimus	Responsive	Pre-clinical		PMID:25810463	RDientsmann	07/16	MPN		TRUE	germline	Sorafenib + Sirolimus (Pan-TK inhibitor + MTOR inhibitor)	Malignant peripheral nerve sheat tumor
NF1 deletion	NF1	CNA	NF1:del			Pan-TK inhibitor;MTOR inhibitor	Sorafenib;Sirolimus	Responsive	Pre-clinical		PMID:25810463	RDientsmann	07/16	MPN		TRUE	germline	Sorafenib + Sirolimus (Pan-TK inhibitor + MTOR inhibitor)	Malignant peripheral nerve sheat tumor
NF1 oncogenic mutation	NF1	MUT	NF1:.			Hormonal therapy	Tamoxifen	Responsive	Pre-clinical		PMID:21075781	RDientsmann	07/16	MPN		TRUE	germline	Tamoxifen (Hormonal therapy)	Malignant peripheral nerve sheat tumor
NF1 deletion	NF1	CNA	NF1:del			Hormonal therapy	Tamoxifen	Responsive	Pre-clinical		PMID:21075781	RDientsmann	07/16	MPN		TRUE	germline	Tamoxifen (Hormonal therapy)	Malignant peripheral nerve sheat tumor
ERBB2 (T798I)	ERBB2	MUT	ERBB2:T798I			ERBB2 inhibitor	Neratinib	Resistant	Case report		PMID:28274957	RDientsmann	07/17	BRCA		TRUE		Neratinib (ERBB2 inhibitor)	Breast adenocarcinoma
ABL1 (E255K,E255V,Y253H,F359V,F359C,F359I)	ABL1	MUT	ABL1:E255K,E255V,Y253H,F359V,F359C,F359I		Approved	BCR-ABL inhibitor 2nd gen	Nilotinib	Resistant	NCCN guidelines		NCCN Guidelines Chronic Myeloid Leukemia 2022;NCCN Guidelines Acute Lymphoblastic Leukemia 2022;PMID:21562040	CRubio-Perez;RShadrina;SDemajo	12/15	CML;ALL		TRUE		Nilotinib (BCR-ABL inhibitor 2nd gen)	Chronic myeloid leukemia;Acute Lymphoblastic Leukemia
NF1 oncogenic mutation	NF1	MUT	NF1:.			MEK inhibitor	Trametinib	Responsive	Case report		PMID:26936308	RDientsmann	07/16	G		TRUE	germline	Trametinib (MEK inhibitor)	Glioma
NF1 oncogenic mutation	NF1	MUT	NF1:.			MEK inhibitor	Trametinib	Responsive	Pre-clinical		PMID:24576830;PMID:2524381	RDientsmann	07/16	CM		TRUE		Trametinib (MEK inhibitor)	Cutaneous melanoma
NF1 deletion	NF1	CNA	NF1:del			MEK inhibitor	Trametinib	Responsive	Case report		PMID:26936308	RDientsmann	07/16	G		TRUE	germline	Trametinib (MEK inhibitor)	Glioma
NF1 deletion	NF1	CNA	NF1:del			MEK inhibitor	Trametinib	Responsive	Pre-clinical		PMID:24576830;PMID:2524381	RDientsmann	07/16	CM		TRUE		Trametinib (MEK inhibitor)	Cutaneous melanoma
EGFR (C797S)	EGFR	MUT	EGFR:C797S			EGFR inhibitor 3rd gen	Osimertinib	Resistant	Early trials		PMID:25939061	RDientsmann	07/17	L		TRUE		Osimertinib (EGFR inhibitor 3rd gen)	Lung
EGFR (L718)	EGFR	MUT	EGFR:L718.			EGFR inhibitor 3rd gen	Osimertinib	Resistant	Early trials		ASCO 2017 (abstr 2572)	RDientsmann	07/17	L		TRUE		Osimertinib (EGFR inhibitor 3rd gen)	Lung
NF1 oncogenic mutation	NF1	MUT	NF1:.			Chemotherapy	Vinblastine	Responsive	Early trials		ASCO 2016 (abstr 2019)	RDientsmann	07/16	G		TRUE	germline	Vinblastine (Chemotherapy)	Glioma
NF1 deletion	NF1	CNA	NF1:del			Chemotherapy	Vinblastine	Responsive	Early trials		ASCO 2016 (abstr 2019)	RDientsmann	07/16	G		TRUE	germline	Vinblastine (Chemotherapy)	Glioma
NF1 oncogenic mutation	NF1	MUT	NF1:.			Chemotherapy;BCR-ABL inhibitor 2nd gen	Vinblastine;Nilotinib	Responsive	Case report		ASCO 2016 (abstr 10555)	RDientsmann	07/16	G		TRUE	germline	Vinblastine + Nilotinib (Chemotherapy + BCR-ABL inhibitor 2nd gen)	Glioma
NF1 deletion	NF1	CNA	NF1:del			Chemotherapy;BCR-ABL inhibitor 2nd gen	Vinblastine;Nilotinib	Responsive	Case report		ASCO 2016 (abstr 10555)	RDientsmann	07/16	G		TRUE	germline	Vinblastine + Nilotinib (Chemotherapy + BCR-ABL inhibitor 2nd gen)	Glioma
EGFR (L792)	EGFR	MUT	EGFR:L792.			EGFR inhibitor 3rd gen	Osimertinib	Resistant	Early trials		ASCO 2017 (abstr 2572)	RDientsmann	07/17	L		TRUE		Osimertinib (EGFR inhibitor 3rd gen)	Lung
ERBB2 amplification	ERBB2	CNA	ERBB2:amp		Approved	3rd generation EGFR inhibitor	Osimertinib	Resistant	Case report		PMID:27252416	EArriola	06/16	LUAD		TRUE		Osimertinib (3rd generation EGFR inhibitor)	Lung adenocarcinoma
MET amplification	MET	CNA	MET:amp		Approved	[EGFR inhibitor 3rd gen]	Osimertinib	Resistant	Case report		PMID:27252416	EArriola	06/16	LUAD		TRUE		EGFR inhibitor 3rd gens (Osimertinib,etc)	Lung adenocarcinoma
TUBB3 overexpression	TUBB3	EXPR	TUBB3:over			Taxane	Paclitaxel	Resistant	Pre-clinical		PMID:23184177	ARodriguez-Vida	09/15	BLCA	BLCA	TRUE		Paclitaxel (Taxane)	Bladder
CCND1 amplification	CCND1	CNA	CCND1:amp			CDK4/6 inhibitor	Palbociclib	No Responsive	Early trials		ASCO 2017 (abstr 9056)	RDientsmann	07/17	L		TRUE		Palbociclib (CDK4/6 inhibitor)	Lung
CDK4 amplification	CDK4	CNA	CDK4:amp			CDK4/6 inhibitor	Palbociclib	No Responsive	Early trials		ASCO 2017 (abstr 9056)	RDientsmann	07/17	L		TRUE		Palbociclib (CDK4/6 inhibitor)	Lung
NF2 oncogenic mutation	NF2	MUT	NF2:.			[FAK inhibitor]	[]	Responsive	Early trials		ENA 2012 (abstr 610)	RDientsmann	07/16	MESO		TRUE		FAK inhibitors	Mesothelioma
NF2 oncogenic mutation	NF2	MUT	NF2:.			[FAK inhibitor]	[]	Responsive	Pre-clinical		PMID:24848258;PMID:24786638	RDientsmann	07/16	MESO;OV		TRUE		FAK inhibitors	Mesothelioma;Ovary
NF2 deletion	NF2	CNA	NF2:del			[FAK inhibitor]	[]	Responsive	Early trials		ENA 2012 (abstr 610)	RDientsmann	07/16	MESO		TRUE		FAK inhibitors	Mesothelioma
NF2 deletion	NF2	CNA	NF2:del			[FAK inhibitor]	[]	Responsive	Pre-clinical		PMID:24848258;PMID:24786638	RDientsmann	07/16	MESO;OV		TRUE		FAK inhibitors	Mesothelioma;Ovary
NF2 oncogenic mutation	NF2	MUT	NF2:.			[HSP90 inhibitor]	[]	Responsive	Pre-clinical		PMID:23714726	RDientsmann	07/16	MEN		TRUE	germline	HSP90 inhibitors	Meningioma
NF2 deletion	NF2	CNA	NF2:del			[HSP90 inhibitor]	[]	Responsive	Pre-clinical		PMID:23714726	RDientsmann	07/16	MEN		TRUE	germline	HSP90 inhibitors	Meningioma
NF2 oncogenic mutation	NF2	MUT	NF2:.			[MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:26359368	RDientsmann	07/16	TH		TRUE		MEK inhibitors	Thyroid
NF2 deletion	NF2	CNA	NF2:del			[MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:26359368	RDientsmann	07/16	TH		TRUE		MEK inhibitors	Thyroid
NF2 oncogenic mutation	NF2	MUT	NF2:.			[MTOR inhibitor]	[]	Responsive	Pre-clinical		PMID:19451225;PMID:2242646	RDientsmann	07/18	MEN		TRUE		MTOR inhibitors	Meningioma
NF2 deletion	NF2	CNA	NF2:del			[MTOR inhibitor]	[]	Responsive	Pre-clinical		PMID:19451225;PMID:2242646	RDientsmann	07/17	MEN		TRUE		MTOR inhibitors	Meningioma
NF2 oncogenic mutation	NF2	MUT	NF2:.			[PAK inhibitor]	[]	Responsive	Pre-clinical		PMID:23960073;PMID:25596744	RDientsmann	07/16	SCHW;MEN		TRUE	germline	PAK inhibitors	Schwannoma;Meningioma
NF2 deletion	NF2	CNA	NF2:del			[PAK inhibitor]	[]	Responsive	Pre-clinical		PMID:23960073;PMID:25596744	RDientsmann	07/16	SCHW;MEN		TRUE	germline	PAK inhibitors	Schwannoma;Meningioma
NF2 oncogenic mutation	NF2	MUT	NF2:.			[PDK1 inhibitor]	[]	Responsive	Pre-clinical		PMID:19359162	RDientsmann	07/16	SCHW		TRUE	germline	PDK1 inhibitors	Schwannoma
NF2 deletion	NF2	CNA	NF2:del			[PDK1 inhibitor]	[]	Responsive	Pre-clinical		PMID:19359162	RDientsmann	07/16	SCHW		TRUE	germline	PDK1 inhibitors	Schwannoma
NF2 oncogenic mutation	NF2	MUT	NF2:.			HDAC inhibitor	AR42	Responsive	Pre-clinical		PMID:21778190	RDientsmann	07/16	SCHW		TRUE	germline	AR42 (HDAC inhibitor)	Schwannoma
NF2 oncogenic mutation	NF2	MUT	NF2:.			HDAC inhibitor	AR42	Responsive	Early trials		ASCO 2016 (abstr 2558)	RDientsmann	07/16	MEN		TRUE	germline,minor response	AR42 (HDAC inhibitor)	Meningioma
NF2 deletion	NF2	CNA	NF2:del			HDAC inhibitor	AR42	Responsive	Pre-clinical		PMID:21778190	RDientsmann	07/16	SCHW		TRUE	germline	AR42 (HDAC inhibitor)	Schwannoma
NF2 deletion	NF2	CNA	NF2:del			HDAC inhibitor	AR42	Responsive	Early trials		ASCO 2016 (abstr 2558)	RDientsmann	07/16	MEN		TRUE	germline,minor response	AR42 (HDAC inhibitor)	Meningioma
NF2 oncogenic mutation	NF2	MUT	NF2:.			VEGFR mAb inhibitor	Bevacizumab	Responsive	Early trials		PMID:19587327;PMID:22805104;PMID:26022982	RDientsmann	07/16	SCHW		TRUE	germline	Bevacizumab (VEGFR mAb inhibitor)	Schwannoma
NF2 deletion	NF2	CNA	NF2:del			VEGFR mAb inhibitor	Bevacizumab	Responsive	Early trials		PMID:19587327;PMID:22805104;PMID:26022982	RDientsmann	07/16	SCHW		TRUE	germline	Bevacizumab (VEGFR mAb inhibitor)	Schwannoma
BRAF (V600E)	BRAF	MUT	BRAF:V600E			EGFR mAb inhibitor	Panitumumab	Resistant	Late trials		PMID:20619739;PMID:21163703;PMID:23325582	RDientsmann		COREAD		TRUE		Panitumumab (EGFR mAb inhibitor)	Colorectal adenocarcinoma
EGFR (G465R)	EGFR	MUT	EGFR:G465R			EGFR mAb inhibitor	Panitumumab	Resistant	Case report		PMID:26059438	RDientsmann	01/16	COREAD		TRUE		Panitumumab (EGFR mAb inhibitor)	Colorectal adenocarcinoma
NF2 oncogenic mutation	NF2	MUT	NF2:.			MTOR inhibitor	Everolimus	Responsive	Early trials		PMID:24311643;2556735	RDientsmann	07/16	SCHW		TRUE	germline, minor responsiv	Everolimus (MTOR inhibitor)	Schwannoma
