癌症生物标志物数据库-Cancer Biomarkers database

BiomarkerGeneAlteration typeAlterationTargetingDrug statusDrug familyDrugAssociationEvidence levelAssay typeSourceCuratorCuration datePrimary Tumor typeMetastatic Tumor TypeTCGI includedCommentsDrug full namePrimary Tumor type full name
EZH2 (A692V,Y646C,Y646F,Y646H,Y646N,Y646S,A682G)EZH2MUTEZH2:A692V,Y646C,Y646F,Y646H,Y646N,Y646S,A682GApprovedEZH2 inhibitorTazemetostatResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/fda-granted-accelerated-approval-tazemetostat-follicular-lymphoma;PMID:33035457 SDemajo;RShadrina29.04.2022FLFDA 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 amplificationERBB2CNAERBB2:ampApprovedERBB2 inhibitor;ChemotherapyNeratinib;CapecitabineResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-neratinib-metastatic-her2-positive-breast-cancer;PMID:30860945SDemajo;RShadrina13.05.2022BRCADrug combinationNeratinib (ERBB2 inhibitor) + Capecitabine (Chemotherapy)Breast adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:ampApprovedERBB2 inhibitor;ERBB2 inhibitor;ChemotherapyPertuzumab;Trastuzumab;DocetaxelResponsiveFDA guidelinesPMID:23801166SDemajo;RShadrina13.05.2022BRCADrug combinationPertuzumab (ERBB2 inhibitor)+ Trastuzumab (ERBB2 inhibitor) + Docetaxel (Chemotherapy)Breast adenocarcinoma
ERBB2 overexpressionERBB2EXPRERBB2:overApprovedERBB2 inhibitor;ERBB2 inhibitor;ChemotherapyPertuzumab;Trastuzumab;DocetaxelResponsiveFDA guidelinesPMID:23801166SDemajo;RShadrina30.06.2022BRCADrug combinationPertuzumab (ERBB2 inhibitor) + Trastuzumab (ERBB2 inhibitor) + Docetaxel (Chemotherapy)Breast adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:ampApprovedERBB2 inhibitor;Hormone therapyLapatinib;LetrozoleResponsiveFDA guidelinesFDA;PMID:19786658SDemajo;RShadrina13.05.2022BRCADrug combinationLapatinib (ERBB2 inhibitor) + Letrozole (Hormone therapy)Breast adenocarcinoma
ERBB2 expression -ERBB2EXPRERBB2:normApprovedEstrogen receptor antagonist;CDK4/6 inhibitorFulvestrant;PalbociclibResponsiveFDA guidelinesPMID:27407089SDemajo;RShadrina21.04.2022BRCA1Drug combination indicated for Hormone Receptor (HR)-Positive breast cancer Fulvestrant (Estrogen receptor antagonist) + Palbociclib (CDK4/6 inhibitor)Breast adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:ampApprovedERBB2 inhibitorMargetuximabResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-margetuximab-metastatic-her2-positive-breast-cancerSDemajo;RShadrina21.04.2023BRCA1In combination with chemotherapyMargetuximab (ERBB2 inhibitor) Breast adenocarcinoma
ERBB2 overexpressionERBB2EXPRERBB2:overApprovedERBB2 inhibitorMargetuximabResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-margetuximab-metastatic-her2-positive-breast-cancerSDemajo;RShadrina30.06.2022BRCA1In combination with chemotherapyMargetuximab (ERBB2 inhibitor) Breast adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:ampApprovedERBB2 inhibitor;ERBB2 inhibitor;ChemotherapyTucatinib;Trastuzumab;CapecitabineResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-tucatinib-patients-her2-positive-metastatic-breast-cancer;PMID:31825569SDemajo;RShadrina21.04.2024BRCA1Drug 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 mutationBRCA1MUTBRCA1:.ApprovedPARP inhibitorTalazoparibResponsiveNCCN guidelinesNCCN guideline Breast cancer 2022;PMID: 30110579SDemajo;RShadrina22.04.2022BRCAPatients with Germline BRCA1 MutationTalazoparib (PARP inhibitor)Breast adenocarcinoma
BRCA2 oncogenic mutationBRCA2MUTBRCA2:.ApprovedPARP inhibitorTalazoparibResponsiveNCCN guidelinesNCCN guideline Breast cancer 2022;PMID: 30110579SDemajo;RShadrina22.04.2022BRCAPatients with Germline BRCA2 MutationTalazoparib (PARP inhibitor)Breast adenocarcinoma
PIK3CA oncogenic mutationPIK3CAMUTPIK3CA:.ApprovedPI3K inhibitor; Estrogen receptor antagonistAlpelisib;FulvestrantResponsiveNCCN guidelinesNCCN guideline Breast cancer 2022SDemajo;RShadrina22.04.2022BRCAIndicated 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,Q546RAlpelisib (PI3K inhibitor) + Fulvestrant (Estrogen receptor antagonist)Breast adenocarcinoma
NTRK1 fusionNTRK1FUSNTRK__.ApprovedTRK Kinase InhibitorLarotrectinibResponsiveNCCN guidelinesNCCN guideline Breast cancer 2022SDemajo;RShadrina22.04.2022BRCALarotrectinib 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 fusionNTRK1FUSNTRK__.ApprovedPan-TK inhibitorEntrectinibResponsiveNCCN guidelinesNCCN guideline Breast cancer 2022SDemajo;RShadrina22.04.2022BRCALarotrectinib 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) +CD274EXPRCD274:normApprovedPD-1 blocking antibodyPembrolizumabResponsiveNCCN guidelinesNCCN guideline Breast cancer 2022SDemajo;RShadrina22.04.2022BRCACD274 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-ITDFLT3MUTFLT3::consequence::inframe_variant:572-630ApprovedPan-TK inhibitorMidostaurinResponsiveFDA guidelinesFDA:https://www.fda.gov/news-events/press-announcements/fda-approves-new-combination-treatment-acute-myeloid-leukemia;PMID:28644114SDemajo;RShadrina27.04.2022AMLDrug and chemoterphy (high dose quemotherapy) should be used in combinationMidostaurin (Pan-TK inhibitor)Acute Myeloid Leukemia
FLT3 (D835,I836)FLT3MUTFLT3:D835.,I836.ApprovedKinase inhibitor GilteritinibResponsiveFDA guidelinesFDA: https://www.fda.gov/drugs/fda-approves-gilteritinib-relapsed-or-refractory-acute-myeloid-leukemia-aml-flt3-mutatationSDemajo;RShadrina27.04.2022AMLBibliography: https://www.fda.gov/drugs/fda-approves-gilteritinib-relapsed-or-refractory-acute-myeloid-leukemia-aml-flt3-mutatation AND PMID: 31665578Gilteritinib (Kinase inhibitor )Acute Myeloid Leukemia
FLT3-ITDFLT3MUTFLT3::consequence::inframe_variant:572-630ApprovedKinase inhibitor GilteritinibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/fda-approves-gilteritinib-relapsed-or-refractory-acute-myeloid-leukemia-aml-flt3-mutatation;PMID:31665578SDemajo;RShadrina27.04.2022AMLGilteritinib (Kinase inhibitor )Acute Myeloid Leukemia
FLT3 (D835,I836)FLT3MUTFLT3:D835.,I836.ApprovedPan-TK inhibitorMidostaurinResponsiveFDA guidelinesFDA:https://www.fda.gov/news-events/press-announcements/fda-approves-new-combination-treatment-acute-myeloid-leukemia; PMID:28644114SDemajo;RShadrina27.04.2022AMLDrug and chemoterphy (high dose quemotherapy) should be used in combinationMidostaurin (Pan-TK inhibitor)Acute Myeloid Leukemia
ABL1 (T315I,V299L,G250E,F317L)ABL1MUTABL1:T315I,V299L,G250E,F317LApprovedBCR-ABL inhibitor 3rd genBosutinibResistantNCCN guidelinesNCCNSDemajo;RShadrina19.04.2022ALL;CML1Bosutinib (BCR-ABL inhibitor 3rd gen)Acute lymphoblastic leukemia; Chronic myeloid leukemia
ABL1 (T315I)ABL1MUTABL1:T315IApprovedKinase inhibitor AsciminibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-asciminib-philadelphia-chromosome-positive-chronic-myeloid-leukemiaSDemajo;RShadrina26.04.2022CML1Bibliography: 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-ABL1ABL1FUSABL1__BCRApprovedKinase inhibitor AsciminibResponsiveFDA guidelinesFDASDemajo;RShadrina26.04.2022CML1Bibliography: 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)ABL1MUTABL1:T315IApprovedBCR-ABL inhibitor 2nd genNilotinibResistantNCCN guidelinesNCCN Guideline ALL 2022SDemajo;RShadrina19.04.2022ALL1Nilotinib (BCR-ABL inhibitor 2nd gen)Acute lymphoblastic leukemia
ABL1 (E255V,Y253H,F359V)ABL1MUTABL1:E255V,Y253H,F359VApprovedBCR-ABL inhibitor 3rd gen&Pan-TK inhibitorPonatinibResponsiveNCCN guidelinesNCCN Guidelines Chronic Myeloid Leukemia 2022; PMID:34407543SDemajo;RShadrina7.04.2022CML1Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)Chronic myeloid leukemia
MYD88 (L265P)MYD88MUTMYD88:L265PApprovedKinase inhibitor Zanubrutinib ResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-zanubrutinib-waldenstroms-macroglobulinemiaSDemajo;RShadrina29.04.2022WMZanubrutinib may be also used in pateints with MYD88 wild type: PMID: 33284944Zanubrutinib (Kinase inhibitor)Waldenström macroglobulinemia
RET fusionRETFUSRET__.ApprovedTyrosine kinase inhibitorPralsetinibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-pralsetinib-ret-altered-thyroid-cancers;ASCO 2020 (abstr 109)SDemajo;RShadrina29.04.2022THMPralsetinib (Tyrosine kinase inhibitor)Medullary thyroid cancer
RET fusionRETFUSRET__.ApprovedRET kinase inhibitorSelpercatinibResponsiveFDA guidelinesFDA: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;RShadrina29.04.2022THMSelpercatinib (RET kinase inhibitor)Medullary thyroid cancer
RET fusionRETFUSRET__.Kinase inhibitor CabozantinibResponsiveEarly trialsPMID:27825636SDemajo;RShadrina29.04.2022NSCLCCabozantinib (Kinase inhibitor )Non-Small Cell Lung Cancer
BRAF (V600E)BRAFMUTBRAF:V600EApprovedMEK inhibitor;BRAF inhibitor Trametinib;DabrafenibResponsiveNCCN guidelinesNCCN 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-solidSDemajo;RShadrina8.04.2022NSCLC1Drug 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)EGFRMUTEGFR:S786I,G719.,L861QApprovedEGFR inhibitor 3rd genOsimertinibResponsiveNCCN guidelinesNCCN Non-Small Cell Lung Cancer guidlines 2022SDemajo;RShadrina8.04.2023NSCLCOsimertinib (EGFR inhibitor 3d gen)Non-Small Cell Lung Cancer
NTRK1 fusionNTRK1FUSNTRK__.ApprovedPan-TK inhibitorEntrectinibResponsiveNCCN guidelinesNCCN guidelines Gastric Cancer 2022SDemajo;RShadrina25.04.2022STSecond-Line or Subsequent Therapy Useful in Certain CircumstancesEntrectinib (Pan-TK inhibitor)Stomach
NTRK1 fusionNTRK1FUSNTRK__.ApprovedTRK Kinase InhibitorLarotrectinibResponsiveNCCN guidelinesNCCN guidelines Gastric Cancer 2022SDemajo;RShadrina25.04.2022STSecond-Line or Subsequent Therapy Useful in Certain CircumstancesLarotrectinib (TRK Kinase Inhibitor)Stomach
BRCA1 oncogenic mutationBRCA1MUTBRCA1:.ApprovedPARP inhibitorNiraparibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-niraparib-first-line-maintenance-advanced-ovarian-cancer;PMID:30948273SDemajo;RShadrina21.04.2022OV1Niraparib (PARP inhibitor)Ovary
BRCA2 oncogenic mutationBRCA2MUTBRCA2:.ApprovedPARP inhibitorNiraparibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-niraparib-first-line-maintenance-advanced-ovarian-cancer;PMID:30948273SDemajo;RShadrina21.04.2022OV1Niraparib (PARP inhibitor)Ovary
BRCA1 oncogenic mutationBRCA1MUTBRCA1:.ApprovedPARP inhibitor;VEGF mAb inhibitorOlaparib;BevacizumabResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-plus-bevacizumab-maintenance-treatment-ovarian-fallopian-tube-or-primarySDemajo;RShadrina25.04.2022OV1First-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 mutationBRCA2MUTBRCA2:.ApprovedPARP inhibitor;VEGF mAb inhibitorOlaparib;BevacizumabResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-plus-bevacizumab-maintenance-treatment-ovarian-fallopian-tube-or-primarySDemajo;RShadrina25.04.2022OV1First-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 mutationALKMUTALK:.ApprovedALK inhibitorLorlatinibResponsiveFDA guidelinesFDA: https://www.accessdata.fda.gov/drugsatfda_docs/label/2021/210868s004lbl.pdf SDemajo;RShadrina13.04.2022LUAD1Indicated 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.)EGFRMUTEGFR:L858R,S768I,L861Q,G719.ApprovedEGFR inhibitorDacomitinibResponsiveFDA guidelinesNCCN 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-0SDemajo;RShadrina13.04.2020NSCLC1Dacomitinib (EGFR inhibitor)Non-Small Cell Lung Cancer
VHL oncogenic mutationVHLMUTVHL:.ApprovedHypoxia-inducible factor inhibitor BelzutifanResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-belzutifan-cancers-associated-von-hippel-lindau-diseaseSDemajo;RShadrina25.04.2022RRBelzutifan (hypoxia-inducible factor inhibitor)Renal
EGFR (T790M)EGFRMUTEGFR:T790MApprovedEGFR inhibitor 1st genGefitinibResistantFDA guidelinesPMID:26980062SDemajo;RShadrina14.04.2020NSCLCGefitinib (EGFR inhibitor 1st gen)Non-Small Cell Lung Cancer
FGFR2 fusionFGFR2FUSFGFR2__.ApprovedFGFR inhibitorErdafitinibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-erdafitinib-metastatic-urothelial-carcinoma:PMID:31340094SDemajo;RShadrina2.05.2022BLCABLCAFor patients with locally advanced or metastatic urothelial carcinoma, with susceptible FGFR3 or FGFR2 genetic alterations, that has progressed during or following platinum-containing chemotherapyErdafitinib (FGFR inhibitor)Bladder
ATM oncogenic mutationATMMUTATM:.ApprovedPARP inhibitorOlaparibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890SDemajo;RShadrina2.05.2022PRADPRADFor Metastatic Castration-Resistant Prostate CancerOlaparib (PARP inhibitor)Prostate adenocarcinoma
BARD1 oncogenic mutationBARD1MUTBARD1:.ApprovedPARP inhibitorOlaparibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890SDemajo;RShadrina2.05.2022PRADPRADFor Metastatic Castration-Resistant Prostate CancerOlaparib (PARP inhibitor)Prostate adenocarcinoma
BRIP1 oncogenic mutationBRIP1MUTBRIP1:.ApprovedPARP inhibitorOlaparibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890SDemajo;RShadrina2.05.2022PRADPRADFor Metastatic Castration-Resistant Prostate CancerOlaparib (PARP inhibitor)Prostate adenocarcinoma
CDK12 oncogenic mutationCDK12MUTCDK12:.ApprovedPARP inhibitorOlaparibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890SDemajo;RShadrina2.05.2022PRADPRADFor Metastatic Castration-Resistant Prostate CancerOlaparib (PARP inhibitor)Prostate adenocarcinoma
CHEK1 oncogenic mutationCHEK1MUTCHEK1:.ApprovedPARP inhibitorOlaparibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890SDemajo;RShadrina2.05.2022PRADPRADFor Metastatic Castration-Resistant Prostate CancerOlaparib (PARP inhibitor)Prostate adenocarcinoma
FANCL oncogenic mutationFANCLMUTFANCL:.ApprovedPARP inhibitorOlaparibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890SDemajo;RShadrina2.05.2022PRADPRADFor Metastatic Castration-Resistant Prostate CancerOlaparib (PARP inhibitor)Prostate adenocarcinoma
BRCA1 oncogenic mutationBRCA1MUTBRCA1:.ApprovedPARP inhibitorRucaparibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-rucaparib-brca-mutated-metastatic-castration-resistant-prostate;PMID: 32795228SDemajo;RShadrina2.05.2022PRADPRAD1For BRCA-mutated metastatic castration-resistant prostate cancerRucaparib (PARP inhibitor)Prostate adenocarcinoma
BRCA2 oncogenic mutationBRCA2MUTBRCA2:.ApprovedPARP inhibitorRucaparibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-rucaparib-brca-mutated-metastatic-castration-resistant-prostate;PMID: 32795228SDemajo;RShadrina2.05.2022PRADPRAD1For BRCA-mutated metastatic castration-resistant prostate cancerRucaparib (PARP inhibitor)Prostate adenocarcinoma
FGFR3 fusionFGFR3FUSFGFR3__.ApprovedFGFR inhibitorErdafitinibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-erdafitinib-metastatic-urothelial-carcinoma:PMID:31340094SDemajo;RShadrina2.05.2022BLCABLCAFor patients with locally advanced or metastatic urothelial carcinoma, with susceptible FGFR3 or FGFR2 genetic alterations, that has progressed during or following platinum-containing chemotherapyErdafitinib (FGFR inhibitor)Bladder
FGFR3 (G370C,R248C,S249C,Y373C)FGFR3MUTFGFR3:G370C,R248C,S249C,Y373CApprovedFGFR inhibitorErdafitinibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-erdafitinib-metastatic-urothelial-carcinoma:PMID:31340094SDemajo;RShadrina2.05.2022BLCABLCAErdafitinib (FGFR inhibitor)Bladder
BRAF (V600E)BRAFMUTBRAF:V600EApprovedBRAF inhibitor;EGFR mAb inhibitorEncorafenib;CetuximabResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-encorafenib-combination-cetuximab-metastatic-colorectal-cancer-braf-v600e-mutation;PMID:31566309SDemajo;RShadrina4.05.2022COREADDrug combinationEncorafenib (BRAF inhibitor) + Cetuximab (EGFR mAb inhibitor)Colorectal adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:ampApprovedPD-1 blocking antibody;ERBB2 mAb inhibitorPembrolizumab;TrastuzumabResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-pembrolizumab-her2-positive-gastric-cancer;PMID:34912120SDemajo;RShadrina4.05.2022ST;GEJATreatment 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) adenocarcinomaPembrolizumab (PD-1 blocking antibody) + Trastuzumab (ERBB2 mAb inhibitor)Stomach;Gastroesophageal junction adenocarcinoma
ERBB2 overexpressionERBB2EXPRERBB2:overApprovedPD-1 blocking antibody;ERBB2 mAb inhibitorPembrolizumab;TrastuzumabResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-pembrolizumab-her2-positive-gastric-cancer;PMID:34912120SDemajo;RShadrina4.05.2022ST;GEJATreatment 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) adenocarcinomaPembrolizumab (PD-1 blocking antibody) + Trastuzumab (ERBB2 mAb inhibitor)Stomach;Gastroesophageal junction adenocarcinoma
KRAS wildtypeKRASMUTKRAS::wildtype:.ApprovedEGFR mAb inhibitorPanitumumabResponsiveFDA guidelinesPMID: 31268481SDemajo;RShadrina04.05.2022COREAD1Drug alone or in combination with chemotherapy (fluorouracil-leucovorin)Panitumumab (EGFR mAb inhibitor)Colorectal cancer
KRAS wildtypeKRASMUTKRAS::wildtype:.ApprovedEGFR mAb inhibitorCetuximabResponsiveFDA guidelinesPMID: 19339720SDemajo;RShadrina04.05.2022COREAD1Drug alone or in combination with chemotherapyCetuximab (EGFR mAb inhibitor)Colorectal adenocarcinoma