NF2 deletion	NF2	CNA	NF2:del			MTOR inhibitor	Everolimus	Responsive	Early trials		PMID:24311643;2556735	RDientsmann	07/16	SCHW		TRUE	germline, minor responsiv	Everolimus (MTOR inhibitor)	Schwannoma
NF2 oncogenic mutation	NF2	MUT	NF2:.			MTOR inhibitor;Somatostatin analog	Everolimus;Octreotide	Responsive	Pre-clinical		PMID:26015296	RDientsmann	07/16	MEN		TRUE		Everolimus + Octreotide (MTOR inhibitor + Somatostatin analog)	Meningioma
NF2 deletion	NF2	CNA	NF2:del			MTOR inhibitor;Somatostatin analog	Everolimus;Octreotide	Responsive	Pre-clinical		PMID:26015296	RDientsmann	07/16	MEN		TRUE		Everolimus + Octreotide (MTOR inhibitor + Somatostatin analog)	Meningioma
NF2 oncogenic mutation	NF2	MUT	NF2:.			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Responsive	Pre-clinical		PMID:19509233;PMID:2290085	RDientsmann	07/16	SCHW		TRUE	germline	Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Schwannoma
NF2 deletion	NF2	CNA	NF2:del			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Responsive	Pre-clinical		PMID:19509233;PMID:2290085	RDientsmann	07/16	SCHW		TRUE	germline	Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Schwannoma
NF2 oncogenic mutation	NF2	MUT	NF2:.			ERBB2 inhibitor	Lapatinib	Responsive	Early trials		PMID:22844108;NCT00973739	RDientsmann;MMartínez	07/16	SCHW;NF		TRUE	germline	Lapatinib (ERBB2 inhibitor)	Schwannoma;Neurofibroma
NF2 deletion	NF2	CNA	NF2:del			ERBB2 inhibitor	Lapatinib	Responsive	Early trials		PMID:22844108;NCT00973739	RDientsmann;MMartínez	07/16	SCHW;NF		TRUE	germline	Lapatinib (ERBB2 inhibitor)	Schwannoma;Neurofibroma
NF2 oncogenic mutation	NF2	MUT	NF2:.			MTOR inhibitor;Chemotherapy	Tensirolimus;Chemotherapy	Responsive	Case report		PMID:25878190	RDientsmann	07/16	BRCA		TRUE		Tensirolimus + Chemotherapy (MTOR inhibitor + Chemotherapy)	Breast adenocarcinoma
NF2 deletion	NF2	CNA	NF2:del			MTOR inhibitor;Chemotherapy	Tensirolimus;Chemotherapy	Responsive	Case report		PMID:25878190	RDientsmann	07/16	BRCA		TRUE		Tensirolimus + Chemotherapy (MTOR inhibitor + Chemotherapy)	Breast adenocarcinoma
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			Chemotherapy;MEK inhibitor	Gemcitabine;MEK inhibitor	Responsive	Early trials		PMID:23583440	RDientsmann	01/16	PA		TRUE		Gemcitabine + MEK inhibitor (Chemotherapy + MEK inhibitor)	Pancreas
KRAS oncogenic mutation	KRAS	MUT	KRAS:.		Clinical Trials	MEK inhibitor	Selumetinib	Responsive	Early trials		NCT00890825	EArriola	09/15	NSCLC		TRUE		Selumetinib (MEK inhibitor)	Non-small cell lung
NOTCH1 activating mutation in Cterm-PEST domain	NOTCH1	MUT	NOTCH1::consequence::missense_variant:1529-1732,::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536			[Gamma secretase inhibitor;CDK4 inhibitor]	[]	Responsive	Pre-clinical		PMID:19318552	RDientsmann	01/16	ALL		TRUE		Gamma secretase inhibitor + CDK4 inhibitors	Acute lymphoblastic leukemia
NOTCH1 activating mutation in Cterm-PEST domain	NOTCH1	MUT	NOTCH1::consequence::missense_variant:1529-1732,::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536			[Gamma secretase inhibitor;MTOR inhibitor]	[]	Responsive	Pre-clinical		PMID:19246562	RDientsmann	01/16	ALL		TRUE		Gamma secretase inhibitor + MTOR inhibitors	Acute lymphoblastic leukemia
NOTCH1 fusion	NOTCH1	FUS	NOTCH1__.			[Gamma secretase inhibitor]	[]	Responsive	Pre-clinical		PMID:16688224;PMID:23033986	RDientsmann	01/16	ALL		TRUE		Gamma secretase inhibitors	Acute lymphoblastic leukemia
NOTCH1 fusion	NOTCH1	FUS	NOTCH1__.			[Gamma secretase inhibitor]	[]	Responsive	Pre-clinical		PMID:22101766	RDientsmann		BRCA		TRUE		Gamma secretase inhibitors	Breast adenocarcinoma
NOTCH1 activating mutation in Cterm-PEST domain	NOTCH1	MUT	NOTCH1::consequence::missense_variant:1529-1732,::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536			[Gamma secretase inhibitor]	[]	Responsive	Early trials		ASCO 2006 (abstr 6585)	RDientsmann	01/16	ALL		TRUE		Gamma secretase inhibitors	Acute lymphoblastic leukemia
NOTCH1 activating mutation in Cterm-PEST domain	NOTCH1	MUT	NOTCH1::consequence::missense_variant:1529-1732,::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536			[Gamma secretase inhibitor]	[]	Responsive	Pre-clinical		PMID:15472075;PMID:19778842;PMID:22510873;PMID:23001755	RDientsmann	01/16	ALL		TRUE		Gamma secretase inhibitors	Acute lymphoblastic leukemia
NOTCH1 activating mutation in Cterm-PEST domain	NOTCH1	MUT	NOTCH1::consequence::missense_variant:1529-1732,::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536			[Gamma secretase inhibitor]	[]	Responsive	Pre-clinical		PMID:25564152	RDientsmann		BRCA		TRUE		Gamma secretase inhibitors	Breast adenocarcinoma
NOTCH1 oncogenic mutation	NOTCH1	MUT	NOTCH1:.			[Gamma secretase inhibitor]	[]	Responsive	Pre-clinical		PMID:22210878	RDientsmann		MCL		TRUE		Gamma secretase inhibitors	Mantle cell lymphoma
NOTCH1 splice donor variant (2245-2536),splice acceptor variant (2245-2536),stop gained (2245-2536),stop lost (2245-2536),frameshift variant (2245-2536)	NOTCH1	MUT	NOTCH1::consequence::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536			[NOTCH1 inhibitor]	[]	Responsive	Case report		PMID:27870570	RDientsmann	07/17	ADCC		TRUE		NOTCH1 inhibitors	Adenoid cystic carcinoma
NOTCH1 activating mutation in Cterm-PEST domain	NOTCH1	MUT	NOTCH1::consequence::missense_variant:1529-1732,::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536	Indirect	Clinical Trials	[Gamma secretase inhibitor]	[Ro4929097,Pf-03084014,Mk-0752]	Responsive	Early trials		NCT01703572;NCT01778439; NCT01098344; NCT01981551	ECampo		CANCER		TRUE		Gamma secretase inhibitors (Ro4929097,Pf-03084014,Mk-0752,etc)	Any cancer type
NOTCH1 activating mutation in Cterm-PEST domain	NOTCH1	MUT	NOTCH1::consequence::missense_variant:1529-1732,::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536	Direct	Clinical Trials	NOTCH1 inhibitor	OMP-52M51	Responsive	Early trials		NCT01703572;NCT01778439	ECampo		CANCER		TRUE		OMP-52M51 (NOTCH1 inhibitor)	Any cancer type
NOTCH2 fusion	NOTCH2	FUS	NOTCH2__.			[Gamma secretase inhibitor]	[]	Responsive	Pre-clinical		PMID:22101766	RDientsmann		BRCA		TRUE		Gamma secretase inhibitors	Breast adenocarcinoma
NOTCH2 activating mutation (missense in TAD or truncating in Cterm-PEST domain)	NOTCH2	MUT	NOTCH2::consequence::splice_donor_variant:2381-2420,::splice_acceptor_variant:2381-2420,::stop_gained:2381-2420,::stop_lost:2381-2420,::frameshift_variant:2381-2420	Direct	Clinical Trials	Gamma secretase inhibitor	Mk-0752	Responsive	Early trials		PMID:25564152	KKarube;RDientsmann		BRCA;AML;ALL		TRUE		Mk-0752 (Gamma secretase inhibitor)	Breast adenocarcinoma;Acute myeloid leukemia;Acute lymphoblastic leukemia
NOTCH2 activating mutation (missense in TAD or truncating in Cterm-PEST domain)	NOTCH2	MUT	NOTCH2::consequence::splice_donor_variant:2381-2420,::splice_acceptor_variant:2381-2420,::stop_gained:2381-2420,::stop_lost:2381-2420,::frameshift_variant:2381-2420	Direct	Clinical Trials	NOTCH2 inhibitor	OMP-59R5	Responsive	Early trials		NCT01859741;NCT01277146	ECampo		SOLID		TRUE		OMP-59R5 (NOTCH2 inhibitor)	Solid tumors
NPM1 oncogenic mutation	NPM1	MUT	NPM1:.			[DOT1L inhibitors;MLL1 inhibitors]	[]	Responsive	Pre-clinical		PMID:27535106	RDientsmann	12/16	AML		TRUE		DOT1L inhibitors + MLL1 inhibitors	Acute myeloid leukemia
NPM1 oncogenic mutation	NPM1	MUT	NPM1:.		Approved	Chemotherapy	Daunorubicin	Responsive	FDA guidelines		PMID:22417203	RDientsmann		AML		TRUE		Daunorubicin (Chemotherapy)	Acute myeloid leukemia
EGFR (T790M)	EGFR	MUT	EGFR:T790M			ERBB2 inhibitor&EGFR inhibitor 2nd gen	Afatinib	Resistant	NCCN/CAP guidelines		NCCN	RDientsmann	01/16	L		TRUE		Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen)	Lung
PTEN biallelic inactivation	PTEN	BIA	PTEN:.			EGFR mAb inhibitor	Panitumumab	Resistant	Case report		Caris molecular intelligence	DTamborero		COREAD		TRUE		Panitumumab (EGFR mAb inhibitor)	Colorectal adenocarcinoma
NRAS oncogenic mutation	NRAS	MUT	NRAS:.	Indirect	Approved	[CDK4/6 inhibitor;MEK inhibitor]	[]	Responsive	Early trials		PMID:26658964;NCT01781572;NCT02065063;NCT02022982;ASCO 2014 (abstr 9009)	DTamborero;CRubio-Perez;RDientsmann		CM		TRUE		CDK4/6 inhibitor + MEK inhibitors	Cutaneous melanoma
NRAS (G12C)	NRAS	MUT	NRAS:G12C			[ERK inhibitor]	[]	Responsive	Pre-clinical		PMID:23614898	RDientsmann		CANCER		TRUE		ERK inhibitors	Any cancer type
NRAS oncogenic mutation	NRAS	MUT	NRAS:.			[ERK inhibitor]	[]	Responsive	Case report		ASCO 2017 (abstr 2508)	RDientsmann	07/17	CM		TRUE		ERK inhibitors	Cutaneous melanoma
NRAS oncogenic mutation	NRAS	MUT	NRAS:.			[HSP90 inhibitor]	[]	Responsive	Pre-clinical		PMID:23538902	RDientsmann	07/17	CM		TRUE		HSP90 inhibitors	Cutaneous melanoma