KIT (Y823D,N822,C809G,D820,A829P,D816,T670I)KITMUTKIT:Y823D,N822.,C809G,D820.,A829P,D816,T670IApprovedKinase inhibitorRipretinibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-ripretinib-advanced-gastrointestinal-stromal-tumor;PMID:32511981SDemajo;RShadrina05.05.2022GISTApproved 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 insertionsEGFRMUTEGFR::consequence::inframe_insertion:762-823ApprovedEGFR inhibitorMobocertinibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-mobocertinib-metastatic-non-small-cell-lung-cancer-egfr-exon-20SDemajo;RShadrina18.05.2022NSCLCTRUEApproved 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 insertionsEGFRMUTEGFR::consequence::inframe_insertion:762-823ApprovedEGFR mAb inhibitorAmivantamabResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-amivantamab-vmjw-metastatic-non-small-cell-lung-cancerSDemajo;RShadrina18.05.2022NSCLCTRUEApproved 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 fusionFGFR2FUSFGFR2__.ApprovedFGFR kinase inhibitorInfigratinibResponsiveFDA guidelinesFDA https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-infigratinib-metastatic-cholangiocarcinomaSDemajo;RShadrina18.05.2022CHApproved 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 testInfigratinib (FGFR kinase inhibitor)Cholangiocarcinoma
FGFR2 fusionFGFR2FUSFGFR2__.ApprovedFGFR kinase inhibitorPemigatinibResponsiveFDA guidelinesFDA;PMID:32203698SDemajo;RShadrina18.05.2022CHhttps://www.accessdata.fda.gov/drugsatfda_docs/label/2020/213736s000lbl.pdf Pemigatinib (FGFR kinase inhibitor)Cholangiocarcinoma
IDH1 oncogenic mutationIDH1MUTIDH1:R132ApprovedIDH1 inhibitorIvosidenibResponsiveFDA guidelinesFDA;PMID:34554208;PMID:32416072SDemajo;RShadrina18.05.2022CHIvosidenib (IDH1 inhibitor)Cholangiocarcinoma
IDH1 (R132C,R132G,R132H,R132L,R132S)IDH1MUTIDH1:R132C,R132G,R132H,R132L,R132SApprovedIDH1 inhibitorIvosidenibResponsiveFDA guidelinesFDA https://www.accessdata.fda.gov/drugsatfda_docs/label/2021/211192_s008lbl.pdf SDemajo;RShadrina23.05.2022AMLIvosidenib (IDH1 inhibitor)Acute Myeloid Leukemia
KRAS (G12C)KRASMUTKRAS:G12CApprovedRAS GTPase family inhibitorSotorasibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-sotorasib-kras-g12c-mutated-nsclcSDemajo;RShadrina18.05.2022NSCLCSotorasib (RAS GTPase family inhibitor)Non-Small Cell Lung Cancer
PDGFRA exon 18 mutationsPDGFRAMUTPDGFRA::consequence::inframe_deletion:814-852,::inframe_insertion:814-852,::missense_variant:814-852ApprovedKinase inhibitorAvapritinibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-avapritinib-gastrointestinal-stromal-tumor-rare-mutationSDemajo;RShadrina23.05.2022GISTAvapritinib (Kinase inhibitor)Gastrointestinal stromal
PDGFRA (D842V)PDGFRAMUTPDGFRA:D842VApprovedKinase inhibitorAvapritinibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-avapritinib-gastrointestinal-stromal-tumor-rare-mutation;PMID:32615108SDemajo;RShadrina23.05.2022GISTAvapritinib (Kinase inhibitor)Gastrointestinal stromal
MET exon 14 skipping mutationsMETMUTMET::consequence::skipping_mutation:963-1010ApprovedMET inhibitorTepotinibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-tepotinib-metastatic-non-small-cell-lung-cancer;PMID:31279006;PMID:34036238SDemajo;RShadrina23.05.2022NSCLCTepotinib (MET inhibitor)Non-Small Cell Lung Cancer
MET exon 14 skipping mutationsMETMUTMET::consequence::skipping_mutation:963-1010ApprovedMET inhibitorCapmatinibResponsiveFDA guidelinesFDA: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;RShadrina23.05.2022NSCLCCapmatinib (MET inhibitor)Non-Small Cell Lung Cancer
ROS1 fusionROS1FUSROS1__.ApprovedPan-TK inhibitorEntrectinibResponsiveFDA guidelinesFDA;PMID:28183697;ESMO 2019 (abstr 4178)SDemajo;RShadrina23.05.2022NSCLCTRUEEntrectinib (Pan-TK inhibitor)Non-small cell lung
CXCR4CXCR4MUTCXCR4:.ApprovedKinase inhibitor IbrutinibResistantEarly trialsPMID:31267520SDemajo;RShadrina24.05.2022WMIbrutinib (Kinase inhibitor )Waldenström macroglobulinemia
ABL1 (T315I)ABL1MUTABL1:T315IApprovedBCR-ABL inhibitor 3rd genBosutinibResistantNCCN guidelinesNCCN Guideline ALL 2022SDemajo;RShadrina17.06.2022ALLTRUEBosutinib (BCR-ABL inhibitor 3rd gen)Acute lymphoblastic leukemia
NTRK1 fusionNTRK1FUSNTRK__.ApprovedTRK Kinase InhibitorLarotrectinibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/fda-approves-larotrectinib-solid-tumors-ntrk-gene-fusionsSDemajo;RShadrina29.06.2022CANCERLarotrectinib 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 fusionNTRK1FUSNTRK__.ApprovedPan-TK inhibitorEntrectinibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-entrectinib-ntrk-solid-tumors-and-ros-1-nsclcSDemajo;RShadrina29.06.2022CANCERLarotrectinib 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 overexpressionERBB2EXPRERBB2:overApprovedERBB2 inhibitor;ChemotherapyNeratinib;CapecitabineResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-neratinib-metastatic-her2-positive-breast-cancer;PMID:30860945SDemajo;RShadrina30.06.2022BRCADrug combinationNeratinib (ERBB2 inhibitor) + Capecitabine (Chemotherapy)Breast adenocarcinoma
ERBB2 overexpressionERBB2EXPRERBB2:overApprovedERBB2 inhibitor;Hormone therapyLapatinib;LetrozoleResponsiveFDA guidelinesFDA;PMID:19786658SDemajo;RShadrina30.06.2022BRCADrug combinationLapatinib (ERBB2 inhibitor) + Letrozole (Hormone therapy)Breast adenocarcinoma
ERBB2 overexpressionERBB2EXPRERBB2:overApprovedERBB2 inhibitor;ERBB2 inhibitor;ChemotherapyTucatinib;Trastuzumab;CapecitabineResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-tucatinib-patients-her2-positive-metastatic-breast-cancer;PMID:31825569SDemajo;RShadrina30.06.2022BRCA1Drug 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 fusionRETFUSRET__.ApprovedTyrosine kinase inhibitorPralsetinibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-pralsetinib-lung-cancer-ret-gene-fusionsSDemajo;RShadrina30.06.2022NSCLCPralsetinib (Tyrosine kinase inhibitor)Non-small cell lung
RET fusionRETFUSRET__.ApprovedRET kinase inhibitorSelpercatinibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-selpercatinib-lung-and-thyroid-cancers-ret-gene-mutations-or-fusionsSDemajo;RShadrina30.06.2022NSCLCSelpercatinib (RET kinase inhibitor)Non-small cell lung
PALB2 oncogenic mutationPALB2MUTPALB2:.ApprovedPARP inhibitorOlaparibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890SDemajo;RShadrina04.07.2022PRADPRADFor Metastatic Castration-Resistant Prostate CancerOlaparib (PARP inhibitor)Prostate adenocarcinoma
RAD51B oncogenic mutationRAD51BMUTRAD51B:.ApprovedPARP inhibitorOlaparibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890SDemajo;RShadrina04.07.2022PRADPRADFor Metastatic Castration-Resistant Prostate CancerOlaparib (PARP inhibitor)Prostate adenocarcinoma
RAD51C oncogenic mutationRAD51CMUTRAD51C:.ApprovedPARP inhibitorOlaparibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890SDemajo;RShadrina04.07.2022PRADPRADFor Metastatic Castration-Resistant Prostate CancerOlaparib (PARP inhibitor)Prostate adenocarcinoma
RAD51D oncogenic mutationRAD51DMUTRAD51D:.ApprovedPARP inhibitorOlaparibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890SDemajo;RShadrina04.07.2022PRADPRADFor Metastatic Castration-Resistant Prostate CancerOlaparib (PARP inhibitor)Prostate adenocarcinoma
RAD54L oncogenic mutationRAD54LMUTRAD54L:.ApprovedPARP inhibitorOlaparibResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890SDemajo;RShadrina04.07.2022PRADPRADFor Metastatic Castration-Resistant Prostate CancerOlaparib (PARP inhibitor)Prostate adenocarcinoma
PIK3CA (C420R,E542K,E545A,E545D,E545G,E545K,H1047L,H1047R,H1047Y,Q546E,Q546R)PIK3CAMUTPIK3CA:C420R,E542K,E545A,E545D,E545G,E545K,H1047L,H1047R,H1047Y,Q546E,Q546RApprovedPI3K inhibitor; Estrogen receptor antagonistAlpelisib;FulvestrantResponsiveNCCN guidelinesFDA;PMID:31091374SDemajo;RShadrina22.04.2022BRCAIndicated 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,Q546RAlpelisib (PI3K inhibitor) + Fulvestrant (Estrogen receptor antagonist)Breast adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:ampAntibody-drug conjugate: ERBB2 mAb inhibitor + topoisomerase I inhibitorTrastuzumab deruxtecan-nxkiResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-fam-trastuzumab-deruxtecan-nxki-her2-positive-gastric-adenocarcinomasSDemajo;RShadrina12.09.2022ST;GEJAIndicated 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 overexpressionERBB2EXPRERBB2:overAntibody-drug conjugate: ERBB2 mAb inhibitor + topoisomerase I inhibitorTrastuzumab deruxtecan-nxkiResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-fam-trastuzumab-deruxtecan-nxki-her2-positive-gastric-adenocarcinomasSDemajo;RShadrina12.09.2022ST;GEJAIndicated 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 mutationERBB2MUTERBB2:.Antibody-drug conjugate: ERBB2 mAb inhibitor + topoisomerase I inhibitorTrastuzumab deruxtecan-nxkiResponsiveFDA guidelinesFDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-fam-trastuzumab-deruxtecan-nxki-her2-mutant-non-small-cell-lungSDemajo;RShadrina12.09.2022NSCLCIndicated 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)AKT1MUTAKT1:Q79K,E17K[BRAF inhibitor][]ResistantCase reportPMID:24265152RDientsmann;DTamborero03/16CMTRUEBRAF inhibitorsCutaneous melanoma
ABL1 (T315I)ABL1MUTABL1:T315IVEGFR inhibitorAxitinibResponsivePre-clinicalPMID:25686603DTamborero03/16CANCERTRUEAxitinib (VEGFR inhibitor)Any cancer type
ABL1-BCR fusionABL1FUSABL1__BCRApprovedBCR-ABL inhibitor 3rd genBosutinibResponsiveFDA guidelinesFDACRubio-Perez;DTamborero;RDientsmannCMLTRUEBosutinib (BCR-ABL inhibitor 3rd gen)Chronic myeloid leukemia
ABL1 (T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I)ABL1MUTABL1:T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359IApprovedBCR-ABL inhibitor 3rd genBosutinibResponsiveNCCN guidelinesPMID:21562040RDientsmannCMLTRUEBosutinib (BCR-ABL inhibitor 3rd gen)Chronic myeloid leukemia
ARAF oncogenic mutationARAFMUTARAF:.[BRAF inhibitor;EGFR mAb inhibitor][]ResistantCase reportENA 2014 (abstr 428)RDientsmannCOREADTRUEBRAF inhibitor + EGFR mAb inhibitorsColorectal adenocarcinoma
ABL1 (V299L)ABL1MUTABL1:V299LPan-kinase inhibitorCabozantinibResponsivePre-clinicalPMID:26924578DTamborero03/16CANCERTRUECabozantinib (Pan-kinase inhibitor)Any cancer type
ABL1 (V299L)ABL1MUTABL1:V299LALK inhibitorCrizotinibResponsivePre-clinicalPMID:26924578DTamborero03/16CANCERTRUECrizotinib (ALK inhibitor)Any cancer type
ABL1-BCR fusionABL1FUSABL1__BCRApprovedBCR-ABL inhibitor 2nd genDasatinibResponsiveFDA guidelinesFDACRubio-Perez;DTamborero;RDientsmannCML;ALLTRUEIn 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)ABL1MUTABL1:F359V,F359C,F359I,Y253H,E255K,E255VApprovedBCR-ABL inhibitor 2nd genDasatinibResponsiveNCCN guidelinesPMID:21562040RDientsmannCMLTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Chronic myeloid leukemia
ARAF oncogenic mutationARAFMUTARAF:.[BRAF inhibitor;MEK inhibitor][]ResistantCase reportENA 2014 (abstr 428)RDientsmannCOREADTRUEBRAF inhibitor + MEK inhibitorsColorectal adenocarcinoma
ABL1-BCR fusionABL1FUSABL1__BCRBCR-ABL inhibitor 2nd gen;BCL2 inhibitorDasatinib;VenetoclaxResponsivePre-clinicalPMID:27582059RDientsmann12/16ALLTRUEDasatinib + Venetoclax (BCR-ABL inhibitor 2nd gen + BCL2 inhibitor)Acute lymphoblastic leukemia
ABL1 (V299L)ABL1MUTABL1:V299LMET inhibitorForetinib ResponsivePre-clinicalPMID:26924578DTamborero03/16CANCERTRUEForetinib  (MET inhibitor)Any cancer type
ABL1-BCR fusionABL1FUSABL1__BCRApprovedBCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResponsiveFDA guidelinesEMACRubio-Perez;DTamborero;RDientsmannCML;ALLTRUEhttp://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 mutationB2MMUTB2M:.[PD1 Ab inhibitor][]ResistantCase reportPMID:27433843RDientsmann07/16CMTRUEPD1 Ab inhibitorsCutaneous melanoma
ABL1-BCR fusionABL1FUSABL1__BCRApprovedBCR-ABL inhibitor 2nd genNilotinibResponsiveFDA guidelinesFDACRubio-Perez;DTamborero;RDientsmannCMLTRUEIn 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)ABL1MUTABL1:T315A,F317L,F317V,F317I,F317C,V299LApprovedBCR-ABL inhibitor 2nd genNilotinibResponsiveNCCN guidelinesPMID:21562040RDientsmannCMLTRUENilotinib (BCR-ABL inhibitor 2nd gen)Chronic myeloid leukemia
ABL1-BCR fusionABL1FUSABL1__BCRApprovedBCR-ABL inhibitor 3rd gen&Pan-TK inhibitorPonatinibResponsiveFDA guidelinesFDACRubio-Perez;DTamborero;RDientsmannCML;ALLTRUEPonatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)Chronic myeloid leukemia;Acute lymphoblastic leukemia
ABL1 (T315I)ABL1MUTABL1:T315IApprovedBCR-ABL inhibitor 3rd gen&Pan-TK inhibitorPonatinibResponsiveFDA guidelinesFDACRubio-Perez;DTamborero;RDientsmann12/15CML;ALLTRUEREMAP: from T315. to T315I, 12/15 label update states the complete aminoacid changePonatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)Chronic myeloid leukemia;Acute lymphoblastic leukemia
ABL1 (T315I)ABL1MUTABL1:T315IApprovedBCR-ABL inhibitor 3rd gen&Pan-TK inhibitorPonatinibResponsiveNCCN guidelinesPMID:21562040RDientsmannCMLTRUEPonatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)Chronic myeloid leukemia
ABL1 (V299L)ABL1MUTABL1:V299LPan-TK inhibitorVandetanibResponsivePre-clinicalPMID:26924578DTamborero03/16CANCERTRUEVandetanib (Pan-TK inhibitor)Any cancer type
AKT1 (E17K)AKT1MUTAKT1:E17KClinical Trials[AKT inhibitor][]ResponsivePre-clinicalPMID:21464312;PMID:17611497;PMID:23134728; ENA 2015 (abstr B109)RDientsmann11/15CANCERTRUEAKT inhibitorsAny cancer type
AKT1 (E17K)AKT1MUTAKT1:E17K[allosteric AKT inhibitor][]ResponsiveEarly trialsENA 2015 (abstract B109);PMID:28489509RDientsmann07/17CANCERTRUEallosteric AKT inhibitorsAny cancer type
BRAF (V600E,G469A)BRAFMUTBRAF:V600E,G469A[EGFR TK inhibitor][]ResistantCase reportPMID:22773810RDientsmann04/16LUADTRUEUPDATE: delete G469A mutation in v16 GDKD?EGFR TK inhibitorsLung adenocarcinoma
AKT1 (E17K)AKT1MUTAKT1:E17KClinical Trials[non-allosteric AKT inhibitor][]ResponsiveEarly trialsENA 2015 (abstract B109);PMID:28489509RDientsmann07/17CANCERTRUEnon-allosteric AKT inhibitorsAny cancer type
AKT1 (E17K)AKT1MUTAKT1:E17K[PI3K pathway inhibitor][]ResponsiveCase reportPMID:26763254RDientsmann07/16HNSCTRUEPI3K pathway inhibitorsHead an neck squamous
AKT1 (H238Y)AKT1MUTAKT1:H238YMTOR inhibitorEverolimusResponsiveCase reportASCO 2015 (abstr 11010)RDientsmannFHTRUEEverolimus (MTOR inhibitor)Fibrous histiocytoma
AKT1 (E17K)AKT1MUTAKT1:E17KMTOR inhibitorTensirolimusResponsiveEarly trialsPMID:27016228RDientsmann07/16EDTRUETensirolimus (MTOR inhibitor)Endometrium
AKT2 amplificationAKT2CNAAKT2:ampClinical TrialsAllosteric AKT inhibitorMK2206ResponsivePre-clinicalENA 2014 (abstr 373)RDientsmannCANCERTRUEMK2206 (Allosteric AKT inhibitor)Any cancer type
AKT3 fusionAKT3FUSAKT3__.DirectClinical Trials;Clinical Trials[ATP competitive AKT inhibitor][AZD5363,GSK2141795]ResponsivePre-clinicalCell linePMID:22722202JAlbanell;ARovira;RDientsmann09/15BRCATRUEATP competitive AKT inhibitors (AZD5363,GSK2141795,etc)Breast adenocarcinoma
ALK fusionALKFUSALK__.[ALK inhibitor;IGF1R inhibitor][]ResponsivePre-clinicalPMID:25173427RDientsmann01/16LUADTRUEALK inhibitor + IGF1R inhibitorsLung adenocarcinoma
ALK fusionALKFUSALK__.[ALK inhibitor;MEK inhibitor][]ResponsivePre-clinicalPMID:26301689RDientsmann01/16LUADTRUEALK inhibitor + MEK inhibitorsLung adenocarcinoma
ALK fusionALKFUSALK__.[ALK inhibitor;SRC inhibitor][]ResponsivePre-clinicalPMID:25394791RDientsmann01/16LUADTRUEALK inhibitor + SRC inhibitorsLung adenocarcinoma
ALK fusionALKFUSALK__.[ALK inhibitor][]ResponsiveCase reportPMID:26633560RDientsmann01/16COREADTRUEALK inhibitorsColorectal adenocarcinoma
ALK fusionALKFUSALK__.[HSP90 inhibitor][]ResponsiveEarly trialsPMID:23553849RDientsmann01/16LUADTRUEHSP90 inhibitorsLung adenocarcinoma
ALK fusionALKFUSALK__.[novel ALK inhibitor][]ResponsiveEarly trialsPMID:23639470RDientsmann01/16LUADTRUEnovel ALK inhibitorsLung adenocarcinoma
ALK (F1174L)ALKMUTALK:F1174L[novel ALK inhibitor][]ResponsivePre-clinicalPMID:24327273RDientsmann01/16LUADTRUEnovel ALK inhibitorsLung adenocarcinoma
ALK fusionALKFUSALK__.ApprovedALK inhibitorAlectinibResponsiveFDA guidelinesFDARDientsmann12/16LUADTRUEAlectinib (ALK inhibitor)Lung adenocarcinoma
ALK fusionALKFUSALK__.ApprovedALK inhibitorAlectinibResponsiveFDA guidelinesFDAEArriola;CRubio-PerezNSCLCTRUEAlectinib (ALK inhibitor)Non-small cell lung
CCND1 amplificationCCND1CNACCND1:amp[SMO inhibitor][]ResistantPre-clinicalPMID:24951114DTamborero;RDientsmannMBTRUESMO inhibitorsMedulloblastoma
ALK amplificationALKCNAALK:ampPan-TK inhibitorBrigatinibResponsiveCase reportASCO 2017 (abstr 9065)RDientsmann07/17LUADTRUEBrigatinib (Pan-TK inhibitor)Lung adenocarcinoma
ALK (E1408V)ALKMUTALK:E1408VPan-TK inhibitorBrigatinibResponsiveCase reportASCO 2017 (abstr 9065)RDientsmann07/17LUADTRUEBrigatinib (Pan-TK inhibitor)Lung adenocarcinoma
ALK (L1196M)ALKMUTALK:L1196MPan-TK inhibitorBrigatinibResponsiveCase reportASCO 2017 (abstr 9065)RDientsmann07/17LUADTRUEBrigatinib (Pan-TK inhibitor)Lung adenocarcinoma
ALK fusionALKFUSALK__.ApprovedALK inhibitorCeritinibResponsiveFDA guidelinesFDACRubio-Perez;DTamborero;RDientsmann12/16NSCLC;LUADTRUECeritinib (ALK inhibitor)Non-small cell lung;Lung adenocarcinoma
ALK fusionALKFUSALK__.ALK inhibitorCeritinibResponsiveCase reportPMID:26633560;PMID:26933125;PMID:27742657RDientsmann12/16COREAD;IMTRUECeritinib (ALK inhibitor)Colorectal adenocarcinoma;Inflammatory myofibroblastic
ALK fusionALKFUSALK__.DirectClinical TrialsALK inhibitorCeritinibResponsiveEarly trialsNCT02186821ECampoHEMATOTRUECeritinib (ALK inhibitor)Hematologic malignancies
ALK inframe insertion (1151T)ALKMUTALK::consequence::inframe_insertion:.1151T.ALK inhibitorCeritinibResponsiveFDA guidelinesPMID:24670165RDientsmann01/16LUADTRUECeritinib (ALK inhibitor)Lung adenocarcinoma
CTNNB1 oncogenic mutationCTNNB1MUTCTNNB1:.[Tankyrase inhibitor][]ResistantPre-clinicalPMID:23539443RDientsmannCOREADTRUETankyrase inhibitorsColorectal adenocarcinoma
ALK (L1196M,S1206Y,G1269A,I1171T)ALKMUTALK:L1196M,S1206Y,G1269A,I1171TALK inhibitorCeritinibResponsiveFDA guidelinesPMID:24670165;PMID:24327273RDientsmann01/16LUADTRUECeritinib (ALK inhibitor)Lung adenocarcinoma
ALK fusionALKFUSALK__.ALK inhibitorCrizotinibResponsiveEarly trialsPMID:24491302;NCT02270034MMartínez;RDientsmann09/15LY;GBTRUECrizotinib (ALK inhibitor)Lymphoma;Glioblastoma
ALK fusionALKFUSALK__.ApprovedALK inhibitorCrizotinibResponsiveFDA guidelinesFDACRubio-Perez;DTamborero;RDientsmannNSCLC;LUADTRUECrizotinib (ALK inhibitor)Non-small cell lung;Lung adenocarcinoma
ALK fusionALKFUSALK__.ALK inhibitorCrizotinibResponsiveCase reportPMID:20979472;PMID:24687827RDientsmannIM;THCATRUECrizotinib (ALK inhibitor)Inflammatory myofibroblastic;Thyroid carcinoma
EGFR inframe deletion (30-336)EGFRMUTEGFR::consequence::inframe_deletion:30-336[EGFR inhibitor 1st gen][]No ResponsiveEarly trialsPMID:19204207RDientsmannGTRUEEGFR inhibitor 1st gensGlioma
EGFR exon 20 insertionsEGFRMUTEGFR::consequence::inframe_insertion:762-823[EGFR inhibitor 1st gen][]ResistantLate trialsPMID:21764376;PMID:26773740;PMID:26051236RDientsmann12/16LTRUEEGFR inhibitor 1st gensLung
EGFR amplificationEGFRCNAEGFR:amp[EGFR inhibitor 1st gen][]No ResponsiveEarly trialsPMID:16282176;PMID:16278407RDientsmannGTRUEEGFR inhibitor 1st gensGlioma
EGFR (D761Y)EGFRMUTEGFR:D761Y[EGFR inhibitor 1st gen][]ResistantCase reportPMID:19680293DTamboreroNSCLCTRUEEGFR inhibitor 1st gensNon-small cell lung
EGFR (T790M)EGFRMUTEGFR:T790M[EGFR inhibitor 1st gen][]ResistantLate trialsPMID:19680293DTamborero01/16NSCLCTRUEEGFR inhibitor 1st gensNon-small cell lung
EGFR inframe deletion (30-336)EGFRMUTEGFR::consequence::inframe_deletion:30-336[EGFR inhibitor 2nd gen][]No ResponsiveEarly trialsPMID:19204207RDientsmannGTRUEEGFR inhibitor 2nd gensGlioma
ALK (F856S,A348D)ALKMUTALK:F856S,A348DALK inhibitorCrizotinibResponsivePre-clinicalPMID:26032424RDientsmann01/16AMLTRUECrizotinib (ALK inhibitor)Acute myeloid leukemia
EGFR amplificationEGFRCNAEGFR:amp[EGFR inhibitor 2nd gen][]No ResponsiveEarly trialsPMID:16282176;PMID:16278407RDientsmannGTRUEEGFR inhibitor 2nd gensGlioma
ALK (L1198F)ALKMUTALK:L1198FALK inhibitorCrizotinibResponsiveCase reportPMID:26698910RDientsmann04/16LUADTRUECrizotinib (ALK inhibitor)Lung adenocarcinoma
ALK (R1275Q,G1128A,I1171N,R1192P,F1245C)ALKMUTALK:R1275Q,G1128A,I1171N,R1192P,F1245CALK inhibitorCrizotinibResponsivePre-clinicalPMID:22072639RDientsmannGTRUECrizotinib (ALK inhibitor)Glioma
ALK fusionALKFUSALK__.Pan-TK inhibitorEntrectinibResponsiveCase reportPMID:26633560;PMID:26933125RDientsmann12/16COREADTRUEEntrectinib (Pan-TK inhibitor)Colorectal adenocarcinoma
ALK fusionALKFUSALK__.ALK&ROS1 inhibitorLorlatinibResponsiveEarly trialsPMID:26951079RDientsmann;CRubio-Perez07/17NSCLCTRUELorlatinib (ALK&ROS1 inhibitor)Non-small cell lung
ALK fusionALKFUSALK__.ApprovedPan-TK inhibitorBrigatinibResponsiveFDA guidelinesFDARDientsmann;CRubio-Perez07/17NSCLCTRUEBrigatinib (Pan-TK inhibitor)Non-small cell lung
ALK (C1156Y)ALKMUTALK:C1156YALK&ROS1 inhibitorLorlatinibResponsivePre-clinicalPMID:27401242RDientsmann07/17LUADTRUELorlatinib (ALK&ROS1 inhibitor)Lung adenocarcinoma
APC oncogenic mutationAPCMUTAPC:.[Tankyrase inhibitor][]ResponsivePre-clinicalPMID:22440753;PMID:23539443RDientsmannCOREADTRUETankyrase inhibitorsColorectal adenocarcinoma
EGFR (T790M)EGFRMUTEGFR:T790M[EGFR inhibitor 2nd gen][]ResistantLate trialsPMID:22452896DTamborero01/16NSCLCTRUEEGFR inhibitor 2nd gensNon-small cell lung
EGFR inframe deletion (30-336)EGFRMUTEGFR::consequence::inframe_deletion:30-336[EGFR inhibitor 3rd gen][]No ResponsiveEarly trialsPMID:19204207RDientsmannGTRUEEGFR inhibitor 3rd gensGlioma
EGFR amplificationEGFRCNAEGFR:amp[EGFR inhibitor 3rd gen][]No ResponsiveEarly trialsPMID:16282176;PMID:16278407RDientsmannGTRUEEGFR inhibitor 3rd gensGlioma
AR amplificationARCNAAR:amp[AR inhibitor next gen][]ResponsivePre-clinicalPMID:23589709;PMID:21859989RDientsmannPRADTRUEAR inhibitor next gensProstate adenocarcinoma
AR overexpressionAREXPRAR:overDirectClinical Trials[AR inhibitor][Bicalutamide,Enzalutamide,Orterone,4OHtestosterone]ResponsiveEarly trialsASCO 2015 (abstr 1003)JAlbanell;ARovira09/15BRCATRUEAR inhibitors (Bicalutamide,Enzalutamide,Orterone,4OHtestosterone,etc)Breast adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:amp[EGFR inhibitor][]ResistantPre-clinicalPMID:22956644EArriola06/16LUADTRUEEGFR inhibitorsLung adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:amp[EGFR mAb inhibitor][]ResistantEarly trialsPMID:22586653;PMID:23348520RDientsmannCOREADTRUEEGFR mAb inhibitorsColorectal adenocarcinoma
ERBB3 amplificationERBB3CNAERBB3:amp[EGFR mAb inhibitor][]ResistantEarly trialsPMID:25520391RDientsmannCOREADTRUEEGFR mAb inhibitorsColorectal adenocarcinoma
ESR1-YAP1 fusionESR1FUSESR1__YAP1[ESR1 inhibitor][]ResistantPre-clinicalPMID:24055055RDientsmannBRCATRUEESR1 inhibitorsBreast adenocarcinoma
AR overexpressionAREXPRAR:overDirectApprovedAR inhibitorEnzalutamideResponsiveEarly trialsPMID:24882673ARodriguez-Vida09/15PRADPRADTRUEEnzalutamide (AR inhibitor)Prostate adenocarcinoma
FBXW7 oncogenic mutationFBXW7MUTFBXW7:.[Tubulin inhibitor][]ResistantPre-clinicalPMID:21368834RDientsmannCANCERTRUETubulin inhibitorsAny cancer type
AR (F877L) + AR (T878A)AR;ARMUT;MUTAR:F877L;AR:T878AAR inhibitorEnzalutamideResponsivePre-clinicalPMID:27196756RDientsmann12/16PRADTRUEEnzalutamide (AR inhibitor)Prostate adenocarcinoma
FBXW7 deletionFBXW7CNAFBXW7:del[Tubulin inhibitor][]ResistantPre-clinicalPMID:21368834RDientsmannCANCERTRUETubulin inhibitorsAny cancer type
FGFR2 (N549H,V564F,K659M,L617V,K641R,R565A) + FGFR2 fusionFGFR2;FGFR2MUT;FUSFGFR2:N549H,V564F,K659M,L617V,K641R,R565A;FGFR2__.[FGFR inhibitor][]ResistantEarly trialsPMID:28034880;ASCO 2017 (abstr 2500)RDientsmann07/17CHTRUEFGFR inhibitorsCholangiocarcinoma
ARAF (S214C)ARAFMUTARAF:S214CDirect:primary targetFDA approvedPan-TK inhibitorSorafenibResponsiveCase reporthttp://www.jci.org/articles/view/72763;PMID:24569458JAlbanell;ARovira;RDientsmann09/15LUADTRUESorafenib (Pan-TK inhibitor)Lung adenocarcinoma
AREG amplificationAREGCNAAREG:amp[EGFR mAb inhibitor][]ResponsiveEarly trialsPMID:19738126;PMID:26341080RDientsmann04/16COREADTRUEEGFR mAb inhibitorsColorectal adenocarcinoma
ARID1A oncogenic mutationARID1AMUTARID1A:.[ATR inhibitors][]ResponsivePre-clinicalPMID:27958275RDientsmann07/17CANCERTRUEATR inhibitorsAny cancer type
ARID1A oncogenic mutationARID1AMUTARID1A:.[EZH2 inhibitor][]ResponsivePre-clinicalPMID:25686104RDientsmann01/16OVTRUEEZH2 inhibitorsOvary
ARID1A oncogenic mutationARID1AMUTARID1A:.[PARP inhibitor][]ResponsivePre-clinicalPMID:26069190RDientsmann11/15CANCERTRUEPARP inhibitorsAny cancer type
FGFR3 (V555M)FGFR3MUTFGFR3:V555M[FGFR inhibitor][]ResistantPre-clinicalPMID:22869148RDientsmannMYMATRUEFGFR inhibitorsMyeloma
GLI2 amplificationGLI2CNAGLI2:amp[SMO inhibitor][]ResistantPre-clinicalPMID:24951114DTamborero;RDientsmannMBTRUESMO inhibitorsMedulloblastoma
ATM oncogenic mutationATMMUTATM:.[ATR inhibitor][]ResponsiveCase reportENA 2015 (abstr A48)RDientsmann11/15COREADTRUEATR inhibitorsColorectal adenocarcinoma
ATM deletionATMCNAATM:del[ATR inhibitor][]ResponsiveCase reportENA 2015 (abstr A48)RDientsmann11/15COREADTRUEATR inhibitorsColorectal adenocarcinoma
ATM oncogenic mutationATMMUTATM:.[DNA-PKc inhibitor][]ResponsivePre-clinicalPMID:23761041RDientsmann11/15LYTRUEDNA-PKc inhibitorsLymphoma
ATM deletionATMCNAATM:del[DNA-PKc inhibitor][]ResponsivePre-clinicalPMID:23761041RDientsmann11/15LYTRUEDNA-PKc inhibitorsLymphoma
ATM oncogenic mutationATMMUTATM:.[PARP inhibitor][]ResponsiveEarly trialsENA 2014 (abstr 8LBA)RDientsmannSTTRUEPARP inhibitorsStomach
ATM deletionATMCNAATM:del[PARP inhibitor][]ResponsiveEarly trialsENA 2014 (abstr 8LBA)RDientsmannSTTRUEPARP inhibitorsStomach
ATM biallelic inactivationATMBIAATM:.IndirectClinical TrialsATR inhibitorAZD6738ResponsiveEarly trialsNCT01955668;https://ash.confex.com/ash/2014/webprogram/Paper71027.htmlECampoBCLTRUEAZD6738 (ATR inhibitor)B cell lymphoma
ATM oncogenic mutationATMMUTATM:.IndirectApprovedChemotherapyCisplatinResponsiveEarly trialsPMID:26238431ARodriguez-Vida09/15BLCABLCATRUECisplatin (Chemotherapy)Bladder
ATM deletionATMCNAATM:delIndirectApprovedChemotherapyCisplatinResponsiveEarly trialsPMID:26238431ARodriguez-Vida09/15BLCABLCATRUECisplatin (Chemotherapy)Bladder
ATM oncogenic mutationATMMUTATM:.ApprovedPARP inhibitorOlaparibResponsiveEarly trialsENA 2014 (abstr 8LBA)RDientsmann;RShadrina;SDemajo01/16STTRUEOlaparib (PARP inhibitor)Stomach
ATM oncogenic mutationATMMUTATM:.ChemotherapyTemozolomideResponsivePre-clinicalPMID:23960094RDientsmannGTRUETemozolomide (Chemotherapy)Glioma
ATR oncogenic mutationATRMUTATR:.IndirectApprovedPARP inhibitorOlaparibResponsivePre-clinicalCell linePMID:23548269CRubio-Perez;ECampo;RDientsmannOV;CANCERTRUEOlaparib (PARP inhibitor)Ovary;Any cancer type
ATR deletionATRCNAATR:delIndirectApprovedPARP inhibitorOlaparibResponsivePre-clinicalCell linePMID:23548269CRubio-Perez;ECampo;RDientsmannOV;CANCERTRUEOlaparib (PARP inhibitor)Ovary;Any cancer type
ATR oncogenic mutationATRMUTATR:.ChemotherapyTemozolomideResponsivePre-clinicalPMID:23960094RDientsmannGTRUETemozolomide (Chemotherapy)Glioma
AURKA amplificationAURKACNAAURKA:amp[AURK inhibitor][]ResponsivePre-clinicalPMID:22302096;PMID:22389870RDientsmannPRAD;CANCERTRUEAURK inhibitorsProstate adenocarcinoma;Any cancer type
IGF2 amplificationIGF2CNAIGF2:amp[EGFR mAb inhibitor][]ResistantEarly trialsPMID:25632036RDientsmannCOREADTRUEEGFR mAb inhibitorsColorectal adenocarcinoma
BAP1 oncogenic mutationBAP1MUTBAP1:.[EZH2 inhibitor][]ResponsivePre-clinicalPMID:26437366RDientsmann11/15MESOTRUEEZH2 inhibitorsMesothelioma
BAP1 deletionBAP1CNABAP1:del[EZH2 inhibitor][]ResponsivePre-clinicalPMID:26437366RDientsmann11/15MESOTRUEEZH2 inhibitorsMesothelioma
BAP1 oncogenic mutationBAP1MUTBAP1:.[HDAC inhibitor][]ResponsivePre-clinicalPMID:22038994RDientsmannCMTRUEHDAC inhibitorsCutaneous melanoma
BAP1 deletionBAP1CNABAP1:del[HDAC inhibitor][]ResponsivePre-clinicalPMID:22038994RDientsmannCMTRUEHDAC inhibitorsCutaneous melanoma
BAP1 oncogenic mutationBAP1MUTBAP1:.[PARP inhibitor][]ResponsivePre-clinicalPMID:22683710RDientsmannR;CANCERTRUEPARP inhibitorsRenal;Any cancer type
BAP1 deletionBAP1CNABAP1:del[PARP inhibitor][]ResponsivePre-clinicalPMID:22683710RDientsmannR;CANCERTRUEPARP inhibitorsRenal;Any cancer type
BCL2 overexpressionBCL2EXPRBCL2:overBCL2 inhibitor;Proteasome inhibitorVenetoclax;BortezomibResponsiveEarly trialsASH 2015 (Blood 2015 126:2975)CRubio-Perez02/17MMTRUEVenetoclax + Bortezomib (BCL2 inhibitor + Proteasome inhibitor)Multiple myeloma
BCL2 amplificationBCL2CNABCL2:amp[BCL2 inhibitor][]ResponsivePre-clinicalPMID:22649144RDientsmannLYTRUEBCL2 inhibitorsLymphoma
BCL6 overexpressionBCL6EXPRBCL6:overHSP90 inhibitorOnalespibResponsiveEarly trialsNCT02572453CRubio-Perez02/17LYTRUEOnalespib (HSP90 inhibitor)Lymphoma
BCOR oncogenic mutationBCORMUTBCOR:.PKCb inhibitorEnzastaurinResponsivePre-clinicalPMID:27397505RDientsmann07/16STTRUEEnzastaurin (PKCb inhibitor)Stomach
JAK1 oncogenic mutationJAK1MUTJAK1:.[PD1 inhibitor][]ResistantCase reportPMID:27903500RDientsmann07/17COREADTRUEPD1 inhibitorsColorectal adenocarcinoma
JAK1 oncogenic mutationJAK1MUTJAK1:.[PD1 inhibitor][]ResistantCase reportPMID:27433843RDientsmann07/16CMTRUEPD1 inhibitorsCutaneous melanoma
JAK2 oncogenic mutationJAK2MUTJAK2:.[PD1 inhibitor][]ResistantCase reportPMID:27433843RDientsmann07/16CMTRUEPD1 inhibitorsCutaneous melanoma
BRAF (V600E)BRAFMUTBRAF:V600E[BRAF inhibitor;CDK2/4 inhibitor][]ResponsivePre-clinicalPMID:22997239RDientsmann01/16CMTRUEBRAF inhibitor + CDK2/4 inhibitorsCutaneous melanoma
BRAF (V600)BRAFMUTBRAF:V600.[BRAF inhibitor;EGFR mAb inhibitor +/- PI3K inhibitor][]ResponsiveEarly trialsPMID:28363909RDientsmann07/17COREADTRUEBRAF inhibitor + EGFR mAb inhibitor +/- PI3K inhibitorsColorectal adenocarcinoma
BRAF (V600E)BRAFMUTBRAF:V600E[BRAF inhibitor;HSP90 inhibitor][]ResponsivePre-clinicalPMID:22351686RDientsmann01/16CMTRUEBRAF inhibitor + HSP90 inhibitorsCutaneous melanoma
BRAF (V600E)BRAFMUTBRAF:V600E[BRAF inhibitor;MEK inhibitor][]ResponsiveEarly trialsASCO 2013 (abstr 9029)RDientsmann01/16THTRUEBRAF inhibitor + MEK inhibitorsThyroid
BRAF fusionBRAFFUSBRAF__.[BRAF inhibitor;MEK inhibitor][]ResponsiveCase reportASCO 2017 (abstr 9072)RDientsmann07/17LUADTRUEBRAF inhibitor + MEK inhibitorsLung adenocarcinoma
BRAF (V600E)BRAFMUTBRAF:V600E[BRAF inhibitor;PI3K pathway inhibitor][]ResponsivePre-clinicalPMID:22389471;PMID:21156289RDientsmann01/16CMTRUEBRAF inhibitor + PI3K pathway inhibitorsCutaneous melanoma
BRAF (L597R)BRAFMUTBRAF:L597R[BRAF inhibitor][]ResponsiveCase reportPMID:23715574RDientsmann01/16CMTRUEBRAF inhibitorsCutaneous melanoma
BRAF (V600E)BRAFMUTBRAF:V600E[BRAF inhibitor][]ResponsivePre-clinicalPMID:22038996;PMID:22586120RDientsmannGTRUEBRAF inhibitorsGlioma
BRAF (V600E)BRAFMUTBRAF:V600E[BRAF inhibitor][]ResponsiveCase reportPMID:22608338RDientsmannOVTRUEBRAF inhibitorsOvary
KRAS oncogenic mutationKRASMUTKRAS:.[PI3K pathway inhibitor;MEK inhibitor][]No ResponsiveEarly trialsASCO 2015 (abstr 4119)RDientsmann01/16PATRUEPI3K pathway inhibitor + MEK inhibitorsPancreas
BRAF (V600E)BRAFMUTBRAF:V600E[ERK inhibitor][]ResponsivePre-clinicalPMID:23614898;PMID:22997239RDientsmann01/16CMTRUEERK inhibitorsCutaneous melanoma
BRAF (G469A)BRAFMUTBRAF:G469A[ERK inhibitor][]ResponsiveCase reportASCO 2017 (abstr 2508)RDientsmann07/17HNSCTRUEERK inhibitorsHead an neck squamous
BRAF (L485W)BRAFMUTBRAF:L485W[ERK inhibitor][]ResponsiveCase reportASCO 2017 (abstr 2508)RDientsmann07/17BTTRUEERK inhibitorsBilliary tract
BRAF (V600E)BRAFMUTBRAF:V600E[ERK inhibitor][]ResponsiveEarly trialsASCO 2017 (abstr 2508)RDientsmann07/17LUADTRUEERK inhibitorsLung adenocarcinoma
BRAF (V600E)BRAFMUTBRAF:V600E[MEK inhibitor][]ResponsiveEarly trialsPMID:22241789RDientsmann01/16THTRUEMEK inhibitorsThyroid
BRAF (V600E)BRAFMUTBRAF:V600E[MEK inhibitor][]ResponsivePre-clinicalPMID:19018267RDientsmannOVTRUEMEK inhibitorsOvary
BRAF inframe deletion (L485),inframe deletion (P490)BRAFMUTBRAF::consequence::inframe_deletion:L485.,::inframe_deletion:P490.[Pan-RAF inhibitor][]ResponsivePre-clinicalPMID:26732095RDientsmann04/16CANCERTRUEPan-RAF inhibitorsAny cancer type
BRAF (V600E)BRAFMUTBRAF:V600E[Pan-RAF inhibitor][]ResponsiveEarly trialsESMO 2015 (abstract 300);AACR 2016 (abstr CT005);AACR 2017 (abstr CT002)RDientsmann07/17CMTRUEPan-RAF inhibitorsCutaneous melanoma
BRAF fusionBRAFFUSBRAF__.[MEK inhibitor][Trametinib]ResponsivePre-clinicalPMID:24727320;PMID:24345920;PMID:20526349RDientsmannLUAD;CM;PRADTRUEMEK inhibitors (Trametinib,etc)Lung adenocarcinoma;Cutaneous melanoma;Prostate adenocarcinoma
BRAF (K601R,L597R,V600R)BRAFMUTBRAF:K601R,L597R,V600R[MEK inhibitor][Trametinib]ResponsiveCase reportPMID:23248257;PMID:22805292;PMID:23248257RDientsmannCMTRUEMEK inhibitors (Trametinib,etc)Cutaneous melanoma
KRAS (G13D)KRASMUTKRAS:G13DEGFR mAb inhibitorCetuximabNo ResponsiveLate trialsPMID:27114605RDientsmann06/16COREADTRUECetuximab (EGFR mAb inhibitor)Colorectal adenocarcinoma
BRAF (V600E)BRAFMUTBRAF:V600EBRAF inhibitorDabrafenibResponsiveEarly trialsPMID:23524406;PMID:22608338;ASCO 2013 (abstr 8009);ESMO 2014 (abstr LBA38_PR);PMID:20818844;PMID:23489023;PMID:27080216RDientsmann04/16LUAD;THTRUEDabrafenib (BRAF inhibitor)Lung adenocarcinoma;Thyroid
BRAF (V600E)BRAFMUTBRAF:V600EApprovedBRAF inhibitorDabrafenibResponsiveNCCN guidelinesNCCNCRubio-Perez06/16NSCLCTRUEDabrafenib (BRAF inhibitor)Non-small cell lung
BRAF (V600E)BRAFMUTBRAF:V600EApprovedBRAF inhibitorDabrafenibResponsiveFDA guidelinesFDACRubio-Perez;DTamborero;RDientsmannCMTRUEDabrafenib (BRAF inhibitor)Cutaneous melanoma
BRAF (V600E)BRAFMUTBRAF:V600EBRAF inhibitorDabrafenibResponsiveCase reportPMID:23470635;PMID:22608338RDientsmannGISTTRUEDabrafenib (BRAF inhibitor)Gastrointestinal stromal