NRAS oncogenic mutation	NRAS	MUT	NRAS:.			[MEK inhibitor +/- PI3K pathway inhibitor]	[]	Responsive	Pre-clinical		PMID:23274911;PMID:22392911	RDientsmann	01/16	COREAD		TRUE		MEK inhibitor +/- PI3K pathway inhibitors	Colorectal adenocarcinoma
NRAS oncogenic mutation	NRAS	MUT	NRAS:.			[MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:22507781;PMID:23515407;PMID:18701506	RDientsmann		AML;LUAD;ALL		TRUE		MEK inhibitors	Acute myeloid leukemia;Lung adenocarcinoma;Acute lymphoblastic leukemia
NRAS (Q61)	NRAS	MUT	NRAS:Q61.			[MEK inhibitor]	[]	Responsive	Late trials		PMID:23414587,ASCO 2016 (abstr 9500)	RDientsmann	06/16	CM		TRUE		MEK inhibitors	Cutaneous melanoma
NRAS oncogenic mutation	NRAS	MUT	NRAS:.			[Pan-RAF inhibitor]	[]	Responsive	Case report		ESMO 2015 (abstract 300);AACR 2017 (abstr CT002)	RDientsmann	07/17	CM		TRUE		Pan-RAF inhibitors	Cutaneous melanoma
NRAS oncogenic mutation	NRAS	MUT	NRAS:.			[PI3K pathway inhibitor;MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:22985491	RDientsmann		MYMA		TRUE		PI3K pathway inhibitor + MEK inhibitors	Myeloma
CRBN oncogenic mutation	CRBN	MUT	CRBN:.			Immunomodulator	Pomalidomide	Resistant	Case report		PMID:25108355	DTamborero		MYMA		TRUE	IMiD-compound pocket in TBD of the CRBN is formed by three tryptophan residues, Trp380, Trp386 and Trp400	Pomalidomide (Immunomodulator)	Myeloma
CRBN (Q100*,R283K)	CRBN	MUT	CRBN:Q100*,R283K			Immunomodulator	Pomalidomide	Resistant	Case report		PMID:23480694	DTamborero		MYMA		TRUE	REMAP:Q99 changed to Q100 (meaning that i changed from ENSTENST00000432408 to ENST00000231948) (chr3:g.3195747C>T chr3:g.3215822G>A)	Pomalidomide (Immunomodulator)	Myeloma
NRAS oncogenic mutation	NRAS	MUT	NRAS:.			Pan-TK inhibitor;MEK inhibitor	Sorafenib;MEK inhibitor	Responsive	Early Trials,Case Report		PMID:25294897	RDientsmann	01/16	HC		TRUE		Sorafenib + MEK inhibitor (Pan-TK inhibitor + MEK inhibitor)	Hepatic carcinoma
CRBN undexpression	CRBN	EXPR	CRBN:under			Immunomodulator	Pomalidomide	Resistant	Case report		PMID:21860026	DTamborero		MYMA		TRUE	several manuscripts reporting that the IMiD resistant patients exhibit lower CRBN expression	Pomalidomide (Immunomodulator)	Myeloma
NRG1 fusion	NRG1	FUS	NRG1__.			ERBB2&EGFR inhibitor 2nd gen	Afatinib	Responsive	Case report		AACR 2016 (abstr 2631)	RDientsmann	06/16	LUAD		TRUE		Afatinib (ERBB2&EGFR inhibitor 2nd gen)	Lung adenocarcinoma
NRG1 fusion	NRG1	FUS	NRG1__.			ERBB2 inhibitor	Lapatinib	Responsive	Pre-clinical		PMID:24727320	RDientsmann		LUAD		TRUE		Lapatinib (ERBB2 inhibitor)	Lung adenocarcinoma
NTRK1 fusion	NTRK1	FUS	NTRK1__.			[Pan-TK inhibitor]	[]	Responsive	Pre-clinical		PMID:24162815	RDientsmann	01/16	LUAD		TRUE		Pan-TK inhibitors	Lung adenocarcinoma
NTRK1 fusion	NTRK1	FUS	NTRK1__.			[Pan-TKR inhibitor]	[]	Responsive	Early trials		PMID:28183697;ASCO 2017 (LBA2501)	RDientsmann	07/17	CANCER		TRUE		Pan-TKR inhibitors	Any cancer type
NTRK1 fusion	NTRK1	FUS	NTRK1__.			[Pan-TK inhibitor]	[Entrectinib]	Responsive	Case report		PMID:26546295	RDientsmann	11/15	COREAD		TRUE		Pan-TK inhibitors (Entrectinib,etc)	Colorectal adenocarcinoma
NTRK1 fusion	NTRK1	FUS	NTRK1__.			ALK inhibitor	Crizotinib	Responsive	Case report		ASCO 2013 (abstr 8023)	RDientsmann	01/16	LUAD		TRUE		Crizotinib (ALK inhibitor)	Lung adenocarcinoma
NTRK3 fusion	NTRK3	FUS	NTRK3__.			[IGF1R inhibitor]	[]	Responsive	Pre-clinical		PMID:21148487;PMID:23131561	RDientsmann		BRCA		TRUE		IGF1R inhibitors	Breast adenocarcinoma
NTRK3 fusion	NTRK3	FUS	NTRK3__.			[PI3K pathway inhibitor]	[]	Responsive	Pre-clinical		PMID:21148487;PMID:23131561	RDientsmann		BRCA		TRUE		PI3K pathway inhibitors	Breast adenocarcinoma
NTRK3 fusion	NTRK3	FUS	NTRK3__.			Pan-TK inhibitor	Midostaurin	Responsive	Pre-clinical		PMID:21148487;PMID:23131561	RDientsmann		BRCA		TRUE		Midostaurin (Pan-TK inhibitor)	Breast adenocarcinoma
PAK1 amplification	PAK1	CNA	PAK1:amp			[PAK inhibitor]	[]	Responsive	Pre-clinical		PMID:23535073	RDientsmann		CM		TRUE		PAK inhibitors	Cutaneous melanoma
PALB2 oncogenic mutation	PALB2	MUT	PALB2:.			[PARP inhibitor]	[]	Responsive	Early trials		AACR 2015 (abstr CT322);PMID:26510020	RDientsmann	01/16	PRAD		TRUE		PARP inhibitors	Prostate adenocarcinoma
PALB2 oncogenic mutation	PALB2	MUT	PALB2:.			[PARP inhibitor]	[]	Responsive	Pre-clinical		PMID:25263539;NCT01585805	RDientsmann	01/16	PA		TRUE		PARP inhibitors	Pancreas
PALB2 deletion	PALB2	CNA	PALB2:del			[PARP inhibitor]	[]	Responsive	Early trials		AACR 2015 (abstr CT322);PMID:26510020	RDientsmann	01/16	PRAD		TRUE		PARP inhibitors	Prostate adenocarcinoma
PALB2 deletion	PALB2	CNA	PALB2:del			[PARP inhibitor]	[]	Responsive	Pre-clinical		PMID:25263539;NCT01585805	RDientsmann	01/16	PA		TRUE		PARP inhibitors	Pancreas
PALB2 oncogenic mutation	PALB2	MUT	PALB2:.			Chemotherapy	Mytomycin C	Responsive	Case report		PMID:21135251	RDientsmann	01/16	PA		TRUE		Mytomycin C (Chemotherapy)	Pancreas
PALB2 deletion	PALB2	CNA	PALB2:del			Chemotherapy	Mytomycin C	Responsive	Case report		PMID:21135251	RDientsmann	01/16	PA		TRUE		Mytomycin C (Chemotherapy)	Pancreas
PALB2 oncogenic mutation	PALB2	MUT	PALB2:.			Chemotherapy	Platinum Agent	Responsive	Case report		PMID:25719666	RDientsmann	01/16	PA		TRUE		Platinum Agent (Chemotherapy)	Pancreas
PALB2 deletion	PALB2	CNA	PALB2:del			Chemotherapy	Platinum Agent	Responsive	Case report		PMID:25719666	RDientsmann	01/16	PA		TRUE		Platinum Agent (Chemotherapy)	Pancreas
PBRM1 oncogenic mutation	PBRM1	MUT	PBRM1:.			[EZH2 inhibitor]	[]	Responsive	Pre-clinical		PMID:26552009	RDientsmann	01/16	CANCER		TRUE		EZH2 inhibitors	Any cancer type
PBRM1 deletion	PBRM1	CNA	PBRM1:del			[EZH2 inhibitor]	[]	Responsive	Pre-clinical		PMID:26552009	RDientsmann	01/16	CANCER		TRUE		EZH2 inhibitors	Any cancer type
PBRM1 undexpression	PBRM1	EXPR	PBRM1:under		Approved	MTOR inhibitor	Everolimus	Responsive	Pre-clinical	Cell line	PMID:25997916	ARodriguez-Vida	09/15	R		TRUE		Everolimus (MTOR inhibitor)	Renal
PDGFRA (D842V)	PDGFRA	MUT	PDGFRA:D842V			[HSP90 inhibitor]	[]	Responsive	Pre-clinical		PMID:18794084	RDientsmann	01/16	GIST		TRUE		HSP90 inhibitors	Gastrointestinal stromal
FLT3 (D835,Y842)	FLT3	MUT	FLT3:D835.,Y842.			BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor	Ponatinib	Resistant	Pre-clinical		PMID:23430109	RDientsmann	01/16	AML		TRUE		Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)	Acute myeloid leukemia
PDGFRA (D842V)	PDGFRA	MUT	PDGFRA:D842V			FLT3 inhibitor	Crenolanib	Responsive	Early trials		ASCO 2016 (abstr 11010)	RDientsmann	12/16	GIST		TRUE		Crenolanib (FLT3 inhibitor)	Gastrointestinal stromal
PDGFRA (V658A,P577S,R841K,H845Y,G853D)	PDGFRA	MUT	PDGFRA:V658A,P577S,R841K,H845Y,G853D			FLT3 inhibitor	Crenolanib	Responsive	Pre-clinical		PMID:24132921	RDientsmann		CM		TRUE		Crenolanib (FLT3 inhibitor)	Cutaneous melanoma
PDGFRA wildtype	PDGFRA	MUT	PDGFRA::wildtype:.			BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Pre-clinical		PMID:16397263	RDientsmann	01/16	GIST		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Gastrointestinal stromal
PDGFRA (D842V)	PDGFRA	MUT	PDGFRA:D842V			BCR-ABL inhibitor 2nd gen	Dasatinib	Responsive	Pre-clinical		PMID:18794084	RDientsmann	01/16	GIST		TRUE		Dasatinib (BCR-ABL inhibitor 2nd gen)	Gastrointestinal stromal
PDGFRA fusion	PDGFRA	FUS	PDGFRA__.		Approved	BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Responsive	FDA guidelines		EMA	CRubio-Perez;DTamborero;RDientsmann		MDS;MDPS		TRUE	http://www.ema.europa.eu/docs/es_ES/document_library/EPAR_-_Product_Information/human/000406/WC500022207.pdf	Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Myelodisplasic syndrome;Myelodisplasic proliferative syndrome
PDGFRA-FIP1L1 fusion	PDGFRA	FUS	PDGFRA__FIP1L1		Approved	BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Responsive	FDA guidelines		EMA	CRubio-Perez;DTamborero;RDientsmann		HES;ECL		TRUE	http://www.ema.europa.eu/docs/es_ES/document_library/EPAR_-_Product_Information/human/000406/WC500022207.pdf	Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Hyper eosinophilic advanced snydrome;Eosinophilic chronic leukemia
PDGFRA inframe deletion (I843)	PDGFRA	MUT	PDGFRA::consequence::inframe_deletion:I843.		Approved	BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Responsive	NCCN guidelines		NCCN guidelines	RDientsmann		GIST		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Gastrointestinal stromal
RET (I788N)	RET	MUT	RET:I788N			BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor	Ponatinib	Resistant	Pre-clinical		PMID:28615362	RDientsmann	07/17	LUAD		TRUE		Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)	Lung adenocarcinoma
PDGFRA (552-596,631-668,814-854)	PDGFRA	MUT	PDGFRA:552-596,631-668,814-854		Approved	BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Responsive	NCCN guidelines		NCCN guidelines	RDientsmann		GIST		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Gastrointestinal stromal
FLT3 (F691,D835,N676,Y842)	FLT3	MUT	FLT3:F691.,D835.,N676.,Y842.			Pan-TK inhibitor	Quizartinib	Resistant	Pre-clinical		PMID:22504184;PMID:23878140	RDientsmann		AML		TRUE		Quizartinib (Pan-TK inhibitor)	Acute myeloid leukemia
PDGFRA (P577S,R841K,H845Y,G853D)	PDGFRA	MUT	PDGFRA:P577S,R841K,H845Y,G853D			BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Responsive	Pre-clinical		PMID:24132921	RDientsmann		CM		TRUE		Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Cutaneous melanoma
EGFR (T790M)	EGFR	MUT	EGFR:T790M			EGFR inhibitor 1st gen	Erlotinib	Resistant	NCCN/CAP guidelines		NCCN	RDientsmann	01/16	L		TRUE		Erlotinib (EGFR inhibitor 1st gen)	Lung
PDGFRA (552-596,631-668,814-854)	PDGFRA	MUT	PDGFRA:552-596,631-668,814-854		Approved	Pan-kinase inhibitor	Regorafenib	Responsive	NCCN guidelines		NCCN guidelines	RDientsmann		GIST		TRUE	Mutation exon 12,14,18	Regorafenib (Pan-kinase inhibitor)	Gastrointestinal stromal
PDGFRA wildtype	PDGFRA	MUT	PDGFRA::wildtype:.			Pan-TK inhibitor	Sorafenib	Responsive	Early trials		ASCO 2011 (abstr 10009)	RDientsmann	01/16	GIST		TRUE		Sorafenib (Pan-TK inhibitor)	Gastrointestinal stromal
PDGFRA wildtype	PDGFRA	MUT	PDGFRA::wildtype:.			Pan-TK inhibitor	Sunitinib	Responsive	Late trials		PMID:18955458	RDientsmann	01/16	GIST		TRUE		Sunitinib (Pan-TK inhibitor)	Gastrointestinal stromal
PDGFRA (552-596,631-668,814-854)	PDGFRA	MUT	PDGFRA:552-596,631-668,814-854		Approved	Pan-TK inhibitor	Sunitinib	Responsive	NCCN guidelines		NCCN guidelines	RDientsmann		GIST		TRUE	Mutation exon 12,14,18	Sunitinib (Pan-TK inhibitor)	Gastrointestinal stromal
EGFR (L798I)	EGFR	MUT	EGFR:L798I			EGFR inhibitor	Rociletinib	Resistant	Case report		PMID:27283993	RDientsmann	07/16	LUAD		TRUE		Rociletinib (EGFR inhibitor)	Lung adenocarcinoma
PDGFRA overexpression	PDGFRA	EXPR	PDGFRA:over	Direct	Approved	Pan-TK inhibitor	Sunitinib	Responsive	Pre-clinical	Cell line	PMID:24086736	ARodriguez-Vida	09/15	R		TRUE		Sunitinib (Pan-TK inhibitor)	Renal
PDGFB-COL1A1 fusion	PDGFB	FUS	PDGFB__COL1A1		Approved	BCR-ABL inhibitor 1st gen&KIT inhibitor	Imatinib	Responsive	FDA guidelines		FDA	CRubio-Perez;DTamborero;RDientsmann		DFS		TRUE	http://www.ema.europa.eu/docs/es_ES/document_library/EPAR_-_Product_Information/human/000406/WC500022207.pdf	Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Dermatofibrosarcoma
PDPK1 amplification	PDPK1	CNA	PDPK1:amp			[PI3K pathway inhibitor]	[]	Responsive	Pre-clinical		PMID:19602588	RDientsmann		BRCA		TRUE		PI3K pathway inhibitors	Breast adenocarcinoma
PIK3CA oncogenic mutation	PIK3CA	MUT	PIK3CA:.			[AKT inhibitor]	[]	Responsive	Early trials		ASCO 2015 (abstr 2500)	RDientsmann	01/16	BRCA		TRUE		AKT inhibitors	Breast adenocarcinoma
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			3rd generation EGFR inhibitor	Rociletinib	Resistant	Case report		PMID:27252416	EArriola	06/16	LUAD		TRUE		Rociletinib (3rd generation EGFR inhibitor)	Lung adenocarcinoma
PIK3CA oncogenic mutation	PIK3CA	MUT	PIK3CA:.			[PI3K pathway inhibitor (alone or in combination)]	[]	Responsive	Pre-clinical		PMID:23136191;PMID:23475782;PMID:22392911	RDientsmann	01/16	L;COREAD		TRUE		PI3K pathway inhibitor (alone or in combination)s	Lung;Colorectal adenocarcinoma
PIK3CA oncogenic mutation	PIK3CA	MUT	PIK3CA:.			[PI3K pathway inhibitor]	[]	Responsive	Case report		ASCO 2015 (abstr 2516);ASCO 2015 (abstr 6049);ESMO 2013 (abstr P017)	RDientsmann	01/16	BLCA;HNC;L		TRUE		PI3K pathway inhibitors	Bladder;Head an neck;Lung
PIK3CA oncogenic mutation	PIK3CA	MUT	PIK3CA:.			[PI3K pathway inhibitor]	[]	Responsive	Early trials		PMID:22271473;PMID:27672108;AACR 2013 (abstr LB-66);PMID:25231405;ASCO 2013 (abstr 2531);ASCO 2014 (abstr 5513)	RDientsmann	01/16	BRCA;OV;CESC;ED		TRUE		PI3K pathway inhibitors	Breast adenocarcinoma;Ovary;Cervix squamous cell;Endometrium
PIK3CA oncogenic mutation	PIK3CA	MUT	PIK3CA:.			[PI3K pathway inhibitor]	[]	Responsive	Case report		PMID:26787751;PMID:26763254	RDientsmann	07/16	HNSC		TRUE		PI3K pathway inhibitors	Head an neck squamous
PIK3CA oncogenic mutation	PIK3CA	MUT	PIK3CA:.			[PI3K pathway inhibitor]	[]	Responsive	Pre-clinical		PMID:19671762;PMID:21289267	RDientsmann		G;THCA		TRUE		PI3K pathway inhibitors	Glioma;Thyroid carcinoma
MET amplification	MET	CNA	MET:amp			[EGFR inhibitor 3rd gen]	Rociletinib	Resistant	Case report		PMID:27252416	EArriola	06/16	LUAD		TRUE		EGFR inhibitor 3rd gens (Rociletinib,etc)	Lung adenocarcinoma
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			Pan-TK inhibitor;MEK inhibitor	Sorafenib;MEK inhibitor	Responsive	Early Trials,Case Report		PMID:25294897	RDientsmann	01/16	HC		TRUE		Sorafenib + MEK inhibitor (Pan-TK inhibitor + MEK inhibitor)	Hepatic carcinoma
PIK3CA oncogenic mutation	PIK3CA	MUT	PIK3CA:.			[PIK3CA inhibitor]	[]	Responsive	Early trials		PMID:28331003	RDientsmann	07/17	BRCA		TRUE		PIK3CA inhibitors	Breast adenocarcinoma
PIK3CA oncogenic mutation	PIK3CA	MUT	PIK3CA:.			[PIK3CA inhibitor]	[]	Responsive	Case report		ASCO 2015 (abstr 2501)	RDientsmann	01/16	ST		TRUE		PIK3CA inhibitors	Stomach
NF1 oncogenic mutation + BRAF oncogenic mutation	NF1;BRAF	MUT;MUT	NF1:.;BRAF:.			MEK inhibitor	Selumetinib	Resistant	Case report		PMID:23444215	RDientsmann	07/16	CM		TRUE		Selumetinib (MEK inhibitor)	Cutaneous melanoma
PIK3CA oncogenic mutation + ERBB2 amplification	PIK3CA;ERBB2	MUT;CNA	PIK3CA:.;ERBB2:amp			MTOR inhibitor;ERBB2 mAb inhibitor;Chemotherapy	Everolimus;Trastuzumab;Chemotherapy	Responsive	Late trials		PMID:27091708	RDientsmann	01/16	BRCA		TRUE		Everolimus + Trastuzumab + Chemotherapy (MTOR inhibitor + ERBB2 mAb inhibitor + Chemotherapy)	Breast adenocarcinoma
PIK3CB oncogenic mutation	PIK3CB	MUT	PIK3CB:.			[AKT inhibitor]	[]	Responsive	Pre-clinical		PMID:23619167	RDientsmann	04/16	HNSC		TRUE		AKT inhibitors	Head an neck squamous
PIK3CB (D1067Y)	PIK3CB	MUT	PIK3CB:D1067Y			[AKT inhibitor]	[]	Responsive	Pre-clinical		PMID:26759240	RDientsmann	04/16	BRCA		TRUE		AKT inhibitors	Breast adenocarcinoma
PIK3CB oncogenic mutation	PIK3CB	MUT	PIK3CB:.			[MTORC1/2 inhibitor]	[]	Responsive	Pre-clinical		PMID:23619167	RDientsmann	04/16	HNSC		TRUE		MTORC1/2 inhibitors	Head an neck squamous
PIK3CB (D1067Y)	PIK3CB	MUT	PIK3CB:D1067Y			[MTORC1/2 inhibitor]	[]	Responsive	Pre-clinical		PMID:26759240	RDientsmann	04/16	BRCA		TRUE		MTORC1/2 inhibitors	Breast adenocarcinoma
PIK3CB oncogenic mutation	PIK3CB	MUT	PIK3CB:.			[PI3K pathway inhibitor]	[]	Responsive	Pre-clinical		PMID:23619167	RDientsmann		HNSC		TRUE		PI3K pathway inhibitors	Head an neck squamous
NF1 deletion + BRAF oncogenic mutation	NF1;BRAF	CNA;MUT	NF1:del;BRAF:.			MEK inhibitor	Selumetinib	Resistant	Case report		PMID:23444215	RDientsmann	07/16	CM		TRUE		Selumetinib (MEK inhibitor)	Cutaneous melanoma
PIK3R1 oncogenic mutation	PIK3R1	MUT	PIK3R1:.			[AKT inhibitor]	[]	Responsive	Pre-clinical		PMID:23166678	RDientsmann		G		TRUE		AKT inhibitors	Glioma
PIK3R1 oncogenic mutation	PIK3R1	MUT	PIK3R1:.			[PI3K pathway inhibitor]	[]	Responsive	Case report		ASCO 2015 (abstr 11075)	RDientsmann	01/16	ED		TRUE		PI3K pathway inhibitors	Endometrium
PIK3R2 (A171V,N561D)	PIK3R2	MUT	PIK3R2:A171V,N561D			[MTOR inhibitor]	[]	Responsive	Pre-clinical		PMID:21984976;PMID:19962665	RDientsmann		ED		TRUE		MTOR inhibitors	Endometrium
PML-RARA fusion	PML	FUS	PML__RARA		Approved	Retinoid	Tretinoin	Responsive	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	APML		TRUE		Tretinoin (Retinoid)	Acute promyelocytic leukemia
PML-RARA fusion	PML	FUS	PML__RARA		Approved	Retinoid;Chemotherapy	Tretinoin;Arsenic Trioxide	Responsive	FDA guidelines		FDA	RDientsmann		AML		TRUE		Tretinoin + Arsenic Trioxide (Retinoid + Chemotherapy)	Acute myeloid leukemia
PML-RARA fusion	PML	FUS	PML__RARA	Indirect	Clinical Trials	PLK1 inhibitor	Volasertib	Responsive	Early trials		NCT02198482;NCT01662505	ECampo		AML		TRUE		Volasertib (PLK1 inhibitor)	Acute myeloid leukemia
POLE (268-471)	POLE	MUT	POLE:268-471			[PD1 Ab inhibitor]	[]	Responsive	Case report		PMID:27001570;PMID:27683556;PMID:27159395	RDientsmann	06/16	G;ED		TRUE	Mutations in exonuclease domain. Domain coordinates from (PMID:23528559)	PD1 Ab inhibitors	Glioma;Endometrium
POLE oncogenic mutation	POLE	MUT	POLE:.			[PD1 Ab inhibitor]	[]	Responsive	Case report		PMID:28188185	RDientsmann	07/17	COREAD		TRUE		PD1 Ab inhibitors	Colorectal adenocarcinoma