BRAF (V600R)BRAFMUTBRAF:V600RBRAF inhibitorDabrafenibResponsiveEarly trialsPMID:23237741RDientsmannCMTRUEDabrafenib (BRAF inhibitor)Cutaneous melanoma
BRAF (V600E)BRAFMUTBRAF:V600EBRAF inhibitor;MEK inhibitorDabrafenib;TrametinibResponsiveEarly trialsPMID:26392102;ASCO 2015 (abstr 8006)RDientsmann01/16COREADTRUEDabrafenib + Trametinib (BRAF inhibitor + MEK inhibitor)Colorectal adenocarcinoma
BRAF (V600E)BRAFMUTBRAF:V600EBRAF inhibitor;MEK inhibitorDabrafenib;TrametinibResponsiveCase reportPMID:27048246RDientsmann07/16NEUTRUEDabrafenib + Trametinib (BRAF inhibitor + MEK inhibitor)Neuroendocrine
BRAF (V600E)BRAFMUTBRAF:V600EBRAF inhibitor;MEK inhibitorDabrafenib;TrametinibResponsiveFDA guidelinesPMID:27283860RDientsmann12/16LUADTRUEDabrafenib + Trametinib (BRAF inhibitor + MEK inhibitor)Lung adenocarcinoma
BRAF (V600E,V600K)BRAFMUTBRAF:V600E,V600KApprovedBRAF inhibitor;MEK inhibitorDabrafenib;TrametinibResponsiveFDA guidelinesFDARDientsmannCMTRUEDabrafenib + Trametinib (BRAF inhibitor + MEK inhibitor)Cutaneous melanoma
BRAF (G466V)BRAFMUTBRAF:G466VBCR-ABL inhibitor 2nd genDasatinibResponsivePre-clinicalPMID:22649091RDientsmannLUADTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Lung adenocarcinoma
BRAF (Y472C)BRAFMUTBRAF:Y472CBCR-ABL inhibitor 2nd genDasatinibResponsiveCase reportPMID:22649091RDientsmannLUADTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Lung adenocarcinoma
BRAF (V600)BRAFMUTBRAF:V600.TOPO1 inhibitor;BRAF inhibitor;EGFR mAb inhibitorIrinotecan;Vemurafenib;CetuximabResponsiveEarly trialsPMID:27729313RDientsmann07/17COREADTRUEIrinotecan + Vemurafenib + Cetuximab (TOPO1 inhibitor + BRAF inhibitor + EGFR mAb inhibitor)Colorectal adenocarcinoma
KRAS oncogenic mutationKRASMUTKRAS:.MEK inhibitorSelumetinibNo ResponsiveEarly trialsPMID:26802155RDientsmann04/16LTRUESelumetinib (MEK inhibitor)Lung
BRAF (V600)BRAFMUTBRAF:V600.IndirectApproved; Approved;Clinical TrialsEGFR mAb inhibitor;BRAF inhibitor;PI3K inhibitorPanitumumab;Dabrafenib;BYL719ResponsiveEarly trialsENA 2014 (abstr 11LBA)RDientsmann01/16COREADTRUEPanitumumab + Dabrafenib + BYL719 (EGFR mAb inhibitor + BRAF inhibitor + PI3K inhibitor)Colorectal adenocarcinoma
BRAF (V600E)BRAFMUTBRAF:V600EIndirectApproved; Approved;Clinical TrialsEGFR mAb inhibitor;BRAF inhibitor;MEK inhibitorPanitumumab;Dabrafenib;TrametinibResponsiveEarly trialsASCO 2014 (abstr 3515);ASCO 2015 (abstr 103)RDientsmann01/16COREADTRUEPanitumumab + Dabrafenib + Trametinib (EGFR mAb inhibitor + BRAF inhibitor + MEK inhibitor)Colorectal adenocarcinoma
BRAF (V600E)BRAFMUTBRAF:V600EBRAF inhibitorPLX4720ResponsivePre-clinicalCell linePMC3638050MMartínez09/15MATRUEPLX4720 (BRAF inhibitor)Malignant astrocytoma
BRAF fusionBRAFFUSBRAF__.MEK inhibitorSelumetinibResponsiveCase reportPMID:26324360RDientsmann01/16OVTRUESelumetinib (MEK inhibitor)Ovary
BRAF (V600E)BRAFMUTBRAF:V600EClinical TrialsMEK inhibitorSelumetinibResponsiveEarly trialsNCT01089101MMartínez09/15PGTRUESelumetinib (MEK inhibitor)Pediatric glioma
BRAF fusionBRAFFUSBRAF__.Pan-TK inhibitorSorafenibResponsivePre-clinicalPMID:238900088;PMID:20526349;PMID:24727320RDientsmannCM;LUAD;PRADTRUESorafenib (Pan-TK inhibitor)Cutaneous melanoma;Lung adenocarcinoma;Prostate adenocarcinoma
BRAF (D594G,G469E)BRAFMUTBRAF:D594G,G469EPan-TK inhibitorSorafenibResponsivePre-clinicalPMID:18794803RDientsmannCMTRUESorafenib (Pan-TK inhibitor)Cutaneous melanoma
BRAF (V600E,V600K)BRAFMUTBRAF:V600E,V600KApprovedMEK inhibitorTrametinibResponsiveFDA guidelinesFDACRubio-Perez;DTamborero;RDientsmann;SDemajoCMTRUEAlthough 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)NRASMUTNRAS:.12.,.13.,.59.,.61.,.117.,.146.ApprovedEGFR mAb inhibitorCetuximabResistantNCCN guidelinesPMID:24024839;PMID:20619739;PMID:23325582RDientsmannCOREADTRUECetuximab (EGFR mAb inhibitor)Colorectal adenocarcinoma
KRAS amplificationKRASCNAKRAS:amp[BRAF inhibitor;EGFR mAb inhibitor][]ResistantCase reportENA 2014 (abstr 428)RDientsmannCOREADTRUEBRAF inhibitor + EGFR mAb inhibitorsColorectal adenocarcinoma
BRAF (V600D,V600K,V600M,V600G,V600R)BRAFMUTBRAF:V600D,V600K,V600M,V600G,V600RApprovedBRAF inhibitorVemurafenibResponsiveNCCN guidelinesNCCNCRubio-Perez16/06CMTRUEVemurafenib (BRAF inhibitor)Cutaneous melanoma
BRAF (V600E)BRAFMUTBRAF:V600EApprovedBRAF inhibitorVemurafenibResponsiveCase reportPMID:22743296;PMID:22621641;PMID:23612012RDientsmann04/16LUAD;HCL;MYMATRUEVemurafenib (BRAF inhibitor)Lung adenocarcinoma;Hairy-Cell leukemia;Myeloma
BRAF (V600E)BRAFMUTBRAF:V600EApprovedBRAF inhibitorVemurafenibResponsiveEarly trialsPMID:22586120MMartínez09/15MATRUEVemurafenib (BRAF inhibitor)Malignant astrocytoma
BRAF (V600E)BRAFMUTBRAF:V600EApprovedBRAF inhibitorVemurafenibResponsiveFDA guidelinesFDACRubio-Perez;DTamborero;RDientsmannCMTRUEVemurafenib (BRAF inhibitor)Cutaneous melanoma
BRAF (V600E)BRAFMUTBRAF:V600EApprovedBRAF inhibitorVemurafenibResponsiveEarly trialsPMID:22608338;PMID:20818844;PMID:23489023RDientsmannTHCATRUEVemurafenib (BRAF inhibitor)Thyroid carcinoma
BRAF (V600E,V600D,V600K,V600M,V600G,V600R)BRAFMUTBRAF:V600E,V600D,V600K,V600M,V600G,V600RIndirectApprovedBRAF inhibitorVemurafenibResponsiveNCCN guidelinesPMID:26287849DTamboreroNSCLC;HISLC;HISECTRUEVemurafenib (BRAF inhibitor)Non-small cell lung;Lagerhans cell histiocytosis;Erdheim-Chester histiocytosis
BRAF (V600E,V600K)BRAFMUTBRAF:V600E,V600KApprovedBRAF inhibitor;MEK inhibitorVemurafenib;CobimetinibResponsiveFDA guidelinesFDARDientsmann11/15CMTRUEVemurafenib + Cobimetinib (BRAF inhibitor + MEK inhibitor)Cutaneous melanoma
BRAF (G469A) + EGFR oncogenic mutationBRAF;EGFRMUT;MUTBRAF:G469A;EGFR:.[EGFR TK inhibitor;MEK inhibitor][]ResponsivePre-clinicalPMID:22773810RDientsmann01/16LUADTRUEEGFR TK inhibitor + MEK inhibitorsLung adenocarcinoma
BRCA1 oncogenic mutationBRCA1MUTBRCA1:.[PARP inhibitor;Chemotherapy][]ResponsiveEarly trialsPMID:22307137;ASCO 2012 (abstr 1009)RDientsmann04/16OVTRUEPARP inhibitor + ChemotherapysOvary
BRCA1 oncogenic mutationBRCA1MUTBRCA1:.[PARP inhibitor][]ResponsiveCase reportPMID:25366685;PMID:25719666;PMID:19553641;PMID:25366685RDientsmannPATRUEPARP inhibitorsPancreas
BRCA1 deletionBRCA1CNABRCA1:del[PARP inhibitor][]ResponsivePre-clinicalPMID:22392482RDientsmannOVTRUEPARP inhibitorsOvary
BRCA1 oncogenic mutationBRCA1MUTBRCA1:.[WEE1 inhibitor][]ResponsiveCase reportPMID:25964244RDientsmannCANCERTRUEWEE1 inhibitorsAny cancer type
BRCA1 oncogenic mutationBRCA1MUTBRCA1:.[PARP inhibitor][Olaparib]ResponsiveEarly trialsPMID:20609467;PMID:25366685RDientsmann;JAlbanellBRCATRUEPARP inhibitors (Olaparib,etc)Breast adenocarcinoma
BRCA1 oncogenic mutationBRCA1MUTBRCA1:.ApprovedPARP inhibitorOlaparibResponsiveFDA guidelinesPMID:26510020;PMID: 32343890RDientsmann;RShadrina;SDemajo06/22PRADTRUEOlaparib (PARP inhibitor)Prostate adenocarcinoma
BRCA1 oncogenic mutationBRCA1MUTBRCA1:.ApprovedPARP inhibitorOlaparibResponsiveFDA guidelinesFDARDientsmann04/16OVTRUEOlaparib (PARP inhibitor)Ovary
BRCA1 oncogenic mutationBRCA1MUTBRCA1:.ChemotherapyPlatinum AgentResponsiveEarly trialsPMID:25847936RDientsmann01/16BRCATRUEPlatinum Agent (Chemotherapy)Breast adenocarcinoma
BRCA1 oncogenic mutationBRCA1MUTBRCA1:.ChemotherapyPlatinum AgentResponsiveLate trialsPMID:22406760;PMID:22711857RDientsmann04/16OVTRUEPlatinum Agent (Chemotherapy)Ovary
BRCA1 oncogenic mutationBRCA1MUTBRCA1:.ApprovedPARP inhibitorRucaparibResponsiveFDA guidelinesFDARDientsmann04/16OVTRUERucaparib (PARP inhibitor)Ovary
BRCA1 oncogenic mutationBRCA1MUTBRCA1:.PARP inhibitor;ChemotherapyVeliparib;CisplatinResponsiveEarly trialsPMID:26801247RDientsmann07/16BRCATRUEVeliparib + Cisplatin (PARP inhibitor + Chemotherapy)Breast adenocarcinoma
BRCA2 oncogenic mutationBRCA2MUTBRCA2:.[PARP inhibitor;Chemotherapy][]ResponsiveEarly trialsPMID:22307137;ASCO 2012 (abstr 1009)RDientsmann04/16OVTRUEPARP inhibitor + ChemotherapysOvary
BRCA2 oncogenic mutationBRCA2MUTBRCA2:.[PD1 Ab inhibitor][]ResponsiveCase reportPMID:26997480RDientsmann04/16CMTRUEPD1 Ab inhibitorsCutaneous melanoma
BRCA2 oncogenic mutationBRCA2MUTBRCA2:.IndirectApproved[PARP inhibitor][Olaparib]ResponsiveEarly trialsPMID:20609467JAlbanell;ARovira;RDientsmann09/15BRCATRUEPARP inhibitors (Olaparib,etc)Breast adenocarcinoma
BRCA2 deletionBRCA2CNABRCA2:del[PARP inhibitor][Olaparib]ResponsivePre-clinicalPMID:22392482RDientsmannOVTRUEPARP inhibitors (Olaparib,etc)Ovary
BRCA2 oncogenic mutationBRCA2MUTBRCA2:.IndirectApprovedPARP inhibitorOlaparibResponsiveFDA guidelinesPMID:26510020;PMID: 32343890;NCT01682772;http://cancerres.aacrjournals.org/content/75/15_Supplement/CT322RDientsmann;ARodriguez-Vida;RShadrina;SDemajo06/22PRADTRUEOlaparib (PARP inhibitor)Prostate adenocarcinoma
BRCA2 oncogenic mutationBRCA2MUTBRCA2:.ApprovedPARP inhibitorOlaparibResponsiveFDA guidelinesFDARDientsmannOVTRUEOlaparib (PARP inhibitor)Ovary
BRCA2 oncogenic mutationBRCA2MUTBRCA2:.ChemotherapyPlatinum AgentResponsiveEarly trialsPMID:25847936RDientsmann01/16BRCATRUEPlatinum Agent (Chemotherapy)Breast adenocarcinoma
BRCA2 oncogenic mutationBRCA2MUTBRCA2:.ChemotherapyPlatinum AgentResponsiveLate trialsPMID:22406760;PMID:22711857RDientsmann04/16OVTRUEPlatinum Agent (Chemotherapy)Ovary
BRCA2 oncogenic mutationBRCA2MUTBRCA2:.ChemotherapyPlatinum AgentResponsiveCase reportPMID:25719666RDientsmannPATRUEPlatinum Agent (Chemotherapy)Pancreas
BRCA2 oncogenic mutationBRCA2MUTBRCA2:.ApprovedPARP inhibitorRucaparibResponsiveFDA guidelinesFDARDientsmann04/16OVTRUERucaparib (PARP inhibitor)Ovary
BRCA2 oncogenic mutationBRCA2MUTBRCA2:.PARP inhibitor;ChemotherapyVeliparib;CisplatinResponsiveEarly trialsPMID:26801247RDientsmann07/16BRCATRUEVeliparib + Cisplatin (PARP inhibitor + Chemotherapy)Breast adenocarcinoma
KRAS amplificationKRASCNAKRAS:amp[BRAF inhibitor;MEK inhibitor][]ResistantCase reportENA 2014 (abstr 428)RDientsmannCOREADTRUEBRAF inhibitor + MEK inhibitorsColorectal adenocarcinoma
BRD4-C15orf55 fusionC15orf55FUSBRD4__C15orf55[BET inhibitor][]ResponsiveCase reportENA 2015 (abstr A49)RDientsmann11/15NMCTRUEBET inhibitorsNUT midline carcinoma
CA9 overexpressionCA9EXPRCA9:overIndirectApprovedPan-TK inhibitorSunitinibResponsivePre-clinicalCell linePMID:24086736ARodriguez-Vida09/15RTRUESunitinib (Pan-TK inhibitor)Renal
CBL (Y371H,C384R)CBLMUTCBL:Y371H,C384R[JAK inhibitor][]ResponsivePre-clinicalPMID:23696637RDientsmannMDPSTRUEJAK inhibitorsMyelodisplasic proliferative syndrome
CBL (Y371H,C384R)CBLMUTCBL:Y371H,C384RBCR-ABL inhibitor 2nd genDasatinibResponsivePre-clinicalPMID:23696637RDientsmannMDPSTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Myelodisplasic proliferative syndrome
CCND1 amplificationCCND1CNACCND1:amp[CDK4/6 inhibitor][]ResponsiveCase reportASCO 2014 (abstr 2528)RDientsmannCMTRUECDK4/6 inhibitorsCutaneous melanoma
CCND1 amplificationCCND1CNACCND1:amp[CDK4/6 inhibitor][]ResponsivePre-clinicalPMID:22471707RDientsmannCANCERTRUECDK4/6 inhibitorsAny cancer type
KRAS (12,13)KRASMUTKRAS:.12.,.13.ApprovedEGFR mAb inhibitorCetuximabResistantFDA guidelinesFDA guidelinesCRubio-PerezCOREADTRUECetuximab (EGFR mAb inhibitor)Colorectal adenocarcinoma
KRAS oncogenic mutationKRASMUTKRAS:.[EGFR inhibitor][]ResistantPre-clinicalPMID:19238210DTamboreroNSCLCTRUEEGFR inhibitorsNon-small cell lung
KRAS oncogenic mutationKRASMUTKRAS:.[EGFR mAb inhibitor][]ResistantPre-clinicalPMID:22614881;PMID:22290393RDientsmannSTTRUEEGFR mAb inhibitorsStomach
CCND2 amplificationCCND2CNACCND2:amp[CDK4/6 inhibitor][]ResponsivePre-clinicalPMID:22471707RDientsmannCANCERTRUECDK4/6 inhibitorsAny cancer type
CCND2 amplificationCCND2CNACCND2:ampIndirectApprovedCDK4/6 inhibitorPalbociclibResponsiveEarly trialsNCT02154490CRubio-Perez;DTamboreroLTRUEPalbociclib (CDK4/6 inhibitor)Lung
CCND3 amplificationCCND3CNACCND3:amp[CDK4/6 inhibitor][]ResponsivePre-clinicalPMID:22471707RDientsmannCANCERTRUECDK4/6 inhibitorsAny cancer type
CCNE1 amplificationCCNE1CNACCNE1:amp[CDK2 inhibitor][]ResponsivePre-clinicalPMID:22471707RDientsmannCANCERTRUECDK2 inhibitorsAny cancer type
CD274 (PD-L1) amplificationCD274CNACD274:amp[PD1 Ab inhibitor][]ResponsiveCase reportPMID:27942391RDientsmann07/17BCCTRUEPD1 Ab inhibitorsBasal cell carcinoma
CD274 (PD-L1) amplificationCD274CNACD274:amp[PDL1 inhibitor][]ResponsivePre-clinicalPMID:25079317RDientsmannCANCERTRUEPDL1 inhibitorsAny cancer type
CD274 (PD-L1) overexpressionCD274EXPRCD274:overDirectClinical TrialsPDL1 inhibitorAtezolizumabResponsiveEarly trialsNCT01375842;doi: 10.1093/annonc/mdu337.2ARodriguez-Vida09/15CM;R;CANCERBLCATRUEAtezolizumab (PDL1 inhibitor)Cutaneous melanoma;Renal;Any cancer type
CD274 (PD-L1) overexpressionCD274EXPRCD274:overIndirectClinical TrialsPD1 Ab inhibitorNivolumabResponsiveEarly trialsPMID:25452452ARodriguez-Vida09/15RRTRUENivolumab (PD1 Ab inhibitor)Renal
CD274 (PD-L1) overexpressionCD274EXPRCD274:overIndirectClinical TrialsPD1 AbPembrolizumabResponsiveEarly trialsNCT01848834ARodriguez-Vida09/15BLCABLCATRUEPembrolizumab (PD1 Ab)Bladder
CD69 undexpressionCD69EXPRCD69:underApprovedAlkylating agentBendamustineResponsivePre-clinicalCell linePMID:26701728CRubio-Perez01/16CLLTRUEIbrutinib and idelalisib as adjuvants (not added)Bendamustine (Alkylating agent)Chronic lymphocytic leukemia
CDH1 oncogenic mutationCDH1MUTCDH1:.AR inhibitorBicalutamideResponsivePre-clinicalPMID:27397505RDientsmann07/16BRCATRUEBicalutamide (AR inhibitor)Breast adenocarcinoma
CDK12 oncogenic mutationCDK12MUTCDK12:.[PARP inhibitors][]ResponsivePre-clinicalPMID:24240700;PMID:24554720RDientsmann12/16OVTRUEPARP inhibitorsOvary
CDK12 amplificationCDK12CNACDK12:amp[PARP inhibitors][]ResponsivePre-clinicalPMID:24240700;PMID:24554720RDientsmann12/16OVTRUEPARP inhibitorsOvary
CDK4 oncogenic mutationCDK4MUTCDK4:.DirectClinical TrialsCDK4/6 inhibitorLEE011ResponsiveEarly trialsNCT02187783;NCT01237236; http://meetinglibrary.asco.org/content/83791-102CRubio-Perez;DTamboreroLIP;LY;CANCERTRUELEE011 (CDK4/6 inhibitor)Liposarcoma;Lymphoma;Any cancer type
CDK4 amplificationCDK4CNACDK4:ampDirectClinical TrialsCDK4/6 inhibitorLEE011ResponsiveEarly trialsNCT02187783;NCT01237236; http://meetinglibrary.asco.org/content/83791-102CRubio-Perez;DTamboreroLIP;LY;CANCERTRUELEE011 (CDK4/6 inhibitor)Liposarcoma;Lymphoma;Any cancer type
CDK4 amplification + RB1 expressionCDK4;RB1CNA;EXPRCDK4:amp;RB1:norm[CDK4 inhibitor][]ResponsiveEarly trialsPMID:23569312RDientsmannLIPTRUECDK4 inhibitorsLiposarcoma
CDK6 amplificationCDK6CNACDK6:amp[CDK6 inhibitor][]ResponsivePre-clinicalPMID:22471707RDientsmannCANCERTRUECDK6 inhibitorsAny cancer type
CDK6 oncogenic mutationCDK6MUTCDK6:.DirectClinical TrialsCDK4/6 inhibitorLEE011ResponsiveEarly trialsNCT02187783;NCT01237236CRubio-Perez;DTamboreroLIP;LY;CANCERTRUELEE011 (CDK4/6 inhibitor)Liposarcoma;Lymphoma;Any cancer type
CDK6 amplificationCDK6CNACDK6:ampDirectClinical TrialsCDK4/6 inhibitorLEE011ResponsiveEarly trialsNCT02187783;NCT01237236;http://meetinglibrary.asco.org/content/83791-102CRubio-Perez;DTamboreroLIP;LY;CANCERTRUELEE011 (CDK4/6 inhibitor)Liposarcoma;Lymphoma;Any cancer type
CDKN1A oncogenic mutationCDKN1AMUTCDKN1A:.[CDK2/4 inhibitor][]ResponsivePre-clinicalPMID:22471707;PMID:22997239RDientsmannCANCERTRUECDK2/4 inhibitorsAny cancer type
CDKN1A deletionCDKN1ACNACDKN1A:del[CDK2/4 inhibitor][]ResponsivePre-clinicalPMID:22471707;PMID:22997239RDientsmannCANCERTRUECDK2/4 inhibitorsAny cancer type
CDKN1B oncogenic mutationCDKN1BMUTCDKN1B:.[CDK2/4 inhibitor][]ResponsivePre-clinicalPMID:22471707RDientsmannCANCERTRUECDK2/4 inhibitorsAny cancer type
CDKN1B deletionCDKN1BCNACDKN1B:del[CDK2/4 inhibitor][]ResponsivePre-clinicalPMID:22471707RDientsmannCANCERTRUECDK2/4 inhibitorsAny cancer type
CDKN2A oncogenic mutationCDKN2AMUTCDKN2A:.[CDK4/6 inhibitor][]ResponsiveCase reportASCO 2013 (abstr 2500)RDientsmannCMTRUECDK4/6 inhibitorsCutaneous melanoma
CDKN2A oncogenic mutationCDKN2AMUTCDKN2A:.[CDK4/6 inhibitor][]ResponsivePre-clinicalPMID:22471707;PMID:22586120;PMID:22711607RDientsmannG;CANCERTRUECDK4/6 inhibitorsGlioma;Any cancer type
CDKN2A deletionCDKN2ACNACDKN2A:del[CDK4/6 inhibitor][]ResponsiveCase reportASCO 2013 (abstr 2500)RDientsmannCMTRUECDK4/6 inhibitorsCutaneous melanoma
CDKN2A deletionCDKN2ACNACDKN2A:del[CDK4/6 inhibitor][]ResponsivePre-clinicalPMID:22471707;PMID:22586120;PMID:22711607RDientsmannG;CANCERTRUECDK4/6 inhibitorsGlioma;Any cancer type
CDKN2A oncogenic mutationCDKN2AMUTCDKN2A:.IndirectClinical TrialsAURKA-VEGF inhibitorIlorasertibResponsiveEarly trialsNCT02478320CRubio-Perez;DTamboreroCANCERTRUEIlorasertib (AURKA-VEGF inhibitor)Any cancer type
CDKN2A deletionCDKN2ACNACDKN2A:delIndirectClinical TrialsAURKA-VEGF inhibitorIlorasertibResponsiveEarly trialsNCT02478320CRubio-Perez;DTamboreroCANCERTRUEIlorasertib (AURKA-VEGF inhibitor)Any cancer type
CDKN2B oncogenic mutationCDKN2BMUTCDKN2B:.[CDK4/6 inhibitor][]ResponsivePre-clinicalPMID:22471707;PMID:22711607RDientsmannG;CANCERTRUECDK4/6 inhibitorsGlioma;Any cancer type
CDKN2B deletionCDKN2BCNACDKN2B:del[CDK4/6 inhibitor][]ResponsivePre-clinicalPMID:22471707;PMID:22711607RDientsmannG;CANCERTRUECDK4/6 inhibitorsGlioma;Any cancer type