PRKCH amplification + ABL1-BCR fusion	PRKCH;ABL1	CNA;FUS	PRKCH:amp;ABL1__BCR			MEK inhibitor;BCR-ABL inhibitor 1st gen&KIT inhibitor	Trametinib;Imatinib	Responsive	Pre-clinical		PMID:25186176	RDientsmann		CML		TRUE		Trametinib + Imatinib (MEK inhibitor + BCR-ABL inhibitor 1st gen&KIT inhibitor)	Chronic myeloid leukemia
PTCH1 oncogenic mutation	PTCH1	MUT	PTCH1:.		Approved	[SMO inhibitor]	[]	Responsive	Pre-clinical		PMID:24651015	DTamborero;RDientsmann	10/16	MB		TRUE		SMO inhibitors	Medulloblastoma
PTCH1 oncogenic mutation	PTCH1	MUT	PTCH1:.			MET inhibitor	Foretinib	Responsive	Pre-clinical		PMID:25391241	RDientsmann	01/16	MB		TRUE		Foretinib (MET inhibitor)	Medulloblastoma
PTCH1 oncogenic mutation	PTCH1	MUT	PTCH1:.		Approved	SHH inhibitor	Vismodegib	Responsive	FDA guidelines		PMID:19726763;PMID:19726761	RDientsmann		BCC;MB		TRUE		Vismodegib (SHH inhibitor)	Basal cell carcinoma;Medulloblastoma
PTEN oncogenic mutation	PTEN	MUT	PTEN:.			[AKT inhibitor]	[]	Responsive	Case report		PMID:22025163	RDientsmann	01/16	PA		TRUE		AKT inhibitors	Pancreas
PTEN deletion	PTEN	CNA	PTEN:del			[AKT inhibitor]	[]	Responsive	Case report		PMID:22025163	RDientsmann	01/16	PA		TRUE		AKT inhibitors	Pancreas
PTEN oncogenic mutation	PTEN	MUT	PTEN:.			[ATM inhibitor]	[]	Responsive	Pre-clinical		PMID:27397505	RDientsmann	07/16	BRCA		TRUE		ATM inhibitors	Breast adenocarcinoma
PTEN oncogenic mutation	PTEN	MUT	PTEN:.			[PARP inhibitor]	[]	Responsive	Case report		PMID:21468130;PMID:20944090	RDientsmann		ED		TRUE	(low estrogen)	PARP inhibitors	Endometrium
PTEN deletion	PTEN	CNA	PTEN:del			[PARP inhibitor]	[]	Responsive	Case report		PMID:21468130;PMID:20944090	RDientsmann		ED		TRUE	(low estrogen)	PARP inhibitors	Endometrium
PTEN oncogenic mutation	PTEN	MUT	PTEN:.			[PD1 Ab inhibitor]	[]	Responsive	Early trials		PMID:26645196	RDientsmann	06/16	CM		TRUE		PD1 Ab inhibitors	Cutaneous melanoma
PTEN deletion	PTEN	CNA	PTEN:del			[PD1 Ab inhibitor]	[]	Responsive	Early trials		PMID:26645196	RDientsmann	06/16	CM		TRUE		PD1 Ab inhibitors	Cutaneous melanoma
PTEN oncogenic mutation	PTEN	MUT	PTEN:.			[PI3K pathway inhibitor;AR antagonist]	[]	Responsive	Pre-clinical		PMID:21575859	RDientsmann	01/16	PRAD		TRUE		PI3K pathway inhibitor + AR antagonists	Prostate adenocarcinoma
PTEN deletion	PTEN	CNA	PTEN:del			[PI3K pathway inhibitor;AR antagonist]	[]	Responsive	Pre-clinical		PMID:21575859	RDientsmann	01/16	PRAD		TRUE		PI3K pathway inhibitor + AR antagonists	Prostate adenocarcinoma
PTEN oncogenic mutation	PTEN	MUT	PTEN:.			[PI3K pathway inhibitor;MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:21632463	RDientsmann	01/16	OV		TRUE		PI3K pathway inhibitor + MEK inhibitors	Ovary
PTEN deletion	PTEN	CNA	PTEN:del			[PI3K pathway inhibitor;MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:21632463	RDientsmann	01/16	OV		TRUE		PI3K pathway inhibitor + MEK inhibitors	Ovary
PTEN oncogenic mutation	PTEN	MUT	PTEN:.			[PI3K pathway inhibitor]	[]	Responsive	Pre-clinical		PMID:21289267;PMID:21325073;PMID:21191045;PMID:17804702;PMID:23136191;PMID:21632463;PMID:21673091;PMID:23287563;PMID:21998291;PMID:22662154;PMID:23085766;PMID:22932669	RDientsmann	01/16	TH;G;L;OV;BRCA;CANCER;ED		TRUE		PI3K pathway inhibitors	Thyroid;Glioma;Lung;Ovary;Breast adenocarcinoma;Any cancer type;Endometrium
PTEN deletion	PTEN	CNA	PTEN:del			[PI3K pathway inhibitor]	[]	Responsive	Pre-clinical		PMID:21289267;PMID:21325073;PMID:21191045;PMID:17804702;PMID:23136191;PMID:21632463;PMID:21673091;PMID:23287563;PMID:21998291;PMID:22662154;PMID:23085766;PMID:22932669	RDientsmann	01/16	TH;G;L;OV;BRCA;CANCER;ED		TRUE		PI3K pathway inhibitors	Thyroid;Glioma;Lung;Ovary;Breast adenocarcinoma;Any cancer type;Endometrium
PTEN oncogenic mutation	PTEN	MUT	PTEN:.			[PIK3CB inhibitor]	[]	Responsive	Case report		ASCO 2014 (abstr 2514)	RDientsmann	01/16	PRAD		TRUE		PIK3CB inhibitors	Prostate adenocarcinoma
PTEN deletion	PTEN	CNA	PTEN:del			[PIK3CB inhibitor]	[]	Responsive	Case report		ASCO 2014 (abstr 2514)	RDientsmann	01/16	PRAD		TRUE		PIK3CB inhibitors	Prostate adenocarcinoma
KIT mutation in exon 11	KIT	MUT	KIT:550-592			Pan-TK inhibitor	Sunitinib	Resistant	Late trials		PMID:18955458	RDientsmann	01/16	GIST		TRUE		Sunitinib (Pan-TK inhibitor)	Gastrointestinal stromal
PTEN oncogenic mutation	PTEN	MUT	PTEN:.			MTOR inhibitor	Everolimus	Responsive	Early trials		PMID:23582881	RDientsmann	01/16	PRAD		TRUE		Everolimus (MTOR inhibitor)	Prostate adenocarcinoma
PTEN deletion	PTEN	CNA	PTEN:del			MTOR inhibitor	Everolimus	Responsive	Early trials		PMID:23582881	RDientsmann	01/16	PRAD		TRUE		Everolimus (MTOR inhibitor)	Prostate adenocarcinoma
KIT mutation in exon 17	KIT	MUT	KIT:788-828			Pan-TK inhibitor	Sunitinib	Resistant	Pre-clinical		PMID:23840364	RDientsmann	01/16	GIST		TRUE		Sunitinib (Pan-TK inhibitor)	Gastrointestinal stromal
PTEN oncogenic mutation	PTEN	MUT	PTEN:.			MTOR inhibitor	Sirolimus	Responsive	Early trials		ASCO 2013 (abstr 2532)	RDientsmann	01/16	CANCER		TRUE		Sirolimus (MTOR inhibitor)	Any cancer type
PTEN deletion	PTEN	CNA	PTEN:del			MTOR inhibitor	Sirolimus	Responsive	Early trials		ASCO 2013 (abstr 2532)	RDientsmann	01/16	CANCER		TRUE		Sirolimus (MTOR inhibitor)	Any cancer type
KIT amplification	KIT	CNA	KIT:amp			Pan-TK inhibitor	Sunitinib	No Responsive	Early trials		PMID:22261812	RDientsmann	01/16	CM		TRUE		Sunitinib (Pan-TK inhibitor)	Cutaneous melanoma
PDGFRA (D842V)	PDGFRA	MUT	PDGFRA:D842V			Pan-TK inhibitor	Sunitinib	Resistant	Late trials,Pre-clinical		PMID:22718859;PMID:16638875	RDientsmann	01/16	GIST		TRUE		Sunitinib (Pan-TK inhibitor)	Gastrointestinal stromal
ESR1 (E380Q,537,538,L536,P535H)	ESR1	MUT	ESR1:E380Q,.537.,.538.,L536.,P535H			Hormonal therapy	Tamoxifen	Resistant	Early trials		PMID:24185512;PMID:24185510;PMID:24398047	RDientsmann		BRCA		TRUE		Tamoxifen (Hormonal therapy)	Breast adenocarcinoma
NF1 oncogenic mutation	NF1	MUT	NF1:.			Farnesyltransferase inhibitor	Tipifarnib	No Responsive	Early trials		PMID:24500418	RDientsmann	07/16	PLEN		TRUE	germline	Tipifarnib (Farnesyltransferase inhibitor)	Plexiform neurofibroma
PTEN oncogenic mutation + ERBB2 amplification	PTEN;ERBB2	MUT;CNA	PTEN:.;ERBB2:amp			MTOR inhibitor;ERBB2 mAb inhibitor;Chemotherapy	Everolimus;Trastuzumab;Chemotherapy	Responsive	Late trials		PMID:27091708	RDientsmann	01/16	BRCA		TRUE		Everolimus + Trastuzumab + Chemotherapy (MTOR inhibitor + ERBB2 mAb inhibitor + Chemotherapy)	Breast adenocarcinoma
PTPRD oncogenic mutation	PTPRD	MUT	PTPRD:.			[IGF1R inhibitor]	[]	Responsive	Case report		PMID:23800680	RDientsmann	12/16	S		TRUE		IGF1R inhibitors	Sarcoma
NF1 deletion	NF1	CNA	NF1:del			Farnesyltransferase inhibitor	Tipifarnib	No Responsive	Early trials		PMID:24500418	RDientsmann	07/16	PLEN		TRUE	germline	Tipifarnib (Farnesyltransferase inhibitor)	Plexiform neurofibroma
NF1 oncogenic mutation	NF1	MUT	NF1:.			MEK inhibitor	Trametinib	No Responsive	Case report		PMID:26325560	RDientsmann	07/16	OS		TRUE		Trametinib (MEK inhibitor)	Osteosarcoma
RAD50 (L1237F) + ATM deletion	RAD50;ATM	MUT;CNA	RAD50:L1237F;ATM:del			TOPO1 inhibitor;CHK1/2 inhibitor	Irinotecan;CHK1/2 inhibitor	Responsive	Case report		PMID:24934408	RDientsmann	01/16	CANCER		TRUE		Irinotecan + CHK1/2 inhibitor (TOPO1 inhibitor + CHK1/2 inhibitor)	Any cancer type
RAD51C oncogenic mutation	RAD51C	MUT	RAD51C:.			[PARP inhibitor]	[]	Responsive	Early trials		ASCO 2015 (abstr 5508)	RDientsmann	01/16	OV		TRUE		PARP inhibitors	Ovary
RAD51C oncogenic mutation	RAD51C	MUT	RAD51C:.			[PARP inhibitor]	[]	Responsive	Early trials		ASCO 2015 (abstr 5508)	RDientsmann	04/16	OV		TRUE		PARP inhibitors	Ovary
RAF1 fusion	RAF1	FUS	RAF1__.	Direct	Pre-clinical	[Pan-RAF inhibitor]	[]	Responsive	Pre-clinical	Cell line	PMID:20526349	ARodriguez-Vida	09/15	PRAD		TRUE		Pan-RAF inhibitors	Prostate adenocarcinoma
RAF1 fusion	RAF1	FUS	RAF1__.			Pan-TK inhibitor	Sorafenib	Responsive	Pre-clinical		PMID:20526349	RDientsmann		PRAD		TRUE		Sorafenib (Pan-TK inhibitor)	Prostate adenocarcinoma
RAF1 overexpression	RAF1	EXPR	RAF1:over			Pan-TK inhibitor	Sorafenib	Responsive	Pre-clinical	Cell line	PMID:24375110	CdeTorres	10/16	OS		TRUE		Sorafenib (Pan-TK inhibitor)	Osteosarcoma
RAF1 fusion	RAF1	FUS	RAF1__.	Indirect	Approved	MEK inhibitor	U0126	Responsive	Pre-clinical	Cell line	PMID:20526349	ARodriguez-Vida	09/15	PRAD		TRUE		U0126 (MEK inhibitor)	Prostate adenocarcinoma
NF1 deletion	NF1	CNA	NF1:del			MEK inhibitor	Trametinib	No Responsive	Case report		PMID:26325560	RDientsmann	07/16	OS		TRUE		Trametinib (MEK inhibitor)	Osteosarcoma
RB1 oncogenic mutation	RB1	MUT	RB1:.			[HDAC inhibitor]	[]	Responsive	Pre-clinical		PMID:18483379	RDientsmann	01/16	RB		TRUE		HDAC inhibitors	Retinoblastoma
RB1 deletion	RB1	CNA	RB1:del			[HDAC inhibitor]	[]	Responsive	Pre-clinical		PMID:18483379	RDientsmann	01/16	RB		TRUE		HDAC inhibitors	Retinoblastoma
RB1 oncogenic mutation	RB1	MUT	RB1:.			[MDM2/MDMX inhibitor]	[]	Responsive	Pre-clinical		PMID:17080083;PMID:21515735	RDientsmann		RB		TRUE		MDM2/MDMX inhibitors	Retinoblastoma
RB1 deletion	RB1	CNA	RB1:del			[MDM2/MDMX inhibitor]	[]	Responsive	Pre-clinical		PMID:17080083;PMID:21515735	RDientsmann		RB		TRUE		MDM2/MDMX inhibitors	Retinoblastoma
RB1 oncogenic mutation	RB1	MUT	RB1:.	Indirect	Approved	Chemotherapy	Cisplatin	Responsive	Early trials		PMID:26238431	ARodriguez-Vida;RDientsmann		BLCA	BLCA	TRUE		Cisplatin (Chemotherapy)	Bladder
RB1 deletion	RB1	CNA	RB1:del	Indirect	Approved	Chemotherapy	Cisplatin	Responsive	Early trials		PMID:26238431	ARodriguez-Vida;RDientsmann		BLCA	BLCA	TRUE		Cisplatin (Chemotherapy)	Bladder
RB1 overexpression	RB1	EXPR	RB1:over	Indirect	Pre-clinical	CDK4/6 inhibitor	Palbociclib	Responsive	Pre-clinical	Xenograft	PMID:23708653	ARodriguez-Vida	09/15	PRAD		TRUE		Palbociclib (CDK4/6 inhibitor)	Prostate adenocarcinoma
RET fusion	RET	FUS	RET__.			[RET inhibitor]	[]	Responsive	Pre-clinical		PMID:22327624;PMID:22327622	RDientsmann	01/16	LUAD		TRUE		RET inhibitors	Lung adenocarcinoma
RET-TPCN1 fusion	RET	FUS	RET__TPCN1			[RET inhibitor]	[]	Responsive	Pre-clinical		PMID:23056499	RDientsmann	01/16	TH		TRUE		RET inhibitors	Thyroid
RET (C634W,M918T)	RET	MUT	RET:C634W,M918T			[RET inhibitor]	[]	Responsive	Pre-clinical		PMID:23056499	RDientsmann	01/16	TH		TRUE		RET inhibitors	Thyroid
RET fusion	RET	FUS	RET__.			Pan-kinase inhibitor	Cabozantinib	Responsive	Early trials		PMID:28447912	RDientsmann	07/17	LUAD		TRUE		Cabozantinib (Pan-kinase inhibitor)	Lung adenocarcinoma
RET-TPCN1 fusion	RET	FUS	RET__TPCN1			Pan-kinase inhibitor	Cabozantinib	Responsive	Pre-clinical		PMID:21470995	RDientsmann		THCA		TRUE		Cabozantinib (Pan-kinase inhibitor)	Thyroid carcinoma
RET (C634W,M918T)	RET	MUT	RET:C634W,M918T			Pan-kinase inhibitor	Cabozantinib	Responsive	Pre-clinical		PMID:21470995	RDientsmann	01/16	TH		TRUE		Cabozantinib (Pan-kinase inhibitor)	Thyroid
RET fusion	RET	FUS	RET__.			Pan-TK inhibitor	Nintedanib	Responsive	Case report		PMID:26787234	RDientsmann	06/16	LUAD		TRUE		Nintedanib (Pan-TK inhibitor)	Lung adenocarcinoma
ARID1A oncogenic mutation + ANXA1 overexpression	ARID1A;ANXA1	MUT;EXPR	ARID1A:.;ANXA1:over		FDA approved	ERBB2 mAb inhibitor	Trastuzumab	Resistant	Early trials		PMID:27172896	RDientsmann	12/16	BRCA		TRUE	Anaxa 1 high	Trastuzumab (ERBB2 mAb inhibitor)	Breast adenocarcinoma
RET fusion	RET	FUS	RET__.			Pan-TK inhibitor	Sunitinib	Responsive	Early trials		PMID:28447912	RDientsmann	07/17	LUAD		TRUE		Sunitinib (Pan-TK inhibitor)	Lung adenocarcinoma
RET-TPCN1 fusion	RET	FUS	RET__TPCN1			Pan-TK inhibitor	Sunitinib	Responsive	Pre-clinical		PMID:21470995	RDientsmann		THCA		TRUE		Sunitinib (Pan-TK inhibitor)	Thyroid carcinoma
RET (C634W,M918T)	RET	MUT	RET:C634W,M918T			Pan-TK inhibitor	Sunitinib	Responsive	Pre-clinical		PMID:21470995	RDientsmann	01/16	TH		TRUE		Sunitinib (Pan-TK inhibitor)	Thyroid
RET fusion	RET	FUS	RET__.			Pan-TK inhibitor	Vandetanib	Responsive	Early trials		PMID:28447912	RDientsmann	07/17	LUAD		TRUE		Vandetanib (Pan-TK inhibitor)	Lung adenocarcinoma
RET-TPCN1 fusion	RET	FUS	RET__TPCN1			Pan-TK inhibitor	Vandetanib	Responsive	Pre-clinical		PMID:21470995	RDientsmann		THCA		TRUE		Vandetanib (Pan-TK inhibitor)	Thyroid carcinoma
RET (618,620,634,768,791,891,918,C634W,M918T)	RET	MUT	RET:.618.,.620.,.634.,.768.,.791.,.891.,.918.,C634W,M918T		Approved	Pan-TK inhibitor	Vandetanib	Responsive	FDA guidelines		PMID:20065189;PMID:22025146	RDientsmann		THCA		TRUE		Vandetanib (Pan-TK inhibitor)	Thyroid carcinoma
RICTOR amplification	RICTOR	CNA	RICTOR:amp			[MTORC1/2 inhibitor]	[]	Responsive	Case report		PMID:26370156	RDientsmann	01/16	L		TRUE		MTORC1/2 inhibitors	Lung
RNF43 oncogenic mutation	RNF43	MUT	RNF43:.			[Porcupine inhibitor]	[]	Responsive	Case report		ENA 2015 (abstr C45)	RDientsmann	11/15	COREAD		TRUE		Porcupine inhibitors	Colorectal adenocarcinoma
ROS1 fusion	ROS1	FUS	ROS1__.			[HSP90 inhibitor]	[]	Responsive	Pre-clinical		PMID:23533265	RDientsmann	01/16	LUAD		TRUE		HSP90 inhibitors	Lung adenocarcinoma
ROS1 fusion	ROS1	FUS	ROS1__.			Pan-kinase inhibitor	Cabozantinib	Responsive	Case report		PMID:27370605	RDientsmann	07/17	LUAD		TRUE		Cabozantinib (Pan-kinase inhibitor)	Lung adenocarcinoma
ROS1 (G2032R)	ROS1	MUT	ROS1:G2032R			Pan-kinase inhibitor	Cabozantinib	Responsive	Pre-clinical		PMID:25351743	RDientsmann	01/16	LUAD		TRUE		Cabozantinib (Pan-kinase inhibitor)	Lung adenocarcinoma
ARID1A amplification + ANXA1 overexpression	ARID1A;ANXA1	CNA;EXPR	ARID1A:amp;ANXA1:over		FDA approved	ERBB2 mAb inhibitor	Trastuzumab	Resistant	Early trials		PMID:27172896	RDientsmann	12/16	BRCA		TRUE	Anaxa 1 high	Trastuzumab (ERBB2 mAb inhibitor)	Breast adenocarcinoma
ROS1 fusion	ROS1	FUS	ROS1__.			ALK inhibitor	Crizotinib	Responsive	Case report		PMID:24875859	RDientsmann	01/16	IM		TRUE		Crizotinib (ALK inhibitor)	Inflammatory myofibroblastic
ROS1 fusion	ROS1	FUS	ROS1__.			ALK inhibitor	Crizotinib	Responsive	Early trials		PMID:25264305	RDientsmann	01/16	LUAD		TRUE		Crizotinib (ALK inhibitor)	Lung adenocarcinoma
ROS1 fusion	ROS1	FUS	ROS1__.		Clinical trials	ALK inhibitor	Crizotinib	Responsive	FDA guidelines		FDA	CRubio-Perez;EArriola		NSCLC		TRUE		Crizotinib (ALK inhibitor)	Non-small cell lung
ERBB2 amplification	ERBB2	CNA	ERBB2:amp			ERBB2 mAb inhibitor	Trastuzumab	No Responsive	Early trials		PMID:26099744;PMID:19840887	DTamborero;RDientsmann		ED		TRUE		Trastuzumab (ERBB2 mAb inhibitor)	Endometrium
HGF amplification + ERBB2 amplification	HGF;ERBB2	CNA;CNA	HGF:amp;ERBB2:amp			ERBB2 mAb inhibitor	Trastuzumab	Resistant	Early trials		PMID:22850551	RDientsmann;CRubio-Perez		BRCA		TRUE		Trastuzumab (ERBB2 mAb inhibitor)	Breast adenocarcinoma
ROS1 (S1986Y,S1986F)	ROS1	MUT	ROS1:S1986Y,S1986F			ALK&ROS1 inhibitor	Lorlatinib	Responsive	Case report		PMID:27401242	RDientsmann	07/17	LUAD		TRUE		Lorlatinib (ALK&ROS1 inhibitor)	Lung adenocarcinoma
SERPINB3 oncogenic mutation	SERPINB3	MUT	SERPINB3:.			[CTLA4 inhibitor]	[]	Responsive	Early trials		PMID:27668655	RDientsmann	12/16	CM		TRUE		CTLA4 inhibitors	Cutaneous melanoma
SETD2 oncogenic mutation	SETD2	MUT	SETD2:.			[WEE1 inhibitor]	[]	Responsive	Pre-clinical		ENA 2014 (abstr 211)	RDientsmann		CANCER		TRUE		WEE1 inhibitors	Any cancer type
SETD2 deletion	SETD2	CNA	SETD2:del			[WEE1 inhibitor]	[]	Responsive	Pre-clinical		ENA 2014 (abstr 211)	RDientsmann		CANCER		TRUE		WEE1 inhibitors	Any cancer type
SF3B1 (K700E,K666N)	SF3B1	MUT	SF3B1:K700E,K666N			[Spliceosome inhibitor]	[]	Responsive	Pre-clinical		ENA 2014 (abstr 456);ENA 2014 (abstr 575);PMID:25424858	RDientsmann		CANCER		TRUE		Spliceosome inhibitors	Any cancer type
SH2B3 oncogenic mutation	SH2B3	MUT	SH2B3:.			[JAK inhibitor]	[]	Responsive	Pre-clinical		PMID:20404132	RDientsmann		MDPS		TRUE		JAK inhibitors	Myelodisplasic proliferative syndrome
SH2B3 deletion	SH2B3	CNA	SH2B3:del			[JAK inhibitor]	[]	Responsive	Pre-clinical		PMID:20404132	RDientsmann		MDPS		TRUE		JAK inhibitors	Myelodisplasic proliferative syndrome
MET amplification + ERBB2 amplification	MET;ERBB2	CNA;CNA	MET:amp;ERBB2:amp			ERBB2 mAb inhibitor	Trastuzumab	Resistant	Early trials		PMID:22850551	RDientsmann	01/16	BRCA		TRUE		Trastuzumab (ERBB2 mAb inhibitor)	Breast adenocarcinoma
SLC44A4 overexpression	SLC44A4	EXPR	SLC44A4:over			[SLC44A4 inhibitor]	[]	Responsive	Pre-clinical		PMID:27550944	CRubio-Perez	02/17	PRAD;PAAD		TRUE		SLC44A4 inhibitors	Prostate adenocarcinoma;Pancreas adenocarcinoma
SMARCA1 oncogenic mutation	SMARCA1	MUT	SMARCA1:.			[EZH2 inhibitor]	[]	Responsive	Pre-clinical		PMID:26552009	RDientsmann	01/16	CANCER		TRUE		EZH2 inhibitors	Any cancer type
SMARCA4 oncogenic mutation	SMARCA4	MUT	SMARCA4:.			[EZH2 inhibitor]	[]	Responsive	Case report		ESMO 2015 (abstract 302)	RDientsmann	11/15	OV		TRUE		EZH2 inhibitors	Ovary
SMARCA4 deletion	SMARCA4	CNA	SMARCA4:del			[EZH2 inhibitor]	[]	Responsive	Case report		ESMO 2015 (abstract 302)	RDientsmann	11/15	OV		TRUE		EZH2 inhibitors	Ovary
SMARCB1 oncogenic mutation	SMARCB1	MUT	SMARCB1:.			[EZH2 inhibitor]	[]	Responsive	Case report		ENA 2014 (abstr 6LBA);ESMO 2015 (abstract 302)	RDientsmann	01/16	MRT		TRUE	INI1 gene symbol: SMARCB1	EZH2 inhibitors	Malignant rhabdoid tumor