CDKN2C oncogenic mutationCDKN2CMUTCDKN2C:.[CDK2 inhibitor][]ResponsivePre-clinicalPMID:22471707;PMID:22997239;PMID:22711607RDientsmannG;CANCERTRUECDK2 inhibitorsGlioma;Any cancer type
CDKN2C deletionCDKN2CCNACDKN2C:del[CDK2 inhibitor][]ResponsivePre-clinicalPMID:22471707;PMID:22997239;PMID:22711607RDientsmannG;CANCERTRUECDK2 inhibitorsGlioma;Any cancer type
CHEK2 oncogenic mutationCHEK2MUTCHEK2:.ApprovedPARP inhibitorOlaparibResponsiveFDA guidelinesPMID: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:32343890RDientsmann; RShadrina;SDemajo07/22PRADTRUEOlaparib (PARP inhibitor)Prostate adenocarcinoma
CHEK2 deletionCHEK2CNACHEK2:delPARP inhibitorOlaparibResponsiveEarly trialsAACR 2015 (abstr CT322)RDientsmannPRADTRUEOlaparib (PARP inhibitor)Prostate adenocarcinoma
MAP2K1 (P124)MAP2K1MUTMAP2K1:P124.[BRAF inhibitor][]ResistantEarly trialsPMID:25370473RDientsmannCMTRUEBRAF inhibitorsCutaneous melanoma
MAP2K1 (Q56P,P124S,P124L;C121S)MAP2K1MUTMAP2K1:Q56P,P124S,P124L,C121S[BRAF inhibitor][]ResistantCase reportPMID:19915144;PMID:21383288RDientsmann;DTamborero03/16CMTRUEBRAF inhibitorsCutaneous melanoma
MAP2K1 oncogenic mutationMAP2K1MUTMAP2K1:.[EGFR mAb inhibitor][]ResistantCase reportPMID:26030179RDientsmannCOREADTRUEEGFR mAb inhibitorsColorectal adenocarcinoma
MAP2K1 (I99T,L115,G128D,F129L,V211D,L215P,I103N,K104N,I111N,H119P,E120D,F133L,P124,D67N)MAP2K1MUTMAP2K1:I99T,L115.,G128D,F129L,V211D,L215P,I103N,K104N,I111N,H119P,E120D,F133L,P124.,D67N[MEK inhibitor][]ResistantPre-clinicalPMID:19915144RDientsmannCANCERTRUEReference added by carlotaMEK inhibitorsAny cancer type
MAP2K1 (P124L,K57N,C121S)MAP2K1MUTMAP2K1:P124L,K57N,C121S[MEK inhibitor][]ResistantCase reportPMID:19915144;PMID:23444215;PMID:21383288RDientsmannCMTRUEMEK inhibitorsCutaneous melanoma
MAP2K1 (Q56P,P124S,P124L)MAP2K1MUTMAP2K1:Q56P,P124S,P124L[MEK inhibitor][]ResistantCase reportPMID:19915144DTamborero03/16CMTRUEMEK inhibitorsCutaneous melanoma
CRLF2 fusionCRLF2FUSCRLF2__.[BET inhibitor][]ResponsivePre-clinicalPMID:22904298RDientsmann01/16ALLTRUEBET inhibitorsAcute lymphoblastic leukemia
CRLF2 fusionCRLF2FUSCRLF2__.[MTOR inhibitor][]ResponsivePre-clinicalPMID:22955920RDientsmann01/16ALLTRUEMTOR inhibitorsAcute lymphoblastic leukemia
CSF1R (Y571D)CSF1RMUTCSF1R:Y571DBCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResponsivePre-clinicalPMID:18971950RDientsmannMDPSTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Myelodisplasic proliferative syndrome
CSF3R frameshift variant (D771),frameshift variant (S783)CSF3RMUTCSF3R::consequence::frameshift_variant:D771.,::frameshift_variant:S783.BCR-ABL inhibitor 2nd genDasatinibResponsivePre-clinicalPMID:23656643RDientsmann01/16ACMLTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Atypical chronic myeloid leukemia
MAP2K2 (Q60P)MAP2K2MUTMAP2K2:Q60P[BRAF inhibitor][]ResistantCase reportPMID:24265154RDientsmannCMTRUEBRAF inhibitorsCutaneous melanoma
CTNNB1 (H36Y,S37C,S37Y,D32V)CTNNB1MUTCTNNB1:H36Y,S37C,S37Y,D32VMTOR inhibitor;Hormonal therapyEverolimus;LetrozoleResponsiveEarly trialsPMID:25624430RDientsmannEDTRUEEverolimus + Letrozole (MTOR inhibitor + Hormonal therapy)Endometrium
CYP17A1 expressionCYP17A1EXPRCYP17A1:normDirectApprovedAR inhibitorAbirateroneResponsiveEarly trialsPMID:22184395ARodriguez-Vida09/15PRADPRADTRUEAbiraterone (AR inhibitor)Prostate adenocarcinoma
CYP17A1 expressionCYP17A1EXPRCYP17A1:normIndirectApprovedAR inhibitorEnzalutamideResponsiveEarly trialsPMID:24882673ARodriguez-Vida09/15PRADPRADTRUEEnzalutamide (AR inhibitor)Prostate adenocarcinoma
MAP2K2 (V35M,L46F,N126D,C125S)MAP2K2MUTMAP2K2:V35M,L46F,N126D,C125S[BRAF inhibitor][]ResistantPre-clinicalPMID:24265153RDientsmannCMTRUEBRAF inhibitorsCutaneous melanoma
DDR2 (I638F,L239R,G253C,G774V,L63V,G505S)DDR2MUTDDR2:I638F,L239R,G253C,G774V,L63V,G505SBCR-ABL inhibitor 2nd genDasatinibResponsivePre-clinicalPMID:22328973RDientsmannLUSCTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Lung squamous cell
DDR2 (S768R)DDR2MUTDDR2:S768RBCR-ABL inhibitor 2nd genDasatinibResponsiveCase reportPMID:22328973RDientsmannLUSCTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Lung squamous cell
DDR2 (S768R)DDR2MUTDDR2:S768REGFR inhibitor 1st genErlotinibResponsiveCase reportPMID:22328973RDientsmannLUSCTRUEErlotinib (EGFR inhibitor 1st gen)Lung squamous cell
DNMT3A oncogenic mutationDNMT3AMUTDNMT3A:.ApprovedChemotherapyDaunorubicinResponsiveFDA guidelinesPMID:22417203RDientsmannAMLTRUEDaunorubicin (Chemotherapy)Acute myeloid leukemia
DPYD splice donor variantDPYDMUTDPYD::consequence::splice_donor_variant:.ApprovedFluoropyrimidineCapecitabineIncreased ToxicityFDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUECapecitabine (Fluoropyrimidine)Any cancer type
DPYD biallelic inactivationDPYDBIADPYD:.ApprovedFluoropyrimidineCapecitabineIncreased ToxicityFDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUECapecitabine (Fluoropyrimidine)Any cancer type
DPYD (I560S,D949V)DPYDMUTDPYD:I560S,D949VApprovedFluoropyrimidineCapecitabineIncreased ToxicityFDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUECapecitabine (Fluoropyrimidine)Any cancer type
DPYD splice donor variantDPYDMUTDPYD::consequence::splice_donor_variant:.ApprovedFluoropyrimidineFlourouracilIncreased ToxicityFDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUEFlourouracil (Fluoropyrimidine)Any cancer type
DPYD biallelic inactivationDPYDBIADPYD:.ApprovedFluoropyrimidineFlourouracilIncreased ToxicityFDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUEFlourouracil (Fluoropyrimidine)Any cancer type
DPYD (I560S,D949V)DPYDMUTDPYD:I560S,D949VApprovedFluoropyrimidineFlourouracilIncreased ToxicityFDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUEFlourouracil (Fluoropyrimidine)Any cancer type
DPYD splice donor variantDPYDMUTDPYD::consequence::splice_donor_variant:.ApprovedFluoropyrimidineTegafurIncreased ToxicityCPIC guidelinesPMID:23988873DTamborero;CRubio-Perez01/16CANCERTRUETegafur (Fluoropyrimidine)Any cancer type
DPYD biallelic inactivationDPYDBIADPYD:.ApprovedFluoropyrimidineTegafurIncreased ToxicityCPIC guidelinesPMID:23988873DTamborero;CRubio-Perez01/16CANCERTRUETegafur (Fluoropyrimidine)Any cancer type
DPYD (I560S,D949V)DPYDMUTDPYD:I560S,D949VApprovedFluoropyrimidineTegafurIncreased ToxicityCPIC guidelinesPMID:23988873DTamborero;CRubio-Perez01/16CANCERTRUETegafur (Fluoropyrimidine)Any cancer type
MAP2K2 (Q60P)MAP2K2MUTMAP2K2:Q60P[MEK inhibitor][]ResistantCase reportPMID:24265154RDientsmannCMTRUEMEK inhibitorsCutaneous melanoma
MAP2K2 (V35M,L46F,N126D,C125S)MAP2K2MUTMAP2K2:V35M,L46F,N126D,C125S[MEK inhibitor][]ResistantPre-clinicalPMID:24265153RDientsmannCMTRUEMEK inhibitorsCutaneous melanoma
MCL1 amplificationMCL1CNAMCL1:amp[Tubulin inhibitor][]ResistantPre-clinicalPMID:21368834RDientsmannCANCERTRUETubulin inhibitorsAny cancer type
MET amplificationMETCNAMET:amp[EGFR inhibitor 1st gen][]ResistantEarly trialsPMID:22189054;PMID:23729478DTamboreroNSCLC;COREADTRUEEGFR inhibitor 1st gensNon-small cell lung;Colorectal adenocarcinoma
MET amplificationMETCNAMET:amp[EGFR mAb inhibitor][]ResistantEarly trialsPMID:23729478RDientsmannCOREADTRUEEGFR mAb inhibitorsColorectal adenocarcinoma
MET (D1246V)METMUTMET:D1246V[MET inhibitor][]ResistantCase reportPMID:27694386RDientsmann07/17LUADTRUEMET inhibitorsLung adenocarcinoma
MET amplification + EGFR oncogenic mutationMET;EGFRCNA;MUTMET:amp;EGFR:.[EGFR TK inhibitor][]ResistantEarly trialsASCO 2015 (abstr 8089)RDientsmann01/16LUADTRUEEGFR TK inhibitorsLung adenocarcinoma
MITF amplificationMITFCNAMITF:amp[BRAF inhibitor][]ResistantCase reportPMID:24265153RDientsmann01/16CMTRUEBRAF inhibitorsCutaneous melanoma
MITF amplificationMITFCNAMITF:amp[BRAF inhibitor][]ResistantCase reportPMID:24265153RDientsmannCMTRUEBRAF inhibitorsCutaneous melanoma
MYCN amplificationMYCNCNAMYCN:amp[SMO inhibitor][]ResistantPre-clinicalPMID:24951114DTamborero;RDientsmannMBTRUESMO inhibitorsMedulloblastoma
NF1 oncogenic mutationNF1MUTNF1:.[Retinoic Acid][]ResistantPre-clinicalPMID:20655465RDientsmann07/16NBTRUERetinoic AcidsNeuroblastoma
EGFR (T790M)EGFRMUTEGFR:T790M[EGFR inhibitor 3rd gen][]ResponsiveEarly trialsASCO 2014 (abstr 8009);ENA 2014 (abstr 10LBA);ENA 2014 (abstr 9LBA);ASCO 2015 (abstr 8001)RDientsmann01/16LTRUEEGFR inhibitor 3rd gensLung
EGFR amplificationEGFRCNAEGFR:amp[EGFR inhibitor][]ResponsiveCase reportPMID:26763254RDientsmann07/16HNSCTRUEEGFR inhibitorsHead an neck squamous
EGFR amplificationEGFRCNAEGFR:amp[EGFR mAb inhibitor][]ResponsiveLate trialsPMID:18794099;PMID:17664472RDientsmannCOREADTRUEEGFR mAb inhibitorsColorectal adenocarcinoma
EGFR exon 19 insertionsEGFRMUTEGFR::consequence::inframe_insertion:729-761[EGFR TK inhibitor][]ResponsiveLate trialsPMID:22753918RDientsmann01/16LTRUEEGFR TK inhibitorsLung
EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R)EGFRMUTEGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R[EGFR TK inhibitor][]ResponsiveLate trialsPMID:22753918RDientsmann01/16LTRUEEGFR TK inhibitorsLung
EGFR exon 19 insertionsEGFRMUTEGFR::consequence::inframe_insertion:729-761[HSP90 inhibitor][]ResponsiveEarly trialsESMO 2012 (abstr 4380)RDientsmann01/16LTRUEHSP90 inhibitorsLung
EGFR exon 20 insertionsEGFRMUTEGFR::consequence::inframe_insertion:762-823[HSP90 inhibitor][]ResponsiveCase reportASCO 2014 (abstr 8015)RDientsmann01/16LTRUEHSP90 inhibitorsLung
EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R)EGFRMUTEGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R[HSP90 inhibitor][]ResponsiveEarly trialsESMO 2012 (abstr 4380)RDientsmann01/16LTRUEHSP90 inhibitorsLung
EGFR (T790M)EGFRMUTEGFR:T790M[HSP90 inhibitor][]ResponsiveEarly trialsESMO 2012 (abstr 4380)RDientsmann01/16LTRUEHSP90 inhibitorsLung
EGFR exon 19 insertionsEGFRMUTEGFR::consequence::inframe_insertion:729-761[MEK inhibitor (alone or in combination)][]ResponsivePre-clinicalPMID:23102728RDientsmann01/16LTRUEMEK inhibitor (alone or in combination)sLung
EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M)EGFRMUTEGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M[MEK inhibitor (alone or in combination)][]ResponsivePre-clinicalPMID:23102728RDientsmann01/16LTRUEMEK inhibitor (alone or in combination)sLung
EGFR (S492R)EGFRMUTEGFR:S492R[novel EGFR mAb inhibitor][]ResponsiveEarly trialsPMID:25962717RDientsmann01/16COREADTRUEnovel EGFR mAb inhibitorsColorectal adenocarcinoma
EGFR (T790M)EGFRMUTEGFR:T790M[EGFR inhibitor 3rd gen][Rociletinib,HM61713]ResponsiveLate trialsNCT02322281CRubio-Perez;RDientsmann01/16NSCLCTRUEEGFR inhibitor 3rd gens (Rociletinib,HM61713,etc)Non-small cell lung
EGFR exon 19 deletionsEGFRMUTEGFR::consequence::inframe_deletion:729-761ApprovedERBB2 inhibitor&EGFR inhibitor 2nd genAfatinibResponsiveFDA guidelinesFDARDientsmannNSCLCTRUEAfatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen)Non-small cell lung
EGFR exon 19 insertionsEGFRMUTEGFR::consequence::inframe_insertion:729-761ERBB2 inhibitor&EGFR inhibitor 2nd genAfatinibResponsiveLate trialsPMID:22753918;PMID:25589191RDientsmann01/16LTRUEAfatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen)Lung
EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R)EGFRMUTEGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861RApprovedERBB2 inhibitor&EGFR inhibitor 2nd genAfatinibResponsiveFDA guidelinesFDARDientsmannNSCLCTRUEAfatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen)Non-small cell lung
EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R)EGFRMUTEGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861RApprovedERBB2 inhibitor&EGFR inhibitor 2nd genAfatinibResponsiveNCCN guidelinesFDARDientsmannNSCLCTRUEAfatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen)Non-small cell lung
NF1 deletionNF1CNANF1:del[Retinoic Acid][]ResistantPre-clinicalPMID:20655465RDientsmann07/16NBTRUERetinoic AcidsNeuroblastoma
EGFR exon 19 insertionsEGFRMUTEGFR::consequence::inframe_insertion:729-761ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitorAfatinib;CetuximabResponsiveEarly trialsESMO 2012 (abstr 1289)RDientsmann01/16LTRUEAfatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor)Lung
EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R)EGFRMUTEGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861RERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitorAfatinib;CetuximabResponsiveEarly trialsESMO 2012 (abstr 1289)RDientsmann01/16LTRUEAfatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor)Lung
EGFR (T790M)EGFRMUTEGFR:T790MERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitorAfatinib;CetuximabResponsiveEarly trialsPMID:25074459RDientsmann01/16LTRUEAfatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor)Lung
EGFR (T790M)EGFRMUTEGFR:T790MERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitorAfatinib;NimotuzumabResponsiveEarly trialsPMID:26667485RDientsmann06/16LTRUEAfatinib + Nimotuzumab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor)Lung
EGFR overexpressionEGFREXPREGFR:overApprovedEGFR mAb inhibitorCetuximabResponsiveFDA guidelinesFDACRubio-PerezCOREADTRUECetuximab (EGFR mAb inhibitor)Colorectal adenocarcinoma
EGFR (P546S)EGFRMUTEGFR:P546SEGFR mAb inhibitorCetuximabResponsiveCase reportPMID:23578570RDientsmann01/16HNCTRUECetuximab (EGFR mAb inhibitor)Head an neck
EGFR (P753S)EGFRMUTEGFR:P753SEGFR mAb inhibitor;MTOR inhibitorCetuximab;SirolimusResponsiveCase reportPMID:24934779RDientsmann01/16HNCTRUECetuximab + Sirolimus (EGFR mAb inhibitor + MTOR inhibitor)Head an neck
EGFR-RAD51 fusionEGFRFUSEGFR__RAD51ApprovedEGFR inhibitor 1st genErlotinibResponsiveCase reportPMID:27102076EArriola06/16NSCLCTRUEErlotinib (EGFR inhibitor 1st gen)Non-small cell lung
EGFR-RAD51 fusionEGFRFUSEGFR__RAD51EGFR inhibitor 1st genErlotinibResponsiveCase reportPMID:27102076RDientsmann07/16LTRUEErlotinib (EGFR inhibitor 1st gen)Lung
EGFR exon 19 deletionsEGFRMUTEGFR::consequence::inframe_deletion:729-761ApprovedEGFR inhibitor 1st genErlotinibResponsiveFDA guidelinesFDARDientsmannNSCLCTRUEexon 19 deletionsErlotinib (EGFR inhibitor 1st gen)Non-small cell lung
EGFR exon 19 insertionsEGFRMUTEGFR::consequence::inframe_insertion:729-761ApprovedEGFR inhibitor 1st genErlotinibResponsiveEarly trialsPMID:22190593RDientsmannLTRUEErlotinib (EGFR inhibitor 1st gen)Lung
EGFR inframe insertion (769-770)EGFRMUTEGFR::consequence::inframe_insertion:769-770EGFR inhibitor 1st genErlotinibResponsiveCase reportPMID:26773740;PMID:23328547RDientsmann12/16LTRUEErlotinib (EGFR inhibitor 1st gen)Lung
EGFR (A289V,R108K,G598V,T263P)EGFRMUTEGFR:A289V,R108K,G598V,T263PApprovedEGFR inhibitor 1st genErlotinibResponsivePre-clinicalPMID:17177598RDientsmannGTRUEErlotinib (EGFR inhibitor 1st gen)Glioma
NRAS (Q61)NRASMUTNRAS:Q61.[BRAF inhibitor][]ResistantEarly trialsPMID:23569304;PMID:24265153RDientsmann01/16CMTRUEBRAF inhibitorsCutaneous melanoma
EGFR (K757R,E746G)EGFRMUTEGFR:K757R,E746GEGFR inhibitor 1st genErlotinibResponsiveCase reportPMID:26773740RDientsmann12/16LTRUEErlotinib (EGFR inhibitor 1st gen)Lung
EGFR (L858R)EGFRMUTEGFR:L858RApprovedEGFR inhibitor 1st genErlotinibResponsiveFDA guidelinesFDARDientsmannNSCLCTRUEErlotinib (EGFR inhibitor 1st gen)Non-small cell lung
EGFR (L858R,L861,G719,S768I)EGFRMUTEGFR:L858R,L861.,G719.,S768IApprovedEGFR inhibitor 1st genErlotinibResponsiveNCCN guidelinesNCCNRDientsmannNSCLCTRUEErlotinib (EGFR inhibitor 1st gen)Non-small cell lung
PDGFRA amplificationPDGFRACNAPDGFRA:amp[PDGFR inhibitor][]No ResponsivePre-clinicalPMID:23544171RDientsmannGTRUEPDGFR inhibitorsGlioma
PIK3CA (E545*)PIK3CAMUTPIK3CA:E545*[BRAF inhibitor][]ResistantCase reportPMC3936420DTamborero03/16CMTRUEBRAF inhibitorsCutaneous melanoma
EGFR exon 19 deletionsEGFRMUTEGFR::consequence::inframe_deletion:729-761ApprovedEGFR inhibitor 1st genGefitinibResponsiveFDA guidelinesFDARDientsmannNSCLCTRUEGefitinib (EGFR inhibitor 1st gen)Non-small cell lung
PIK3CA amplificationPIK3CACNAPIK3CA:amp[PI3K pathway inhibitor][]ResistantPre-clinicalPMID:24366379RDientsmannBRCATRUEPI3K pathway inhibitorsBreast adenocarcinoma
PIK3CA oncogenic mutationPIK3CAMUTPIK3CA:.[PI3K pathway inhibitor][]No ResponsiveEarly trialsASCO 2017 (abstr 9054)RDientsmann07/17LTRUEPI3K pathway inhibitorsLung
EGFR amplificationEGFRCNAEGFR:ampApprovedEGFR inhibitor 1st genGefitinibResponsiveLate trialsPMID:24950987RDientsmannEDTRUEGefitinib (EGFR inhibitor 1st gen)Endometrium
EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R)EGFRMUTEGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861RApprovedEGFR inhibitor 1st genGefitinibResponsiveFDA guidelinesFDARDientsmannNSCLCTRUEGefitinib (EGFR inhibitor 1st gen)Non-small cell lung
EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R)EGFRMUTEGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861RApprovedEGFR inhibitor 1st genGefitinibResponsiveNCCN guidelinesFDARDientsmannNSCLCTRUEGefitinib (EGFR inhibitor 1st gen)Non-small cell lung