SMARCB1 deletion	SMARCB1	CNA	SMARCB1:del			[EZH2 inhibitor]	[]	Responsive	Case report		ENA 2014 (abstr 6LBA);ESMO 2015 (abstract 302)	RDientsmann	01/16	MRT		TRUE	INI1 gene symbol: SMARCB1	EZH2 inhibitors	Malignant rhabdoid tumor
SMARCB1 deletion	SMARCB1	CNA	SMARCB1:del		Clinical Trials	[EZH2 inhibitor]	[]	Responsive	Early trials		ESMO 2015 (abstract 302)	RDientsmann	11/15	MRT		TRUE		EZH2 inhibitors	Malignant rhabdoid tumor
SMARCB1 oncogenic mutation	SMARCB1	MUT	SMARCB1:.			[HDAC inhibitor]	[]	Responsive	Pre-clinical		PMID:26920892	RDientsmann	07/16	MRT		TRUE		HDAC inhibitors	Malignant rhabdoid tumor
MET amplification + ERBB2 amplification	MET;ERBB2	CNA;CNA	MET:amp;ERBB2:amp			ERBB2 mAb inhibitor	Trastuzumab	Resistant	Early trials		PMID:22850551; PMID:26432108	RDientsmann	01/16	BRCA;ST		TRUE		Trastuzumab (ERBB2 mAb inhibitor)	Breast adenocarcinoma;Stomach
KRAS oncogenic mutation	KRAS	MUT	KRAS:.			MEK inhibitor;BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor	Trametinib;Ponatinib	Responsive	Pre-clinical		PMID:27338794	RDientsmann	07/16	LUAD		TRUE		Trametinib + Ponatinib (MEK inhibitor + BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)	Lung adenocarcinoma
SMO (P641A)	SMO	MUT	SMO:P641A			SHH inhibitor	Vismodegib	Responsive	Case report		ASCO 2017 (abstr 9062)	RDientsmann	07/17	L		TRUE		Vismodegib (SHH inhibitor)	Lung
SRSF2 oncogenic mutation	SRSF2	MUT	SRSF2:.			[Spliceosome inhibitor]	[]	Responsive	Pre-clinical		PMID:27135740	RDientsmann	06/16	AML		TRUE		Spliceosome inhibitors	Acute myeloid leukemia
STAG2 oncogenic mutation	STAG2	MUT	STAG2:.			[PARP inhibitor]	[]	Responsive	Pre-clinical		PMID:24356817	RDientsmann		G		TRUE		PARP inhibitors	Glioma
BRAF inframe deletion (L485),inframe deletion (P490)	BRAF	MUT	BRAF::consequence::inframe_deletion:L485.,::inframe_deletion:P490.		Approved	BRAF inhibitor	Vemurafenib	Resistant	Pre-clinical		PMID:26732095	RDientsmann	04/16	CANCER		TRUE		Vemurafenib (BRAF inhibitor)	Any cancer type
STK11 oncogenic mutation	STK11	MUT	STK11:.			[MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:19165201	RDientsmann		LUAD		TRUE		MEK inhibitors	Lung adenocarcinoma
STK11 deletion	STK11	CNA	STK11:del			[MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:19165201	RDientsmann		LUAD		TRUE		MEK inhibitors	Lung adenocarcinoma
STK11 oncogenic mutation	STK11	MUT	STK11:.			[MTOR inhibitor]	[]	Responsive	Pre-clinical		PMID:19541609	RDientsmann		CANCER		TRUE		MTOR inhibitors	Any cancer type
STK11 deletion	STK11	CNA	STK11:del			[MTOR inhibitor]	[]	Responsive	Pre-clinical		PMID:19541609	RDientsmann		CANCER		TRUE		MTOR inhibitors	Any cancer type
STK11 oncogenic mutation	STK11	MUT	STK11:.			[SRC inhibitor;PI3K/MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:20541700	RDientsmann	01/16	LUAD		TRUE		SRC inhibitor + PI3K/MEK inhibitors	Lung adenocarcinoma
STK11 deletion	STK11	CNA	STK11:del			[SRC inhibitor;PI3K/MEK inhibitor]	[]	Responsive	Pre-clinical		PMID:20541700	RDientsmann	01/16	LUAD		TRUE		SRC inhibitor + PI3K/MEK inhibitors	Lung adenocarcinoma
STK11 (D194E)	STK11	MUT	STK11:D194E			MTOR inhibitor	Everolimus	Responsive	Case report		PMID:21189378	RDientsmann	01/16	PA		TRUE		Everolimus (MTOR inhibitor)	Pancreas
STK11 oncogenic mutation	STK11	MUT	STK11:.			Anti-diabetic	Phenformin	Responsive	Pre-clinical		PMID:23352126	RDientsmann	01/16	LUAD		TRUE		Phenformin (Anti-diabetic)	Lung adenocarcinoma
STK11 deletion	STK11	CNA	STK11:del			Anti-diabetic	Phenformin	Responsive	Pre-clinical		PMID:23352126	RDientsmann	01/16	LUAD		TRUE		Phenformin (Anti-diabetic)	Lung adenocarcinoma
BRAF (V600)	BRAF	MUT	BRAF:V600.		Approved	BRAF inhibitor	Vemurafenib	No Responsive	Early trials		PMID:26287849	DTamborero		COREAD		TRUE		Vemurafenib (BRAF inhibitor)	Colorectal adenocarcinoma
MAP2K1 (E203K,Q56P,K57E)	MAP2K1	MUT	MAP2K1:E203K,Q56P,K57E			BRAF inhibitor	Vemurafenib	Resistant	Case report		PMID:23569304	RDientsmann		CM		TRUE		Vemurafenib (BRAF inhibitor)	Cutaneous melanoma
NF1 biallelic inactivation	NF1	BIA	NF1:.			BRAF inhibitor	Vemurafenib	Resistant	Pre-clinical		PMID:23171796	DTamborero		CM		TRUE		Vemurafenib (BRAF inhibitor)	Cutaneous melanoma
SUZ12 oncogenic mutation	SUZ12	MUT	SUZ12:.			[BET inhibitor]	[]	Responsive	Pre-clinical		PMID:25119042	RDientsmann		CANCER		TRUE		BET inhibitors	Any cancer type
SUZ12 deletion	SUZ12	CNA	SUZ12:del			[BET inhibitor]	[]	Responsive	Pre-clinical		PMID:25119042	RDientsmann		CANCER		TRUE		BET inhibitors	Any cancer type
SYK amplification	SYK	CNA	SYK:amp			[SYK inhibitor]	[]	Responsive	Pre-clinical		PMID:16409295;PMID:19549911	RDientsmann		MCL;CLL		TRUE		SYK inhibitors	Mantle cell lymphoma;Chronic lymphocytic leukemia
TERT promoters core	TERT	MUT	TERT::consequence::promoters_core:.			Macrocyclic analog	Eribulin	Responsive	Pre-clinical		PMID:25375122;https://academic.oup.com/neuro-oncology/article-abstract/18/suppl_4/iv50/2222864/P08-41-Development-of-a-novel-TERT-targeting?cited-by=yes&legid=neuonc;18/suppl_4/iv50-b	CRubio-Perez	02/17	GBM		TRUE		Eribulin (Macrocyclic analog)	Glioblastoma multiforme
TMPRSS2 fusion	TMPRSS2	FUS	TMPRSS2__.			[DNA-PKc inhibitor]	[]	Responsive	Pre-clinical		PMID:21575865	RDientsmann	01/16	PRAD		TRUE		DNA-PKc inhibitors	Prostate adenocarcinoma
TMPRSS2 fusion	TMPRSS2	FUS	TMPRSS2__.			[PARP inhibitor]	[]	Responsive	Pre-clinical		PMID:21575865	RDientsmann		PRAD		TRUE		PARP inhibitors	Prostate adenocarcinoma
TOP2A amplification	TOP2A	CNA	TOP2A:amp			Chemotherapy	Anthracyclines	Responsive	Late trials		PMID:22864769	RDientsmann	01/16	BRCA		TRUE		Anthracyclines (Chemotherapy)	Breast adenocarcinoma
TP53 wildtype	TP53	MUT	TP53::wildtype:.			[HDM2 inhibitor]	[]	Responsive	Early trials		AACR 2017 (abstr CT152)	RDientsmann	07/17	AML		TRUE		HDM2 inhibitors	Acute myeloid leukemia
TP53 (R248Q,R175H)	TP53	MUT	TP53:R248Q,R175H			[HSP90 inhibitor]	[]	Responsive	Pre-clinical		PMID:26009011	RDientsmann	04/16	CANCER		TRUE		HSP90 inhibitors	Any cancer type
TP53 (R248Q,R175H)	TP53	MUT	TP53:R248Q,R175H			[HSP90 inhibitor]	[]	Responsive	Pre-clinical		PMID:26009011	RDientsmann		CANCER		TRUE	REMAP:R172H changed to R175H it was not the human mutation	HSP90 inhibitors	Any cancer type
NF1 oncogenic mutation + BRAF oncogenic mutation	NF1;BRAF	MUT;MUT	NF1:.;BRAF:.			BRAF inhibitor	Vemurafenib	Resistant	Case report		PMID:23288408;PMID:231718	RDientsmann	07/16	CM		TRUE		Vemurafenib (BRAF inhibitor)	Cutaneous melanoma
TP53 oncogenic mutation	TP53	MUT	TP53:.			[WEE1 inhibitor]	[]	Responsive	Pre-clinical		PMID:25125259	RDientsmann		HNC		TRUE		WEE1 inhibitors	Head an neck
NF1 deletion + BRAF oncogenic mutation	NF1;BRAF	CNA;MUT	NF1:del;BRAF:.			BRAF inhibitor	Vemurafenib	Resistant	Case report		PMID:23288408;PMID:231718	RDientsmann	07/16	CM		TRUE		Vemurafenib (BRAF inhibitor)	Cutaneous melanoma
TP53 oncogenic mutation	TP53	MUT	TP53:.	Indirect	Clinical Trials	ATR inhibitor	AZD6738	Responsive	Early trials		NCT01955668;https://ash.confex.com/ash/2014/webprogram/Paper71027.html	ECampo		BCL		TRUE		AZD6738 (ATR inhibitor)	B cell lymphoma
TP53 deletion	TP53	CNA	TP53:del	Indirect	Clinical Trials	ATR inhibitor	AZD6738	Responsive	Early trials		NCT01955668;https://ash.confex.com/ash/2014/webprogram/Paper71027.html	ECampo		BCL		TRUE		AZD6738 (ATR inhibitor)	B cell lymphoma
NRAS oncogenic mutation	NRAS	MUT	NRAS:.			BRAF inhibitor	Vemurafenib	Resistant	Pre-clinical		PMID:20179705	DTamborero		CM		TRUE	there is also some report in real patients with resistance, but not clear association	Vemurafenib (BRAF inhibitor)	Cutaneous melanoma
TP53 oncogenic mutation	TP53	MUT	TP53:.			Chemotherapy	Decitabine	Responsive	Early trials		PMID:27959731	RDientsmann	12/16	AML;MDPS		TRUE		Decitabine (Chemotherapy)	Acute myeloid leukemia;Myelodisplasic proliferative syndrome
TP53 oncogenic mutation	TP53	MUT	TP53:.			Anthracycline antitumor antibiotic	Doxorubicin	Responsive	Pre-clinical		PMID:27397505	RDientsmann	07/16	BLCA		TRUE		Doxorubicin (Anthracycline antitumor antibiotic)	Bladder
TP53 oncogenic mutation	TP53	MUT	TP53:.			Chemotherapy	Gemcitabine	Responsive	Pre-clinical		PMID:27397505	RDientsmann	07/16	BLCA		TRUE		Gemcitabine (Chemotherapy)	Bladder
TP53 oncogenic mutation	TP53	MUT	TP53:.			Chemotherapy	Mitomycin C	Responsive	Pre-clinical		PMID:27397505	RDientsmann	07/16	BLCA		TRUE		Mitomycin C (Chemotherapy)	Bladder
TP53 oncogenic mutation	TP53	MUT	TP53:.	Indirect	Clinical Trials	[WEE1 inhibitor]	[]	Responsive	Early trials		PMID:27998224	KKarube;RDientsmann;DTamborero		OV		TRUE		WEE1 inhibitors	Ovary
TP53 oncogenic mutation	TP53	MUT	TP53:.			Amylin analogue	Pramlintide	Responsive	Pre-clinical		PMID:25409149	RDientsmann		THYM		TRUE		Pramlintide (Amylin analogue)	Thymic
TP53 deletion	TP53	CNA	TP53:del			Amylin analogue	Pramlintide	Responsive	Pre-clinical		PMID:25409149	RDientsmann		THYM		TRUE		Pramlintide (Amylin analogue)	Thymic
TPMT splice acceptor variant	TPMT	MUT	TPMT::consequence::splice_acceptor_variant:.		Approved	Chemotherapy	Cisplatin	Increased Toxicity (Ototoxicity)	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Cisplatin (Chemotherapy)	Any cancer type
TPMT biallelic inactivation	TPMT	BIA	TPMT:.		Approved	Chemotherapy	Cisplatin	Increased Toxicity (Ototoxicity)	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Cisplatin (Chemotherapy)	Any cancer type
TPMT (A80P,Y240C,A154T,A167G)	TPMT	MUT	TPMT:A80P,Y240C,A154T,A167G		Approved	Chemotherapy	Cisplatin	Increased Toxicity (Ototoxicity)	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Cisplatin (Chemotherapy)	Any cancer type
TPMT splice acceptor variant	TPMT	MUT	TPMT::consequence::splice_acceptor_variant:.		Approved	Purine analog	Mercaptopurine	Increased Toxicity (Myelosupression)	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Mercaptopurine (Purine analog)	Any cancer type
TPMT biallelic inactivation	TPMT	BIA	TPMT:.		Approved	Purine analog	Mercaptopurine	Increased Toxicity (Myelosupression)	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Mercaptopurine (Purine analog)	Any cancer type
TPMT (A80P,Y240C,A154T,A167G)	TPMT	MUT	TPMT:A80P,Y240C,A154T,A167G		Approved	Purine analog	Mercaptopurine	Increased Toxicity (Myelosupression)	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Mercaptopurine (Purine analog)	Any cancer type
TPMT splice acceptor variant	TPMT	MUT	TPMT::consequence::splice_acceptor_variant:.		Approved	Guanine analog	Thioguanine	Increased Toxicity (Myelosupression)	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Thioguanine (Guanine analog)	Any cancer type
TPMT biallelic inactivation	TPMT	BIA	TPMT:.		Approved	Guanine analog	Thioguanine	Increased Toxicity (Myelosupression)	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Thioguanine (Guanine analog)	Any cancer type
TPMT (A80P,Y240C,A154T,A167G)	TPMT	MUT	TPMT:A80P,Y240C,A154T,A167G		Approved	Guanine analog	Thioguanine	Increased Toxicity (Myelosupression)	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Thioguanine (Guanine analog)	Any cancer type
MET amplification + BRAF (V600E)	MET;BRAF	CNA;MUT	MET:amp;BRAF:V600E			BRAF inhibitor;EGFR mAb inhibitor	Vemurafenib;Panitumumab	Resistant	Case report		PMID:27325282	RDientsmann	12/16	COREAD		TRUE		Vemurafenib + Panitumumab (BRAF inhibitor + EGFR mAb inhibitor)	Colorectal adenocarcinoma
NTRK3 (G623R)	NTRK3	MUT	NTRK3:G623R			[novel TRK inhibitor]	[]	Responsive	Case report		PMID:28578312	RDientsmann	07/17	CANCER		TRUE		novel TRK inhibitors	Any cancer type
FLT3-ITD	FLT3	MUT	FLT3::consequence::inframe_variant:572-630			BCL2 inhibitor	Venetoclax	Resistant	Early trials		PMID:27520294	DTamborero;CRubio-Perez;SDemajo;RShadrina	10/16	AML		TRUE	ITD (codified as inframe) in Juxtamembrane domain	Venetoclax (BCL2 inhibitor)	Acute myeloid leukemia
TSC1 oncogenic mutation	TSC1	MUT	TSC1:.			[MTOR inhibitor]	[]	Responsive	Early trials		PMID:23312829;PMID:21525172;PMID:20048174	RDientsmann	01/16	RA		TRUE		MTOR inhibitors	Renal angiomyolipoma
TSC1 oncogenic mutation	TSC1	MUT	TSC1:.	Indirect	Approved	MTOR inhibitor	Everolimus	Responsive	Early trials		PMID:22923433	RDientsmann	01/16	BLCA		TRUE	TSC1 or TSC2 mutated	Everolimus (MTOR inhibitor)	Bladder
TSC1 oncogenic mutation	TSC1	MUT	TSC1:.			MTOR inhibitor	Everolimus	Responsive	Case report		PMID:24622468;PMID:26859683;ASCO 2015 (abstr 11010);ASCO 2015 (abstr 4519)	RDientsmann	01/16	R		TRUE		Everolimus (MTOR inhibitor)	Renal
TSC1 oncogenic mutation	TSC1	MUT	TSC1:.		Approved	MTOR inhibitor	Everolimus	Responsive	FDA guidelines		FDA	DTamborero	04/16	GCA		TRUE	Tuberous sclerosis complex in 80% of cases = mutations in TSC1 or TSC2	Everolimus (MTOR inhibitor)	Giant cell astrocytoma
TSC1 oncogenic mutation	TSC1	MUT	TSC1:.		Approved	MTOR inhibitor	Everolimus	Responsive	Case report		PMID:26859683	RDientsmann	06/16	S;ST		TRUE		Everolimus (MTOR inhibitor)	Sarcoma;Stomach
TSC1 oncogenic mutation	TSC1	MUT	TSC1:.		Approved	MTOR inhibitor	Everolimus	Responsive	FDA guidelines		FDA	ARodriguez-Vida	09/15	RA	RA	TRUE	TSC positive.Renal angilypoma is benign tumor	Everolimus (MTOR inhibitor)	Renal angiomyolipoma
TSC1 deletion	TSC1	CNA	TSC1:del			MTOR inhibitor	Everolimus	Responsive	Case report		PMID:24622468;ASCO 2015 (abstr 11010);ASCO 2015 (abstr 4519)	RDientsmann	01/16	R		TRUE		Everolimus (MTOR inhibitor)	Renal
TSC2 oncogenic mutation	TSC2	MUT	TSC2:.			[MTOR inhibitor]	[]	Responsive	Early trials		PMID:23312829;PMID:21525172;PMID:20048174	RDientsmann	01/16	RA		TRUE		MTOR inhibitors	Renal angiomyolipoma
TSC2 oncogenic mutation	TSC2	MUT	TSC2:.			[SRC inhibitor]	[]	Responsive	Pre-clinical		PMID:24691995	RDientsmann		LAM		TRUE		SRC inhibitors	Lymphangioleiomyomatosis
TSC2 deletion	TSC2	CNA	TSC2:del			[SRC inhibitor]	[]	Responsive	Pre-clinical		PMID:24691995	RDientsmann		LAM		TRUE	Lymphangioleiomyomatosis (LAM) is a rare, progressive, systemic disease that typically results in cystic lung destruction	SRC inhibitors	Lymphangioleiomyomatosis
TSC2 oncogenic mutation	TSC2	MUT	TSC2:.	Indirect	Approved	MTOR inhibitor	Everolimus	Responsive	Early trials		PMID:22923433	RDientsmann	01/16	BLCA		TRUE	TSC1 or TSC2 mutated	Everolimus (MTOR inhibitor)	Bladder
TSC2 oncogenic mutation	TSC2	MUT	TSC2:.		Approved	MTOR inhibitor	Everolimus	Responsive	FDA guidelines		FDA	ARodriguez-Vida;DTamborero	04/16	RA;GCA	RA	TRUE	TSC positive.Renal angilypoma is benign tumor	Everolimus (MTOR inhibitor)	Renal angiomyolipoma;Giant cell astrocytoma
TSC2 (Q1178*)	TSC2	MUT	TSC2:Q1178*	Indirect	Approved	MTOR inhibitor	Everolimus	Responsive	Case report		PMID:25295501	CRubio-Perez;RDientsmann	01/16	THCA		TRUE		Everolimus (MTOR inhibitor)	Thyroid carcinoma
TSC2 (E66K)	TSC2	MUT	TSC2:E66K			MTOR inhibitor	Tensirolimus	Responsive	Case report		PMID:27016228	RDientsmann	07/16	ED		TRUE		Tensirolimus (MTOR inhibitor)	Endometrium
SMO (D473H)	SMO	MUT	SMO:D473H			SHH inhibitor	Vismodegib	Resistant	Case report		PMID:19726788;PMID:25759019	RDientsmann		MB		TRUE		Vismodegib (SHH inhibitor)	Medulloblastoma
U2AF1 oncogenic mutation	U2AF1	MUT	U2AF1:.			[FLT3 inhibitor]	[]	Responsive	Pre-clinical		PMID:27397505	RDientsmann	07/16	CANCER		TRUE		FLT3 inhibitors	Any cancer type
UGT1A1 biallelic inactivation	UGT1A1	BIA	UGT1A1:.		Approved	TOPO1 inhibitor	Irinotecan	Increased Toxicity	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Irinotecan (TOPO1 inhibitor)	Any cancer type
UGT1A1 (G71R,P229Q)	UGT1A1	MUT	UGT1A1:G71R,P229Q		Approved	TOPO1 inhibitor	Irinotecan	Increased Toxicity	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Irinotecan (TOPO1 inhibitor)	Any cancer type
UGT1A1 biallelic inactivation	UGT1A1	BIA	UGT1A1:.		Approved	BCR-ABL inhibitor 2nd gen	Nilotinib	Increased Toxicity (Hyperbilirubinemia)	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Nilotinib (BCR-ABL inhibitor 2nd gen)	Any cancer type
UGT1A1 (G71R,P229Q)	UGT1A1	MUT	UGT1A1:G71R,P229Q		Approved	BCR-ABL inhibitor 2nd gen	Nilotinib	Increased Toxicity (Hyperbilirubinemia)	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Nilotinib (BCR-ABL inhibitor 2nd gen)	Any cancer type
UGT1A1 biallelic inactivation	UGT1A1	BIA	UGT1A1:.		Approved	VEGFR inhibitor	Pazopanib	Increased Toxicity (Hyperbilirubinemia)	FDA guidelines		FDA	DTamborero;CRubio-Perez	01/16	CANCER		TRUE		Pazopanib (VEGFR inhibitor)	Any cancer type
VEGFA amplification	VEGFA	CNA	VEGFA:amp			Pan-TK inhibitor	Sorafenib	Responsive	Early trials		PMID:24687604	RDientsmann	01/16	HC		TRUE		Sorafenib (Pan-TK inhibitor)	Hepatic carcinoma
VHL oncogenic mutation	VHL	MUT	VHL:.	Indirect	Approved	[VEGFR inhibitor]	[Sorafenib,Sunitinib,Bevacizumab,Axitinib]	Responsive	Pre-clinical	Retrospective analysis	PMID:18635227	ARodriguez-Vida	09/15	R		TRUE		VEGFR inhibitors (Sorafenib,Sunitinib,Bevacizumab,Axitinib,etc)	Renal
SMO (D473H,D473G,W535L,L412F,W281C,Q477E,G497W)	SMO	MUT	SMO:D473H,D473G,W535L,L412F,W281C,Q477E,G497W			SHH inhibitor	Vismodegib	Resistant	Case report		PMID:25759020;PMID:25306392	DTamborero;RDientsmann	04/16	BCC		TRUE		Vismodegib (SHH inhibitor)	Basal cell carcinoma
ZNRF3 oncogenic mutation	ZNRF3	MUT	ZNRF3:.			[Porcupine inhibitor]	[]	Responsive	Pre-clinical		PMID:26023187	RDientsmann		COREAD		TRUE		Porcupine inhibitors	Colorectal adenocarcinoma

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癌症生物标志物数据库-Cancer Biomarkers database

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