PIK3CB (D1067Y)PIK3CBMUTPIK3CB:D1067Y[PI3K pathway inhibitor][]ResistantCase reportPMID:26759240RDientsmann04/16BRCATRUEPI3K pathway inhibitorsBreast adenocarcinoma
EGFR (E690K)EGFRMUTEGFR:E690KApprovedERBB2 inhibitorLapatinibResponsiveCase reportPMID:22885469RDientsmannEDTRUELapatinib (ERBB2 inhibitor)Endometrium
EGFR exon 19 deletionsEGFRMUTEGFR::consequence::inframe_deletion:729-761ApprovedEGFR inhibitor 3rd genOsimertinibResponsiveEarly trialsNCT02465060CRubio-Perez01/16LTRUEOsimertinib (EGFR inhibitor 3rd gen)Lung
EGFR exon 20 insertionsEGFRMUTEGFR::consequence::inframe_insertion:762-823ApprovedEGFR inhibitor 3rd genOsimertinibResponsiveNCCN guidelinesPMID:26515464RDientsmann12/16LTRUEInsertion exon 20Osimertinib (EGFR inhibitor 3rd gen)Lung
PTEN oncogenic mutationPTENMUTPTEN:.[EGFR mAb inhibitor][]ResistantLate trialsPMID:21163703;PMID:19398573RDientsmannCOREADTRUEEGFR mAb inhibitorsColorectal adenocarcinoma
PTEN deletionPTENCNAPTEN:del[EGFR mAb inhibitor][]ResistantLate trialsPMID:21163703;PMID:19398573RDientsmannCOREADTRUEEGFR mAb inhibitorsColorectal adenocarcinoma
PTEN oncogenic mutationPTENMUTPTEN:.[MTOR inhibitor][]No ResponsiveEarly trialsPMID:21788564;PMID:23238879RDientsmann01/16EDTRUEMTOR inhibitorsEndometrium
EGFR (L858R)EGFRMUTEGFR:L858RApprovedEGFR inhibitor 3rd genOsimertinibResponsiveNCCN guidelinesNCCN Non-Small Cell Lung Cancer 2022;PMID:30659024CRubio-Perez;RShadrina;SDemajo01/16NSCLCTRUEOsimertinib (EGFR inhibitor 3rd gen)Non-Small Cell Lung Cancer
EGFR (T790M)EGFRMUTEGFR:T790MApprovedEGFR inhibitor 3rd genOsimertinibResponsiveFDA guidelinesFDARDientsmann01/16NSCLCTRUEOsimertinib (EGFR inhibitor 3rd gen)Non-small cell lung
PTEN deletionPTENCNAPTEN:del[MTOR inhibitor][]No ResponsiveEarly trialsPMID:21788564;PMID:23238879RDientsmann01/16EDTRUEMTOR inhibitorsEndometrium
PTEN oncogenic mutation + BRAF oncogenic mutationPTEN;BRAFMUT;MUTPTEN:.;BRAF:.[BRAF inhibitor][]ResistantEarly trialshttp://ascopubs.org/doi/abs/10.1200/PO.16.00054RDientsmann07/17CMTRUEBRAF inhibitorsCutaneous melanoma
EGFR (S492R)EGFRMUTEGFR:S492REGFR mAb inhibitorPanitumumabResponsiveCase reportPMID:22270724RDientsmann01/16COREADTRUEPanitumumab (EGFR mAb inhibitor)Colorectal adenocarcinoma
EGFR inframe deletion (6-273)EGFRMUTEGFR::consequence::inframe_deletion:6-273IndirectClinical TrialsVaccineRindopepimutResponsiveLate trialsNCT01480479MMartínez09/15GBTRUEhe 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 mutationPTEN;BRAFCNA;MUTPTEN:del;BRAF:.[BRAF inhibitor][]ResistantEarly trialshttp://ascopubs.org/doi/abs/10.1200/PO.16.00054RDientsmann07/17CMTRUEBRAF inhibitorsCutaneous melanoma
EPHA2 (G391R)EPHA2MUTEPHA2:G391R[MTOR inhibitor][]ResponsivePre-clinicalPMID:20360610RDientsmann01/16LUSCTRUEMTOR inhibitorsLung squamous cell
EPHA2 (G391R)EPHA2MUTEPHA2:G391R[MTOR inhibitor][]ResponsivePre-clinicalPMID:20360610RDientsmannLUSCTRUEMTOR inhibitorsLung squamous cell
EPHA2 amplificationEPHA2CNAEPHA2:ampBCR-ABL inhibitor 2nd genDasatinibResponsivePre-clinicalPMID:18047674;PMID:19010823;PMID:19861960RDientsmann01/16CANCERTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Any cancer type
EPHA2 amplificationEPHA2CNAEPHA2:ampBCR-ABL inhibitor 2nd genDasatinibResponsivePre-clinicalPMID:18047674;PMID:19010823;PMID:19861960RDientsmannCANCERTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Any cancer type
EPHA2 (G391R)EPHA2MUTEPHA2:G391RBCR-ABL inhibitor 2nd genDasatinibResponsivePre-clinicalPMID:20360610RDientsmann01/16LUSCTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Lung squamous cell
EPHA2 (G391R)EPHA2MUTEPHA2:G391RBCR-ABL inhibitor 2nd genDasatinibResponsivePre-clinicalPMID:20360610RDientsmannLUSCTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Lung squamous cell
EPHA3 amplificationEPHA3CNAEPHA3:amp[EPHA3 inhibitor][]ResponsivePre-clinicalPMID:25125683RDientsmann01/16CANCERTRUEEPHA3 inhibitorsAny cancer type
EPHA3 amplificationEPHA3CNAEPHA3:amp[EPHA3 inhibitor][]ResponsivePre-clinicalPMID:25125683RDientsmannCANCERTRUEEPHA3 inhibitorsAny cancer type
PTEN oncogenic mutation + BRAF oncogenic mutationPTEN;BRAFMUT;MUTPTEN:.;BRAF:.[MEK inhibitor][]ResistantPre-clinicalPMID:23039341RDientsmann01/16CMTRUEMEK inhibitorsCutaneous melanoma
PTEN deletion + BRAF oncogenic mutationPTEN;BRAFCNA;MUTPTEN:del;BRAF:.[MEK inhibitor][]ResistantPre-clinicalPMID:23039341RDientsmann01/16CMTRUEMEK inhibitorsCutaneous melanoma
ERBB2 amplificationERBB2CNAERBB2:amp[ERBB2 inhibitor;CDK4/6 inhibitor][]ResponsivePre-clinicalPMID:26977878RDientsmann04/16BRCATRUEERBB2 inhibitor + CDK4/6 inhibitorsBreast adenocarcinoma
ERBB2 proximal exon 20ERBB2MUTERBB2::consequence::inframe_insertion:775-881[ERBB2 inhibitor][Afatinib,Lapatinib,Neratinib]ResponsiveEarly trialsPMID:26598547RDientsmannLUADTRUEERBB2 inhibitors (Afatinib,Lapatinib,Neratinib,etc)Lung adenocarcinoma
ERBB2 proximal exon 20ERBB2MUTERBB2::consequence::inframe_insertion:775-881[ERBB2 mAb inhibitor][Trastuzumab]ResponsiveEarly trialsPMID:26598547RDientsmannLUADTRUEERBB2 mAb inhibitors (Trastuzumab,etc)Lung adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:ampEGFR mAb inhibitorAdo-Trastuzumab EmtansineResponsiveFDA guidelinesFDARDientsmann04/16BRCATRUEAdo-Trastuzumab Emtansine (EGFR mAb inhibitor)Breast adenocarcinoma
ERBB2 overexpressionERBB2EXPRERBB2:overApprovedERBB2 mAb inhibitorAdo-Trastuzumab EmtansineResponsiveFDA guidelinesFDACRubio-PerezBRCATRUEAdo-Trastuzumab Emtansine (ERBB2 mAb inhibitor)Breast adenocarcinoma
ERBB2 inframe insertion (A775YVMA),inframe insertion (G776VC)ERBB2MUTERBB2::consequence::inframe_insertion:A775YVMA,::inframe_insertion:G776VCERBB2 mAb inhibitorAdo-Trastuzumab EmtansineResponsiveEarly trialsASCO 2017 (abstr 8510)RDientsmann07/17LTRUEAdo-Trastuzumab Emtansine (ERBB2 mAb inhibitor)Lung
ERBB2 (V659E,S310F)ERBB2MUTERBB2:V659E,S310FERBB2 mAb inhibitorAdo-Trastuzumab EmtansineResponsiveEarly trialsASCO 2017 (abstr 8510)RDientsmann07/17LTRUEAdo-Trastuzumab Emtansine (ERBB2 mAb inhibitor)Lung
ERBB2 amplificationERBB2CNAERBB2:ampERBB2&EGFR inhibitor 2nd genAfatinibResponsiveCase reportAACR 2014 (abstr CT228)RDientsmann01/16STTRUEAfatinib (ERBB2&EGFR inhibitor 2nd gen)Stomach
ERBB2 amplificationERBB2CNAERBB2:ampERBB2&EGFR inhibitor 2nd genAfatinibResponsiveLate trialsPMID:20142587;PMID:22418700;PMID:23632474RDientsmann04/16BRCATRUEAfatinib (ERBB2&EGFR inhibitor 2nd gen)Breast adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:ampERBB2&EGFR inhibitor 2nd genAfatinibResponsiveCase reportPMID:27044931RDientsmann07/16BLCATRUEAfatinib (ERBB2&EGFR inhibitor 2nd gen)Bladder
ERBB2 proximal exon 20ERBB2MUTERBB2::consequence::inframe_insertion:775-881ERBB2&EGFR inhibitor 2nd genAfatinibResponsiveEarly trialsPMID:26598547;ASCO 2017 (abstr 9071)RDientsmann07/17LUADTRUEAfatinib (ERBB2&EGFR inhibitor 2nd gen)Lung adenocarcinoma
ERBB2 (T798I)ERBB2MUTERBB2:T798IERBB2&EGFR inhibitor 2nd genAfatinibResponsivePre-clinicalPMID:28274957RDientsmann07/17BRCATRUEAfatinib (ERBB2&EGFR inhibitor 2nd gen)Breast adenocarcinoma
ERBB2 oncogenic mutationERBB2MUTERBB2:.Pan ERBB inhibitorDacomitinibResponsiveEarly trialsPMID:25899785EArriola06/16NSCLCTRUEDacomitinib (Pan ERBB inhibitor)Non-small cell lung
ERBB2 amplificationERBB2CNAERBB2:ampERBB2 inhibitor;ChemotherapyLapatinib;CapecitabineResponsiveFDA guidelinesFDA:https://www.accessdata.fda.gov/drugsatfda_docs/label/2018/022059s023lbl.pdf;PMID:17192538RDientsmann;CRubio-Perez;SDemajo04/16BRCATRUEFor 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 amplificationERBB2CNAERBB2:ampERBB2 inhibitorLapatinibResponsiveEarly trialsPMID:26022204RDientsmann07/17BTTRUELapatinib (ERBB2 inhibitor)Billiary tract
ERBB2 (D769Y,D769H,R896C,V777L,V842I,G309A)ERBB2MUTERBB2:D769Y,D769H,R896C,V777L,V842I,G309AERBB2 inhibitorLapatinibResponsivePre-clinicalPMID:23220880RDientsmannBRCATRUELapatinib (ERBB2 inhibitor)Breast adenocarcinoma
RAC1 (P29S) + BRAF oncogenic mutationRAC1;BRAFMUT;MUTRAC1:P29S;BRAF:.[BRAF inhibitor][]ResistantCase reportPMID:25056119RDientsmann01/16CMTRUEBRAF inhibitorsCutaneous melanoma
ERBB2 overexpressionERBB2EXPRERBB2:overApprovedERBB2 inhibitor;ChemotherapyLapatinib;CapecitabineResponsiveFDA guidelinesFDA:https://www.accessdata.fda.gov/drugsatfda_docs/label/2018/022059s023lbl.pdf;PMID:17192538CRubio-Perez;SDemajoBRCATRUEFor 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)ERBB2MUTERBB2:V659EERBB2 inhibitorLapatinibResponsiveCase reportPMID:23950206RDientsmannBRCA;LUADTRUELapatinib (ERBB2 inhibitor)Breast adenocarcinoma;Lung adenocarcinoma
ERBB2 proximal exon 20ERBB2MUTERBB2::consequence::inframe_insertion:775-881ERBB2 inhibitorLapatinibResponsiveEarly trialsPMID:26598547;ASCO 2017 (abstr 9071)RDientsmann07/17LUADTRUELapatinib (ERBB2 inhibitor)Lung adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:ampERBB2 inhibitor;ChemotherapyLapatinib;ChemotherapyResponsiveEarly trialsPMID:25694417;NCT02015169RDientsmann01/16STTRUELapatinib + Chemotherapy (ERBB2 inhibitor + Chemotherapy)Stomach
ERBB2 overexpressionERBB2EXPRERBB2:overAllosteric AKT inhibitor;ERBB2 mAb inhibitorMK2206;TrastuzumabResponsiveEarly trialsASCO 2013 (abstr 2605);PMID:26104654DCasadevallSOLIDTRUEMK2206 + Trastuzumab (Allosteric AKT inhibitor + ERBB2 mAb inhibitor)Solid tumors
ERBB2 inframe deletion (755-759),inframe insertion (780GSP),inframe insertion (781GSP)ERBB2MUTERBB2::consequence::inframe_deletion:755-759,::inframe_insertion:.780GSP,::inframe_insertion:.781GSPERBB2 inhibitorNeratinibResponsivePre-clinicalPMID:23220880RDientsmannBRCATRUENeratinib (ERBB2 inhibitor)Breast adenocarcinoma
ERBB2 oncogenic mutationERBB2MUTERBB2:.ERBB2 inhibitorNeratinibResponsiveEarly trialsESMO 2014 (abstr LBA39_PR)RDientsmannLUADTRUENeratinib (ERBB2 inhibitor)Lung adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:ampERBB2 inhibitorNeratinibResponsiveLate trialsPMID:20142587;PMID:22418700;PMID:23632474RDientsmann04/16BRCATRUENeratinib (ERBB2 inhibitor)Breast adenocarcinoma
ERBB2 (K753E)ERBB2MUTERBB2:K753EERBB2 inhibitorNeratinibResponsivePre-clinicalPMID:27697991RDientsmann12/16BRCATRUENeratinib (ERBB2 inhibitor)Breast adenocarcinoma
ERBB2 (L755S,G309A,D769Y,D769H,R896C,V777L,V842I)ERBB2MUTERBB2:L755S,G309A,D769Y,D769H,R896C,V777L,V842IERBB2 inhibitorNeratinibResponsivePre-clinicalPMID:23220880RDientsmannBRCATRUENeratinib (ERBB2 inhibitor)Breast adenocarcinoma
ERBB2 proximal exon 20ERBB2MUTERBB2::consequence::inframe_insertion:775-881ERBB2 inhibitorNeratinibResponsiveEarly trialsPMID:26598547;ASCO 2017 (abstr 9071)RDientsmann07/17LUADTRUENeratinib (ERBB2 inhibitor)Lung adenocarcinoma
ERBB2 (L869R)ERBB2MUTERBB2:L869RERBB2 inhibitorNeratinibResponsiveCase reportPMID:28274957RDientsmann07/17BRCATRUENeratinib (ERBB2 inhibitor)Breast adenocarcinoma
ERBB2 (S310,L755,V777)ERBB2MUTERBB2:S310.,L755.,V777.ERBB2 inhibitorNeratinibResponsiveEarly trialsAACR 2017 (abstr CT001)RDientsmann07/17CANCERTRUENeratinib (ERBB2 inhibitor)Any cancer type
ERBB2 inframe insertion (P780GSP),inframe insertion (781GSP),inframe insertion (A775YVMA),inframe insertion (G776YVMA)ERBB2MUTERBB2::consequence::inframe_insertion:P780GSP,::inframe_insertion:.781GSP,::inframe_insertion:A775YVMA,::inframe_insertion:G776YVMAERBB2 inhibitorNeratinibResponsiveEarly trialsAACR 2017 (abstr CT001)RDientsmann07/17CANCERTRUENeratinib (ERBB2 inhibitor)Any cancer type
RAC1 (P29S) + BRAF oncogenic mutationRAC1;BRAFMUT;MUTRAC1:P29S;BRAF:.[BRAF inhibitor][]ResistantCase reportPMID:25056119RDientsmannCMTRUEBRAF inhibitorsCutaneous melanoma
RAF1 (S257P,G361A,P261P) + BRAF oncogenic mutationRAF1;BRAFMUT;MUTRAF1:S257P,G361A,P261P;BRAF:.[BRAF inhibitor][]ResistantPre-clinicalPMID:23737487RDientsmannCMTRUEBRAF inhibitorsCutaneous melanoma
ERBB2 amplificationERBB2CNAERBB2:ampERBB2 mAb inhibitorPertuzumabResponsiveEarly trialsPMID:24960402RDientsmann01/16STTRUEPertuzumab (ERBB2 mAb inhibitor)Stomach
ERBB2 amplificationERBB2CNAERBB2:ampERBB2 mAb inhibitorPertuzumabResponsiveFDA guidelinesFDARDientsmann;CRubio-Perez04/16BRCATRUEPertuzumab (ERBB2 mAb inhibitor)Breast adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:ampERBB2 mAb inhibitorPertuzumabResponsiveEarly trialsPMID:26022204RDientsmann07/17BTTRUEPertuzumab (ERBB2 mAb inhibitor)Billiary tract
ERBB2 overexpressionERBB2EXPRERBB2:overApprovedERBB2 mAb inhibitorPertuzumabResponsiveFDA guidelinesFDACRubio-PerezBRCATRUEPertuzumab (ERBB2 mAb inhibitor)Breast adenocarcinoma
ERBB2 oncogenic mutationERBB2MUTERBB2:.MTOR inhibitorTensirolimusResponsiveEarly trialsESMO 2014 (abstr LBA39_PR)RDientsmannLUADTRUETensirolimus (MTOR inhibitor)Lung adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:ampERBB2 mAb inhibitorTrastuzumabResponsiveFDA guidelinesFDACRubio-Perez04/16ST;GEJATRUETrastuzumab (ERBB2 mAb inhibitor)Stomach;Gastroesophageal junction adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:ampERBB2 mAb inhibitorTrastuzumabResponsiveFDA guidelinesFDARDientsmann;CRubio-Perez04/16BRCATRUEIn combination with adjuvant chemotherapyTrastuzumab (ERBB2 mAb inhibitor)Breast adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:ampERBB2 mAb inhibitorTrastuzumabResponsiveEarly trialsPMID:26022204RDientsmann07/17BTTRUETrastuzumab (ERBB2 mAb inhibitor)Billiary tract
STK11 oncogenic mutationSTK11MUTSTK11:.[BET inhibitor][]ResistantPre-clinicalPMID:23129625;PMID:24045185RDientsmann04/16LTRUEBET inhibitorsLung
ERBB2 amplificationERBB2CNAERBB2:ampERBB2 mAb inhibitorTrastuzumabResponsiveCase reportPMID:21380780RDientsmannHNCTRUETrastuzumab (ERBB2 mAb inhibitor)Head an neck
ERBB2 amplificationERBB2CNAERBB2:ampERBB2 mAb inhibitorTrastuzumabResponsiveEarly trialsPMID:20003286;PMID:12525520RDientsmannOVTRUETrastuzumab (ERBB2 mAb inhibitor)Ovary
ERBB2 (D769Y,D769H,R896C,G309E,S310F,S310Y,C311R)ERBB2MUTERBB2:D769Y,D769H,R896C,G309E,S310F,S310Y,C311RERBB2 mAb inhibitorTrastuzumabResponsivePre-clinicalPMID:23220880;PMID:22908275RDientsmannBRCA;CANCERTRUETrastuzumab (ERBB2 mAb inhibitor)Breast adenocarcinoma;Any cancer type
ERBB2 (G309E,S310F,S310Y,C311R,E321G,C334S)ERBB2MUTERBB2:G309E,S310F,S310Y,C311R,E321G,C334SERBB2 mAb inhibitorTrastuzumabResponsivePre-clinicalPMID:22908275RDientsmannCANCERTRUETrastuzumab (ERBB2 mAb inhibitor)Any cancer type
ERBB2 (G776L)ERBB2MUTERBB2:G776LERBB2 mAb inhibitorTrastuzumabResponsiveCase reportPMID:16775247RDientsmannLUADTRUETrastuzumab (ERBB2 mAb inhibitor)Lung adenocarcinoma
ERBB2 overexpressionERBB2EXPRERBB2:overApprovedERBB2 mAb inhibitorTrastuzumabResponsiveFDA guidelinesFDACRubio-PerezBRCATRUEIn combination with adjuvant chemotherapyTrastuzumab (ERBB2 mAb inhibitor)Breast adenocarcinoma
ERBB2 overexpressionERBB2EXPRERBB2:overApprovedERBB2 mAb inhibitorTrastuzumabResponsiveFDA guidelinesFDACRubio-PerezST;GEJATRUETrastuzumab (ERBB2 mAb inhibitor)Stomach;Gastroesophageal junction adenocarcinoma
ERBB2 proximal exon 20ERBB2MUTERBB2::consequence::inframe_insertion:775-881ERBB2 mAb inhibitorTrastuzumabResponsiveEarly trialsPMID:26598547;ASCO 2017 (abstr 9071)RDientsmann07/17LUADTRUETrastuzumab (ERBB2 mAb inhibitor)Lung adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:ampERBB2 mAb inhibitorAdo-Trastuzumab EmtansineResponsiveCase reporthttp://ascopubs.org/doi/full/10.1200/PO.16.00055RDientsmann07/17COREADTRUEAdo-Trastuzumab Emtansine (ERBB2 mAb inhibitor)Colorectal adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:ampERBB2 mAb inhibitor;MTOR inhibitor;ChemotherapyTrastuzumab;Everolimus;ChemotherapyResponsiveEarly trialsPMID:21107682;PMID:20975068RDientsmann04/16BRCATRUETrastuzumab + Everolimus + Chemotherapy (ERBB2 mAb inhibitor + MTOR inhibitor + Chemotherapy)Breast adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:ampERBB2 mAb inhibitor;HSP90 inhibitorTrastuzumab;HSP90 inhibitorResponsiveEarly trialsPMID:21558407RDientsmann04/16BRCATRUETrastuzumab + HSP90 inhibitor (ERBB2 mAb inhibitor + HSP90 inhibitor)Breast adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:ampERBB2 mAb inhibitor;ERBB2 inhibitorTrastuzumab;LapatinibResponsiveLate trialsASCO 2015 (abstr 3508);NCT01104571;EBCC10RDientsmann01/16COREADTRUETrastuzumab + Lapatinib (ERBB2 mAb inhibitor + ERBB2 inhibitor)Colorectal adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:ampERBB2 mAb inhibitor;ERBB2 inhibitorTrastuzumab;LapatinibResponsivePre-clinicalPMID:25294905RDientsmann01/16EDTRUETrastuzumab + Lapatinib (ERBB2 mAb inhibitor + ERBB2 inhibitor)Endometrium
ERBB2 expression + ESR1 overexpressionERBB2;ESR1EXPR;EXPRERBB2:norm;ESR1:overApproved[Hormonal therapy][Tamoxifen,Letrozole,Anastrozole,Exemestane,Fulvestrant,LHRH analogues or antagonist]ResponsiveFDA guidelinesFDAJAlbanell;ARovira09/15BRCATRUEHormonal therapys (Tamoxifen,Letrozole,Anastrozole,Exemestane,Fulvestrant,LHRH analogues or antagonist,etc)Breast adenocarcinoma
ERBB2 expression + ESR1 overexpressionERBB2;ESR1EXPR;EXPRERBB2:norm;ESR1:overCDK4/6 inhibitorAbemaciclibResponsiveEarly trialsPMID:26658964DTamborero;CRubio-Perez04/16BRCATRUEAbemaciclib (CDK4/6 inhibitor)Breast adenocarcinoma
ERBB2 expression + ESR1 overexpressionERBB2;ESR1EXPR;EXPRERBB2:norm;ESR1:overApprovedMTOR inhibitorEverolimusResponsiveFDA guidelinesFDAJAlbanell;ARovira09/15BRCATRUEHER2- (not overexpressed and not amplified) and ER+ (>1% positive tumor cells)Everolimus (MTOR inhibitor)Breast adenocarcinoma
ERBB2 expression -ERBB2EXPRERBB2:normApprovedCDK4/6 inhibitorPalbociclibResponsiveFDA guidelinesFDA: https://www.fda.gov/drugs/resources-information-approved-drugs/palbociclib-ibranceCRubio-Perez;RShadrina;SDemajoBRCATRUEIndicated 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 mutationSTK11;KRASMUT;MUTSTK11:.;KRAS:.[PD1 Ab inhibitor][]ResistantEarly trialsASCO 2017 (abstr 9016)RDientsmann07/17LUADTRUEPD1 Ab inhibitorsLung adenocarcinoma
ERBB3 (P262H,G284R)ERBB3MUTERBB3:P262H,G284R[ERBB3 mAb inhibitor][]ResponsivePre-clinicalPMID:23680147RDientsmannCANCERTRUEERBB3 mAb inhibitorsAny cancer type
ERBB3 (P262H,G284R,Q809R)ERBB3MUTERBB3:P262H,G284R,Q809R[PI3K pathway inhibitor;MEK inhibitor][]ResponsivePre-clinicalPMID:23680147RDientsmannCANCERTRUEPI3K pathway inhibitor + MEK inhibitorsAny cancer type
ERBB3 (G284R,R103G)ERBB3MUTERBB3:G284R,R103GERBB2&EGFR inhibitor 2nd genAfatinibResponsiveCase reportASCO 2015 (abstr e15516)RDientsmannBLCATRUEAfatinib (ERBB2&EGFR inhibitor 2nd gen)Bladder
ERBB3 (G284R,V104M,R103G)ERBB3MUTERBB3:G284R,V104M,R103GERBB2&EGFR inhibitor 2nd genAfatinibResponsiveCase reportPMID:27044931RDientsmann07/16BLCATRUEAfatinib (ERBB2&EGFR inhibitor 2nd gen)Bladder
ERBB3 (P262H,G284R,Q809R)ERBB3MUTERBB3:P262H,G284R,Q809RERBB2 inhibitorLapatinibResponsivePre-clinicalPMID:23680147RDientsmannCANCERTRUELapatinib (ERBB2 inhibitor)Any cancer type
ERBB3 (P262H,G284R)ERBB3MUTERBB3:P262H,G284RERBB2 mAb inhibitorPertuzumabResponsivePre-clinicalPMID:23680147RDientsmannCANCERTRUEPertuzumab (ERBB2 mAb inhibitor)Any cancer type
ERBB3 (P262H,G284R,Q809R)ERBB3MUTERBB3:P262H,G284R,Q809RERBB2 mAb inhibitorTrastuzumabResponsivePre-clinicalPMID:23680147RDientsmannCANCERTRUETrastuzumab (ERBB2 mAb inhibitor)Any cancer type
STK11 deletion + KRAS oncogenic mutationSTK11;KRASCNA;MUTSTK11:del;KRAS:.[PD1 Ab inhibitor][]ResistantEarly trialsASCO 2017 (abstr 9016)RDientsmann07/17LUADTRUEPD1 Ab inhibitorsLung adenocarcinoma
ERBB4 (E317K,E452K,R544W,R393W,E872K)ERBB4MUTERBB4:E317K,E452K,R544W,R393W,E872KERBB2 inhibitorLapatinibResponsivePre-clinicalPMID:19718025RDientsmannCMTRUELapatinib (ERBB2 inhibitor)Cutaneous melanoma
ERBB4 fusionERBB4FUSERBB4__.ERBB2 inhibitor;ERBB2 inhibitor&EGFR inhibitor 2nd genLapatinib;AfatinibResponsivePre-clinicalPMID:24727320RDientsmannLUADTRUELapatinib + Afatinib (ERBB2 inhibitor + ERBB2 inhibitor&EGFR inhibitor 2nd gen)Lung adenocarcinoma
ERCC1 oncogenic mutationERCC1MUTERCC1:.[PARP inhibitor][]ResponsivePre-clinicalPMID:23934192RDientsmannLTRUEPARP inhibitorsLung
ERCC1 deletionERCC1CNAERCC1:del[PARP inhibitor][]ResponsivePre-clinicalPMID:23934192RDientsmannLTRUEPARP inhibitorsLung
ERCC1 oncogenic mutationERCC1MUTERCC1:.ChemotherapyCisplatinResponsivePre-clinicalPMID:23275151;PMID:23934192RDientsmann01/16LTRUECisplatin (Chemotherapy)Lung
ERCC1 deletionERCC1CNAERCC1:delChemotherapyCisplatinResponsivePre-clinicalPMID:23275151;PMID:23934192RDientsmann01/16LTRUECisplatin (Chemotherapy)Lung
TP53 oncogenic mutationTP53MUTTP53:.[MDM2 inhibitor][]ResistantEarly trialsPMID:23084521;ASCO 2015 (abstr 10564)RDientsmann01/16LIPTRUEMDM2 inhibitorsLiposarcoma
ERCC2 oncogenic mutationERCC2MUTERCC2:.ChemotherapyCisplatinResponsiveEarly trialsPMID:25096233RDientsmannBLCATRUECisplatin (Chemotherapy)Bladder
ERCC4 oncogenic mutationERCC4MUTERCC4:.ChemotherapyCisplatinResponsivePre-clinicalPMID:25634215RDientsmannOVTRUECisplatin (Chemotherapy)Ovary
ERCC6 oncogenic mutationERCC6MUTERCC6:.ChemotherapyCisplatinResponsivePre-clinicalPMID:25634215RDientsmannOVTRUECisplatin (Chemotherapy)Ovary
EREG amplificationEREGCNAEREG:amp[EGFR mAb inhibitor][]ResponsiveEarly trialsPMID:19738126;PMID:26341080RDientsmann04/16COREADTRUEEGFR mAb inhibitorsColorectal adenocarcinoma
ZBTB16 undexpressionZBTB16EXPRZBTB16:under[LHRH analogues or antagonist][]ResistantPre-clinicalPMID:16637071ARodriguez-Vida09/15PRADPRTRUELHRH analogues or antagonistsProstate adenocarcinoma
ESR1 (E380Q,537,538,L536,P535H)ESR1MUTESR1:E380Q,.537.,.538.,L536.,P535H[novel ER degrader][GDC-0810]ResponsiveCase reportAACR 2015 (abstr CT231)RDientsmann01/16BRCATRUEnovel ER degraders (GDC-0810,etc)Breast adenocarcinoma
NTRK1 (G595R,G667C)NTRK1MUTNTRK1:G595R,G667C[Pan-TK inhibitor][Entrectinib]ResistantCase reportPMID:26546295RDientsmann11/15COREADTRUEPan-TK inhibitors (Entrectinib,etc)Colorectal adenocarcinoma
ESR1 oncogenic mutationESR1MUTESR1:.Hormonal therapyFluvestrantResponsiveLate trialsPMID:27269946RDientsmann06/16BRCATRUEFluvestrant (Hormonal therapy)Breast adenocarcinoma
ERBB4 (H809G)ERBB4MUTERBB4:H809G[ERBB2 inhibitor][Lapatinib]ResistantCase reportPMID:26530965RDientsmann11/15BRCATRUEERBB2 inhibitors (Lapatinib,etc)Breast adenocarcinoma
ABL1 (T315I)ABL1MUTABL1:T315IApproved[BCR-ABL inhibitor 2nd gen][Nilotinib,Dasatinib]ResistantEuropean LeukemiaNet guidelinesPMID:21562040CRubio-Perez12/15CMLTRUEHas to be recheckedBCR-ABL inhibitor 2nd gens (Nilotinib,Dasatinib,etc)Chronic myeloid leukemia
EZH2 (Y641,A677)EZH2MUTEZH2:Y641.,A677.DirectPre-clinical[EZH2 inhibitor][EPZ-005687,EPZ-6438]ResponsivePre-clinicalCell linePMID:23023262;PMID:24563539RDientsmann;ECampoLYTRUEEZH2 inhibitors (EPZ-005687,EPZ-6438,etc)Lymphoma
FANCA oncogenic mutationFANCAMUTFANCA:.PARP inhibitorOlaparibResponsiveCase reportPMID:26510020RDientsmann01/16PRADTRUEOlaparib (PARP inhibitor)Prostate adenocarcinoma
FANCA deletionFANCACNAFANCA:delPARP inhibitorOlaparibResponsiveCase reportPMID:26510020RDientsmann01/16PRADTRUEOlaparib (PARP inhibitor)Prostate adenocarcinoma
FANCC oncogenic mutationFANCCMUTFANCC:.IndirectApprovedChemotherapyCisplatinResponsiveEarly trialsPMID:26238431ARodriguez-Vida09/15BLCABLCATRUECisplatin (Chemotherapy)Bladder
FANCC deletionFANCCCNAFANCC:delIndirectApprovedChemotherapyCisplatinResponsiveEarly trialsPMID:26238431ARodriguez-Vida09/15BLCABLCATRUECisplatin (Chemotherapy)Bladder
FAT1 oncogenic mutationFAT1MUTFAT1:.[BET inhibitor][]ResponsivePre-clinicalPMID:27397505RDientsmann07/16HNSCTRUEBET inhibitorsHead an neck squamous
FBXW7 oncogenic mutationFBXW7MUTFBXW7:.[Steroid][]ResponsiveLate trialsPMID:20861909RDientsmann01/16ALLTRUESteroidsAcute lymphoblastic leukemia
TP53 oncogenic mutationTP53MUTTP53:.CDK4/CDK6 inhibitorAbemaciclibResistantEarly trialsPMID:27217383RDientsmann12/16BRCATRUEAbemaciclib (CDK4/CDK6 inhibitor)Breast adenocarcinoma
FBXW7 deletionFBXW7CNAFBXW7:delIndirectApprovedMTOR inhibitorSirolimusResponsivePre-clinicalCell linePMID:23558291CRubio-PerezCOREADTRUESirolimus (MTOR inhibitor)Colorectal adenocarcinoma
FGF3 amplificationFGF3CNAFGF3:ampFGFR inhibitorDovitinibResponsiveEarly trialsPMID:23658459RDientsmannBRCATRUEDovitinib (FGFR inhibitor)Breast adenocarcinoma
FGF3 amplificationFGF3CNAFGF3:ampIndirectClinical TrialsFGFR inhibitorLucitanibResponsiveEarly trialsPMID:25193991JAlbanell;ARovira09/15BRCATRUELucitanib (FGFR inhibitor)Breast adenocarcinoma
FGF4 amplificationFGF4CNAFGF4:ampFGFR inhibitorDovitinibResponsiveEarly trialsPMID:23658459RDientsmannBRCATRUEDovitinib (FGFR inhibitor)Breast adenocarcinoma
FGF4 amplificationFGF4CNAFGF4:ampIndirectClinical TrialsFGFR inhibitorLucitanibResponsiveEarly trialsPMID:25193991JAlbanell;ARovira09/15BRCATRUELucitanib (FGFR inhibitor)Breast adenocarcinoma
FGFR1 amplificationFGFR1CNAFGFR1:amp[FGFR inhibitor][]ResponsiveCase reportPMID:27870574RDientsmann07/17LUSCTRUEFGFR inhibitorsLung squamous cell
FGFR1 amplificationFGFR1CNAFGFR1:amp[FGFR inhibitor][]ResponsiveCase reportASCO 2017 (abstr 2500)RDientsmann07/17EDTRUEFGFR inhibitorsEndometrium
FGFR1 amplificationFGFR1CNAFGFR1:amp[FGFR inhibitor][]ResponsiveEarly trialsAACR 2012 (abstr LB-122);AACR 2013 (abstr LB-145)RDientsmannLUSCTRUEFGFR inhibitorsLung squamous cell
FGFR1 amplificationFGFR1CNAFGFR1:amp[FGFR inhibitor][]ResponsivePre-clinicalPMID:23418312RDientsmannHNCTRUEFGFR inhibitorsHead an neck
FGFR1 amplificationFGFR1CNAFGFR1:amp[FGFR inhibitor][Lucitanib]ResponsiveEarly trialsPMID:25193991RDientsmann;JAlbanellBRCATRUEFGFR inhibitors (Lucitanib,etc)Breast adenocarcinoma
AR amplificationARCNAAR:ampApprovedAR inhibitorAbirateroneResistantEarly trialsPMID:26537258RDientsmann11/15PRADTRUEAbiraterone (AR inhibitor)Prostate adenocarcinoma
AR (L702H,T878A)ARMUTAR:L702H,T878AApprovedAR inhibitorAbirateroneResistantEarly trialsPMID:26537258RDientsmann11/15PRADTRUEREMAP:T877A to T878A the previous mutation was not found in . transcript to our knowledge.Abiraterone (AR inhibitor)Prostate adenocarcinoma
FGFR2 fusionFGFR2FUSFGFR2__.[FGFR inhibitor][]ResponsiveEarly trialsASCO 2016 (abstr 109)RDientsmannBTTRUEFGFR inhibitorsBilliary tract
FGFR2 inframe insertion (A266),inframe insertion (S267)FGFR2MUTFGFR2::consequence::inframe_insertion:A266.,::inframe_insertion:S267.[FGFR inhibitor][]ResponsivePre-clinicalPMID:26048680RDientsmann01/16LTRUEFGFR inhibitorsLung
FGFR2 amplificationFGFR2CNAFGFR2:amp[FGFR inhibitor][]ResponsiveEarly trialsASCO 2015 (abstr 2508)RDientsmann01/16STTRUEFGFR inhibitorsStomach
FGFR2 amplificationFGFR2CNAFGFR2:amp[FGFR inhibitor][]ResponsiveCase reportPMID:25193991RDientsmann01/16BRCATRUEFGFR inhibitorsBreast adenocarcinoma
EGFR overexpressionEGFREXPREGFR:overApprovedEGFR mAb inhibitorPanitumumabResistantFDA guidelinesFDA guidelinesCRubio-Perez;RDientsmannCOREADTRUEPanitumumab (EGFR mAb inhibitor)Colorectal adenocarcinoma
FGFR2 (S252W,N550K)FGFR2MUTFGFR2:S252W,N550K[FGFR inhibitor][]ResponsivePre-clinicalPMID:18552176;PMID:22238366;PMID:23002168RDientsmannEDTRUEREMAP: N549K to N500K to have all mutations in same transcript (ENST00000457416)FGFR inhibitorsEndometrium
FGFR2 (V565I)FGFR2MUTFGFR2:V565I[FGFR inhibitor][]ResponsivePre-clinicalENA 2014 (abstr 381)RDientsmann01/16EDTRUEFGFR inhibitorsEndometrium
FGFR2 (W290C,S320C,K660N)FGFR2MUTFGFR2:W290C,S320C,K660N[FGFR inhibitor][]ResponsivePre-clinicalPMID:23786770;PMID:25035393RDientsmannLUSCTRUEFGFR inhibitorsLung squamous cell
FGFR2 fusionFGFR2FUSFGFR2__.[FGFR inhibitor][]ResponsiveEarly trialsASCO 2017 (abstr 2500)RDientsmann07/17COREADTRUEFGFR inhibitorsColorectal adenocarcinoma
ALK (I1171T)ALKMUTALK:I1171TALK inhibitorAlectinibResistantCase reportPMID:25228534RDientsmann01/16LUADTRUEAlectinib (ALK inhibitor)Lung adenocarcinoma
FGFR2 (M536I,M538I,I548V,N550,E566G,L618M,K660E)FGFR2MUTFGFR2:M536I,M538I,I548V,N550.,E566G,L618M,K660EBCR-ABL inhibitor 3rd gen&Pan-TK inhibitorPonatinibResponsivePre-clinicalPMID:23908597RDientsmann01/16EDTRUEPonatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)Endometrium
FGFR3 fusionFGFR3FUSFGFR3__.[FGFR inhibitor][]ResponsiveEarly trialsPMID:26324363RDientsmann01/16GTRUEFGFR inhibitorsGlioma
FGFR3 oncogenic mutationFGFR3MUTFGFR3:.[FGFR inhibitor][]ResponsiveEarly trialsPMID:27870574RDientsmann01/16BLCATRUEFGFR inhibitorsBladder
FGFR3 (K650,Y373C)FGFR3MUTFGFR3:K650.,Y373C[FGFR inhibitor][]ResponsivePre-clinicalPMID:16091734;PMID:20439987;PMID:22869148RDientsmann01/16MYMATRUEFGFR inhibitorsMyeloma
FGFR3 (S249C,G691R)FGFR3MUTFGFR3:S249C,G691R[FGFR inhibitor][]ResponsivePre-clinicalPMID:27998968RDientsmann07/17LUADTRUEFGFR inhibitorsLung adenocarcinoma
AR (F877L)ARMUTAR:F877LAR inhibitorArn-509ResistantCase reportPMID:23779130RDientsmann;ARodriguez-Vida09/15PRADPRADTRUEREMAP:F876L to F877L the previous mutation was not found in . transcript to our knowledge.Arn-509 (AR inhibitor)Prostate adenocarcinoma
FGFR3 fusionFGFR3FUSFGFR3__.[FGFR inhibitor][]ResponsiveCase reportPMID:26324363;ASCO 2017 (abstr 2500)RDientsmann07/17BLCATRUEFGFR inhibitorsBladder
FGFR3 (K650)FGFR3MUTFGFR3:K650.Proteasome inhibitorBortezomibResponsivePre-clinicalPMID:19331127;PMID:21273588RDientsmannMYMATRUEBortezomib (Proteasome inhibitor)Myeloma
FGFR3-TACC3 fusionFGFR3FUSFGFR3__TACC3[FGFR inhibitor]ResponsivePre-clinicalPMID:25294908EArriola06/16NSCLCTRUEFGFR inhibitors (,etc)Non-small cell lung
FGFR4 (N535,V550)FGFR4MUTFGFR4:N535.,V550.[FGFR inhibitor][]ResponsivePre-clinicalPMID:19809159;PMID:24124571RDientsmann04/16RHBDSTRUEREMAP:changed N535 and V550 from K535 and E550. Reference added by carlotaFGFR inhibitorsRhabdomyosarcoma
FLCN oncogenic mutationFLCNMUTFLCN:.MTOR inhibitorEverolimusResponsiveCase reportPMID:23995526RDientsmann01/16RTRUEEverolimus (MTOR inhibitor)Renal
FLCN deletionFLCNCNAFLCN:delMTOR inhibitorEverolimusResponsiveCase reportPMID:25295501RDientsmann01/16THTRUEEverolimus (MTOR inhibitor)Thyroid
FLT1 overexpressionFLT1EXPRVEGFR1:overDirectApprovedPan-TK inhibitorSunitinibResponsivePre-clinicalCell linePMID:24086736;PMID:21478036ARodriguez-Vida09/15RTRUESunitinib (Pan-TK inhibitor)Renal
FLT1 overexpressionFLT1EXPRVEGFR2:overDirectApprovedPan-TK inhibitorSunitinibResponsivePre-clinicalCell linePMID:24086736;PMID:21478036ARodriguez-Vida09/15RTRUESunitinib (Pan-TK inhibitor)Renal
FGFR3 (Y373C)FGFR3MUTFGFR3:Y373CProteasome inhibitorBortezomibResistantPre-clinicalPMID:19331127;PMID:21273588RDientsmannMYMATRUEBortezomib (Proteasome inhibitor)Myeloma
FLT3-ITDFLT3MUTFLT3::consequence::inframe_variant:572-630[FLT3 inhibitor][]ResponsiveEarly trialsPMID:16857985RDientsmann;SDemajo;RShadrina01/16AMLTRUEITD (codified as inframe) in Juxtamembrane domainFLT3 inhibitorsAcute myeloid leukemia
FLT3 (F691)FLT3MUTFLT3:F691.[novel FLT3 inhibitor][]ResponsivePre-clinicalPMID:25847190RDientsmann01/16AMLTRUEnovel FLT3 inhibitorsAcute myeloid leukemia
FLT3 (N676)FLT3MUTFLT3:N676.FLT3 inhibitorCrenolanibResponsivePre-clinicalPMID:24619500RDientsmann01/16AMLTRUECrenolanib (FLT3 inhibitor)Acute myeloid leukemia
FLT3 (D835)FLT3MUTFLT3:D835.Pan-TK inhibitorLestaurtinibResponsiveCase reportPMID:16857985RDientsmann01/16AMLTRUELestaurtinib (Pan-TK inhibitor)Acute myeloid leukemia
FLT3 (D835)FLT3MUTFLT3:D835.Pan-TK inhibitorMidostaurinResponsiveCase reportPMID:20733134RDientsmann01/16AMLTRUEMidostaurin (Pan-TK inhibitor)Acute myeloid leukemia
FLT3 (N676)FLT3MUTFLT3:N676.Pan-TK inhibitorMidostaurinResponsivePre-clinicalPMID:24619500RDientsmann01/16AMLTRUEMidostaurin (Pan-TK inhibitor)Acute myeloid leukemia
ABL1 (T315I)ABL1MUTABL1:T315IApprovedBCR-ABL inhibitor 3rd genBosutinibResistantEuropean LeukemiaNet guidelinesPMID:21562040CRubio-Perez12/15CMLTRUEHas to be recheckedBosutinib (BCR-ABL inhibitor 3rd gen)Chronic myeloid leukemia
FLT3-ITDFLT3MUTFLT3::consequence::inframe_variant:572-630Pan-TK inhibitorQuizartinibResponsiveEarly trialsASH 2012 (abstr 673);ASH 2012 (abstr 48)RDientsmann;SDemajo;RShadrina01/16AMLTRUEITD (codified as inframe) in Juxtamembrane domainQuizartinib (Pan-TK inhibitor)Acute myeloid leukemia
PTEN biallelic inactivationPTENBIAPTEN:.Clinical TrialsPIK3CA inhibitorBYL719ResistantCase reportPMID:25409150DTamboreroBRCATRUEBYL719 (PIK3CA inhibitor)Breast adenocarcinoma
FLT3-ITDFLT3MUTFLT3::consequence::inframe_variant:572-630Pan-TK inhibitorSorafenibResponsiveEarly trialsPMID:19389879;PMID:22368270RDientsmann;SDemajo;RShadrina01/16AMLTRUEITD (codified as inframe) in Juxtamembrane domainSorafenib (Pan-TK inhibitor)Acute myeloid leukemia
FLT3-ITDFLT3MUTFLT3::consequence::inframe_variant:572-630Pan-TK inhibitor;ChemotherapySorafenib;AzacytidineResponsiveEarly trialsPMID:23613521RDientsmann;SDemajo;RShadrina01/16AMLTRUEITD (codified as inframe) in Juxtamembrane domainSorafenib + Azacytidine (Pan-TK inhibitor + Chemotherapy)Acute myeloid leukemia
NF1 oncogenic mutationNF1MUTNF1:.ALK inhibitorCediranibNo ResponsiveEarly trialsNCT00326872RDientsmann07/16PLENTRUEgermlineCediranib (ALK inhibitor)Plexiform neurofibroma
NF1 deletionNF1CNANF1:delALK inhibitorCediranibNo ResponsiveEarly trialsNCT00326872RDientsmann07/16PLENTRUEgermline NCT00326872 (trial results section)Cediranib (ALK inhibitor)Plexiform neurofibroma
ALK (G1123S)ALKMUTALK:G1123SALK inhibitorCeritinibResistantCase reportPMID:26134233EArriola09/15LUADTRUECeritinib (ALK inhibitor)Lung adenocarcinoma
FOXA1 amplificationFOXA1CNAFOXA1:amp[BCL2 inhibitor][]ResponsivePre-clinicalPMID:27397505RDientsmann07/16COREADTRUEBCL2 inhibitorsColorectal adenocarcinoma
FRS2 amplificationFRS2CNAFRS2:amp[FGFR inhibitor][]ResponsivePre-clinicalPMID:23393200RDientsmannLIPTRUEFGFR inhibitorsLiposarcoma
G6PD biallelic inactivationG6PDBIAG6PD:.ApprovedBRAF inhibitorDabrafenibIncreased Toxicity (Haemolytic Anemia)FDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUEDabrafenib (BRAF inhibitor)Any cancer type
G6PD (S218F)G6PDMUTG6PD:S218FApprovedBRAF inhibitorDabrafenibIncreased Toxicity (Haemolytic Anemia)FDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUEDabrafenib (BRAF inhibitor)Any cancer type
G6PD (V98M) + G6PD (N156D)G6PD;G6PDMUT;MUTG6PD:V98M;G6PD:N156DApprovedBRAF inhibitorDabrafenibIncreased Toxicity (Haemolytic Anemia)FDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUEDabrafenib (BRAF inhibitor)Any cancer type
GATA3 oncogenic mutationGATA3MUTGATA3:.[Aromatase ihibitor][]ResponsivePre-clinicalPMID:24758297RDientsmannBRCATRUEAromatase ihibitorsBreast adenocarcinoma
ROS1 (S1986Y,S1986F)ROS1MUTROS1:S1986Y,S1986FALK inhibitorCeritinibResistantCase reportPMID:27401242RDientsmann07/17LUADTRUECeritinib (ALK inhibitor)Lung adenocarcinoma
GNA11 (Q209L,Q209P)GNA11MUTGNA11:Q209L,Q209P[PI3K pathway inhibitor;MEK inhibitor][]ResponsivePre-clinicalPMID:22733540;PMID:22808163RDientsmann01/16CMTRUEPI3K pathway inhibitor + MEK inhibitorsCutaneous melanoma
GNA11 (Q209L,Q209P)GNA11MUTGNA11:Q209L,Q209PMEK inhibitorSelumetinibResponsiveEarly trialsASCO 2013 (abstr CRA9003)RDientsmann01/16CMTRUESelumetinib (MEK inhibitor)Cutaneous melanoma
GNA11 (Q209L,Q209P)GNA11MUTGNA11:Q209L,Q209PHDAC inhibitorVorinostatResponsivePre-clinicalNCT01587352RDientsmann01/16CMTRUEVorinostat (HDAC inhibitor)Cutaneous melanoma
GNAQ (Q209)GNAQMUTGNAQ:Q209.[HDAC inhibitor][]ResponsivePre-clinicalNCT01587352RDientsmann01/16CMTRUEHDAC inhibitorsCutaneous melanoma
GNAQ (Q209)GNAQMUTGNAQ:Q209.[PI3K pathway inhibitor;MEK inhibitor][]ResponsivePre-clinicalPMID:22733540;PMID:22808163RDientsmann01/16CMTRUEPI3K pathway inhibitor + MEK inhibitorsCutaneous melanoma
GNAQ (Q209)GNAQMUTGNAQ:Q209.[PKC inhibitor][]ResponsivePre-clinicalPMID:22653968;PMID:22253748RDientsmann01/16CMTRUEPKC inhibitorsCutaneous melanoma
GNAQ (Q209)GNAQMUTGNAQ:Q209.MEK inhibitorSelumetinibResponsiveEarly trialsASCO 2013 (abstr CRA9003)RDientsmann01/16CMTRUESelumetinib (MEK inhibitor)Cutaneous melanoma
GNAS (R201)GNASMUTGNAS:R201.[JAK inhibitor][]ResponsivePre-clinicalPMID:21835143RDientsmannCANCERTRUEJAK inhibitorsAny cancer type
HDAC2 biallelic inactivationHDAC2BIAHDAC2:.PARP inhibitorOlaparibResponsiveCase reportPMID:26510020RDientsmann;CRubio-Perez01/16PRADTRUEOlaparib (PARP inhibitor)Prostate adenocarcinoma
HGF overexpressionHGFEXPRHGF:overIndirectApprovedPan-kinase inhibitorCabozantinibResponsivePre-clinicalXenograftPMID:25534569CRubio-Perez;ARodriguez-VidaUTCTRUECabozantinib (Pan-kinase inhibitor)Urinary tract carcinoma
BRAF (V600E)BRAFMUTBRAF:V600EEGFR mAb inhibitorCetuximabResistantLate trialsPMID:20619739;PMID:21163703;PMID:23325582RDientsmannCOREADTRUECetuximab (EGFR mAb inhibitor)Colorectal adenocarcinoma
HIF1A overexpressionHIF1AEXPRHIF1A:overIndirectApprovedPan-TK inhibitorSunitinibResponsivePre-clinicalCell linePMID:24086736ARodriguez-Vida09/15RTRUESunitinib (Pan-TK inhibitor)Renal
HRAS oncogenic mutationHRASMUTHRAS:.[MEK inhibitor +/- MTOR inhibitor][]ResponsivePre-clinicalPMID:22399013;PMID:22507781RDientsmannAMLTRUEMEK inhibitor +/- MTOR inhibitorsAcute myeloid leukemia
HRAS oncogenic mutationHRASMUTHRAS:.[MTOR inhibitor][]ResponsivePre-clinicalPMID:22345164RDientsmann01/16CESCTRUEMTOR inhibitorsCervix squamous cell
HRAS oncogenic mutationHRASMUTHRAS:.[PI3K pathway inhibitor;MEK inhibitor][]ResponsivePre-clinicalPMID:15950068RDientsmannCERTRUEPI3K pathway inhibitor + MEK inhibitorsCervix
HRAS oncogenic mutationHRASMUTHRAS:.Farnesyltransferase inhibitorTipifarnibResponsiveEarly trialsNCT02383927RDientsmann01/16CANCERTRUETipifarnib (Farnesyltransferase inhibitor)Any cancer type
HRAS oncogenic mutationHRASMUTHRAS:.Clinical TrialsFarnesyltransferase inhibitorTipifarnibResponsiveEarly trialsNCT02383927RDientsmann11/15CANCERTRUETipifarnib (Farnesyltransferase inhibitor)Any cancer type
IDH1 oncogenic mutationIDH1MUTIDH1:.[BCL2 inhibitor][]ResponsivePre-clinicalPMID:25599133RDientsmann01/16AMLTRUEBCL2 inhibitorsAcute myeloid leukemia
IDH1 oncogenic mutationIDH1MUTIDH1:.[IDH1 inhibitor][]ResponsiveEarly trialsENA 2014 (abstr 1LBA)RDientsmann01/16AMLTRUEIDH1 inhibitorsAcute myeloid leukemia
IDH1 (R132)IDH1MUTIDH1:R132.[PARP inhibitor][]ResponsivePre-clinicalPMID:28148839RDientsmann07/17CANCERTRUEPARP inhibitorsAny cancer type
IDH1 oncogenic mutationIDH1MUTIDH1:.DirectClinical TrialsIDH1 inhibitorAG-120ResponsiveEarly trialsNCT02073994;PMID:23558169MMartínez;RDientsmann;CRubio-Perez09/15GTRUEAG-120 (IDH1 inhibitor)Glioma
IDH1 oncogenic mutationIDH1MUTIDH1:.IndirectClinical TrialsBCR-ABL inhibitor 2nd genDasatinibResponsiveEarly trialsNCT02428855CRubio-PerezCHTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Cholangiocarcinoma
IDH1 (R132)IDH1MUTIDH1:R132.BCR-ABL inhibitor 2nd genDasatinibResponsivePre-clinicalPMID:27231123RDientsmann07/16BTTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Billiary tract
IDH1 oncogenic mutationIDH1MUTIDH1:.BCL2 inhibitorVenetoclaxResponsiveEarly trialsPMID:27520294DTamborero;CRubio-Perez10/16AMLTRUEITD (codified as inframe) in Juxtamembrane domainVenetoclax (BCL2 inhibitor)Acute myeloid leukemia
IDH2 (R140K,R172K)IDH2MUTIDH2:R140K,R172KDirectClinical TrialsIDH2 inhibitorAG-221ResponsiveEarly trialsAACR 2014 (abstr CT103)RDientsmannHEMATOTRUEAG-221 (IDH2 inhibitor)Hematologic malignancies
IDH2 oncogenic mutationIDH2MUTIDH2:.IndirectClinical TrialsBCR-ABL inhibitor 2nd genDasatinibResponsiveEarly trialsNCT02428855CRubio-PerezCHTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Cholangiocarcinoma
IDH2 (R172)IDH2MUTIDH2:R172.BCR-ABL inhibitor 2nd genDasatinibResponsivePre-clinicalPMID:27231123RDientsmann07/16BTTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Billiary tract
IDH2 oncogenic mutationIDH2MUTIDH2:.BCL2 inhibitorVenetoclaxResponsiveEarly trialsPMID:27520294DTamborero;CRubio-Perez10/16AMLTRUEITD (codified as inframe) in Juxtamembrane domainVenetoclax (BCL2 inhibitor)Acute myeloid leukemia
EGFR (S464L,G465R,I491M)EGFRMUTEGFR:S464L,G465R,I491MApprovedEGFR mAb inhibitorCetuximabResistantPre-clinicalPMID:25623215RDientsmannCOREADTRUECetuximab (EGFR mAb inhibitor)Colorectal adenocarcinoma
EGFR (S492R,G465R,R451C,K467T)EGFRMUTEGFR:S492R,G465R,R451C,K467TEGFR mAb inhibitorCetuximabResistantCase reportPMID:22270724;PMID:26059438;PMID:25623215;PMID:22270724;PMID:26888827RDientsmann07/16COREADTRUECetuximab (EGFR mAb inhibitor)Colorectal adenocarcinoma
IL7R inframe insertion (237-255),inframe deletion (237-255) + SH2B3 deletionIL7R;SH2B3MUT;CNAIL7R::consequence::inframe_insertion:237-255,::inframe_deletion:237-255;SH2B3:del[MTOR inhibitor][]ResponsivePre-clinicalPMID:22955920RDientsmann01/16ALLTRUEMTOR inhibitorsAcute lymphoblastic leukemia
IL7R (S185C) + SH2B3 deletionIL7R;SH2B3MUT;CNAIL7R:S185C;SH2B3:del[MTOR inhibitor][]ResponsivePre-clinicalPMID:22955920RDientsmann01/16ALLTRUEMTOR inhibitorsAcute lymphoblastic leukemia
IL7R inframe insertion (237-255),inframe deletion (237-255) + SH2B3 deletionIL7R;SH2B3MUT;CNAIL7R::consequence::inframe_insertion:237-255,::inframe_deletion:237-255;SH2B3:delJAK inhibitorRuxolitinibResponsivePre-clinicalPMID:22897847;PMID:22955920RDientsmann01/16ALLTRUERuxolitinib (JAK inhibitor)Acute lymphoblastic leukemia
IL7R (S185C) + SH2B3 deletionIL7R;SH2B3MUT;CNAIL7R:S185C;SH2B3:delJAK inhibitorRuxolitinibResponsivePre-clinicalPMID:22897847;PMID:22955920RDientsmann01/16ALLTRUERuxolitinib (JAK inhibitor)Acute lymphoblastic leukemia
INPP4B oncogenic mutationINPP4BMUTINPP4B:.[PI3K pathway inhibitor][]ResponsivePre-clinicalPMID:23551093RDientsmannBRCATRUEPI3K pathway inhibitorsBreast adenocarcinoma
INPP4B deletionINPP4BCNAINPP4B:del[PI3K pathway inhibitor][]ResponsivePre-clinicalPMID:23551093RDientsmannBRCATRUEPI3K pathway inhibitorsBreast adenocarcinoma
KRAS oncogenic mutationKRASMUTKRAS:.[EZH2 inhibitor][]ResistantPre-clinicalPMID:26552009RDientsmann01/16CANCERTRUEEZH2 inhibitorsAny cancer type
KRAS oncogenic mutationKRASMUTKRAS:.[PI3K pathway inhibitor][]ResistantPre-clinicalPMID:22662154RDientsmannEDTRUEPI3K pathway inhibitorsEndometrium
JAK1 (S646F;R683)JAK1MUTJAK1:S646F,R683.JAK inhibitorRuxolitinibResponsivePre-clinicalPMID:22955920;PMID:18805579RDientsmann01/16ALLTRUERuxolitinib (JAK inhibitor)Acute lymphoblastic leukemia
JAK2 (V617F)JAK2MUTJAK2:V617F[JAK inhibitor (alone or in combination)][]ResponsivePre-clinicalPMID:22829971RDientsmann01/16AMLTRUEJAK inhibitor (alone or in combination)sAcute myeloid leukemia
JAK2 amplificationJAK2CNAJAK2:amp[JAK inhibitor][]ResponsivePre-clinicalPMID:27075627RDientsmann06/16BRCATRUEJAK inhibitorsBreast adenocarcinoma
NRAS (12,13,59,61,117,146)NRASMUTNRAS:.12.,.13.,.59.,.61.,.117.,.146.ApprovedEGFR mAb inhibitorPanitumumabResistantFDA guidelinesFDA guidelinesRDientsmannCOREADTRUEPanitumumab (EGFR mAb inhibitor)Colorectal adenocarcinoma
JAK2-BRAF fusionJAK2FUSJAK2__BRAFJAK inhibitorRuxolitinibResponsivePre-clinicalPMID:22875628;PMID:22899477RDientsmann01/16ALLTRUERuxolitinib (JAK inhibitor)Acute lymphoblastic leukemia
JAK2 (V617F)JAK2MUTJAK2:V617FJAK inhibitorRuxolitinibResponsiveEarly trialsPMID:22422826RDientsmann01/16AMLTRUERuxolitinib (JAK inhibitor)Acute myeloid leukemia
JAK2 (V617F)JAK2MUTJAK2:V617FApprovedJAK inhibitorRuxolitinibResponsiveFDA guidelinesFDARDientsmannMYTRUERuxolitinib (JAK inhibitor)Myelofibrosis
JAK3 (A572V,A573V)JAK3MUTJAK3:A572V,A573V[JAK inhibitor][]ResponsivePre-clinicalPMID:22705984RDientsmannLYTRUEJAK inhibitorsLymphoma
JAK3 (R657Q,I87T,Q501H)JAK3MUTJAK3:R657Q,I87T,Q501H[JAK inhibitor][]ResponsivePre-clinicalPMID:18397343RDientsmannMKBTRUEJAK inhibitorsMegakaryoblastic leukemia
KCNJ5 (L168R)KCNJ5MUTKCNJ5:L168RIndirectApprovedNa-Ca chanel blockerAmilorideResponsivePre-clinicalCell linePMID:24506072ECampoAATRUEAmiloride (Na-Ca chanel blocker)Adrenal adenoma
KCNJ5 (L168R)KCNJ5MUTKCNJ5:L168RIndirectApprovedNa-Ca chanel blockerVerapamilResponsivePre-clinicalCell linePMID:24506072ECampoAATRUEVerapamil (Na-Ca chanel blocker)Adrenal adenoma
KDR (A1065T)KDRMUTKDR:A1065T[VEGFR inhibitor][]ResponsivePre-clinicalPMID:24569783RDientsmannCANCERTRUEVEGFR inhibitorsAny cancer type
KIT mutation in exon 11KITMUTKIT:550-592[HSP90 inhibitor][]ResponsiveEarly trialsPMID:22898035RDientsmann01/16GISTTRUEHSP90 inhibitorsGastrointestinal stromal
KIT mutation in exon 9 or 17KITMUTKIT:788-828,449-514[HSP90 inhibitor][]ResponsivePre-clinicalPMID:21737509RDientsmann01/16GISTTRUEHSP90 inhibitorsGastrointestinal stromal
KIT wildtypeKITMUTKIT::wildtype:.BCR-ABL inhibitor 2nd genDasatinibResponsivePre-clinicalPMID:16397263RDientsmann01/16GISTTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Gastrointestinal stromal
KIT mutation in exon 9,11,13,14 or 17KITMUTKIT:550-592,627-664BCR-ABL inhibitor 2nd genDasatinibResponsiveCase reportPMID:19671763RDientsmann01/16CMTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Cutaneous melanoma
KIT (D816V)KITMUTKIT:D816VBCR-ABL inhibitor 2nd genDasatinibResponsiveEarly trialsPMID:18559612RDientsmann01/16SMTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Systemic mastocytosis
KIT (D816V)KITMUTKIT:D816VBCR-ABL inhibitor 2nd genDasatinibResponsiveCase reportPMID:18986703RDientsmann01/16AMLTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Acute myeloid leukemia
KIT (D816Y,D816F,D816V)KITMUTKIT:D816Y,D816F,D816VBCR-ABL inhibitor 2nd genDasatinibResponsivePre-clinicalPMID:16397263CRubio-Perez;RDientsmannCANCERTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Any cancer type
KIT (N822K)KITMUTKIT:N822KBCR-ABL inhibitor 2nd genDasatinibResponsivePre-clinicalPMID:23149070RDientsmannAMLTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Acute myeloid leukemia
KIT inframe deletion (416-422),inframe insertion (416-422)KITMUTKIT::consequence::inframe_deletion:416-422,::inframe_insertion:416-422BCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResponsivePre-clinicalPMID:15618474RDientsmannAMLTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Acute myeloid leukemia
KIT inframe deletion (V560)KITMUTKIT::consequence::inframe_deletion:V560.BCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResponsiveCase reportPMID:15201427RDientsmann01/16THYMTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Thymic
PIK3CA oncogenic mutationPIK3CAMUTPIK3CA:.EGFR mAb inhibitorCetuximabResistantLate trialsPMID:19223544;PMID:20619739RDientsmann01/16COREADTRUECetuximab (EGFR mAb inhibitor)Colorectal adenocarcinoma
KIT mutation in exon 9,11,13,14 or 17KITMUTKIT:449-514,550-592,627-664,664-714,788-828ApprovedBCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResponsiveFDA guidelinesFDACRubio-Perez;DTamborero;RDientsmannGISTTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Gastrointestinal stromal
KIT mutation in exon 9,11,13,14 or 17KITMUTKIT:550-592,627-664BCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResponsiveLate trialsPMID:18421059;PMID:21642685;PMID:21690468;PMID:22261812RDientsmann01/16CMTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Cutaneous melanoma
KIT mutation in exon 9,11,13,14 or 17KITMUTKIT:550-592,627-664ApprovedBCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResponsiveNCCN guidelinesNCCNRDientsmannCMTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Cutaneous melanoma
PTEN biallelic inactivationPTENBIAPTEN:.ApprovedEGFR mAb inhibitorCetuximabResistantCase reportCaris molecular intelligenceDTamboreroCOREADTRUECetuximab (EGFR mAb inhibitor)Colorectal adenocarcinoma
ERCC1 overexpressionERCC1EXPRERCC1:overApprovedChemotherapyCisplatinResistantPre-clinicalPMID:20846399;PMID:21177407ARodriguez-Vida09/15BLCABLCATRUECisplatin (Chemotherapy)Bladder
MDM2 amplificationMDM2CNAMDM2:ampChemotherapyCisplatinResistantEarly trialsPMID:27646943RDientsmann12/16MGCTTRUECisplatin (Chemotherapy)Male germ cell tumor
TP53 oncogenic mutationTP53MUTTP53:.ChemotherapyCisplatinResistantEarly trialsPMID:27646943RDientsmann12/16FGCT;MGCTTRUECisplatin (Chemotherapy)Female germ cell tumor;Male germ cell tumor
ALK inframe insertion (1151T)ALKMUTALK::consequence::inframe_insertion:.1151T.ALK inhibitorCrizotinibResistantCase reportPMID:22277784RDientsmannLUADTRUECrizotinib (ALK inhibitor)Lung adenocarcinoma
KIT (D820Y)KITMUTKIT:D820YBCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResponsiveCase reportPMID:23775962RDientsmann01/16CMTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Cutaneous melanoma
ALK oncogenic mutationALKMUTALK:.ApprovedALK inhibitorCrizotinibResistantClinical trialsPMID:22235099EArriola09/15NSCLCTRUECrizotinib (ALK inhibitor)Non-small cell lung
ALK amplificationALKCNAALK:ampApprovedALK inhibitorCrizotinibResistantClinical trialsPMID:22235099EArriola09/15NSCLCTRUECrizotinib (ALK inhibitor)Non-small cell lung
KIT (Y553N)KITMUTKIT:Y553NBCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResponsiveCase reportPMID:21969494RDientsmann01/16THYMTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Thymic
KIT mutation in exon 9,11,13,14 or 17KITMUTKIT:550-592,627-664BCR-ABL inhibitor 2nd genNilotinibResponsiveEarly trialsPMID:22068222;PMID:25695690RDientsmann01/16CMTRUENilotinib (BCR-ABL inhibitor 2nd gen)Cutaneous melanoma
KIT mutation in exon 17KITMUTKIT:788-828BCR-ABL inhibitor 2nd genNilotinibResponsiveEarly trialsPMID:22119758;PMID:21456006RDientsmann01/16GISTTRUENilotinib (BCR-ABL inhibitor 2nd gen)Gastrointestinal stromal
KIT (D820Y)KITMUTKIT:D820YBCR-ABL inhibitor 2nd genNilotinibResponsiveCase reportPMID:25695690RDientsmann01/16CMTRUENilotinib (BCR-ABL inhibitor 2nd gen)Cutaneous melanoma
KIT (788-828,829-860,550-592)KITMUTKIT:788-828,829-860,550-592BCR-ABL inhibitor 3rd gen&Pan-TK inhibitorPonatinibResponsiveEarly trialsASCO 2015 (abstr 10517);PMID:25239608;ASCO 2015 (abstr 10535)RDientsmann01/16GISTTRUEPonatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)Gastrointestinal stromal
KIT (A829P,V654A,T670I)KITMUTKIT:A829P,V654A,T670IBCR-ABL inhibitor 3rd gen&Pan-TK inhibitorPonatinibResponsivePre-clinicalPMID:25239608RDientsmannGISTTRUEPonatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)Gastrointestinal stromal
KIT mutation in exon 9,11,13,14 or 17KITMUTKIT:449-514,550-592,627-664,664-714,788-828ApprovedPan-kinase inhibitorRegorafenibResponsiveFDA guidelinesFDARDientsmannGISTTRUEExon 9,11,14,17Regorafenib (Pan-kinase inhibitor)Gastrointestinal stromal
KIT inframe deletion (577-579)KITMUTKIT::consequence::inframe_deletion:577-579Pan-TK inhibitorSorafenibResponsiveCase reportPMID:20970876RDientsmann01/16THYMTRUESorafenib (Pan-TK inhibitor)Thymic
KIT wildtypeKITMUTKIT::wildtype:.Pan-TK inhibitorSorafenibResponsiveEarly trialsASCO 2011 (abstr 10009)RDientsmann01/16GISTTRUESorafenib (Pan-TK inhibitor)Gastrointestinal stromal
KIT mutation in exon 9 or 11KITMUTKIT:550-592,449-514Pan-TK inhibitorSorafenibResponsiveEarly trialsPMID:22270258RDientsmann01/16GISTTRUESorafenib (Pan-TK inhibitor)Gastrointestinal stromal
KIT (550-592,627-664,788-828,829-860)KITMUTKIT:550-592,627-664,788-828,829-860Pan-TK inhibitorSorafenibResponsiveCase reportPMID:18936790;PMID:20372153RDientsmann01/16CMTRUESorafenib (Pan-TK inhibitor)Cutaneous melanoma
KIT mutation in exon 17KITMUTKIT:788-828Pan-TK inhibitorSorafenibResponsivePre-clinicalPMID:23840364RDientsmann01/16GISTTRUESorafenib (Pan-TK inhibitor)Gastrointestinal stromal
KIT (D820E)KITMUTKIT:D820EPan-TK inhibitorSorafenibResponsiveCase reportPMID:19461405RDientsmann01/16THYMTRUESorafenib (Pan-TK inhibitor)Thymic
KIT wildtypeKITMUTKIT::wildtype:.Pan-TK inhibitorSunitinibResponsiveLate trialsPMID:18955458RDientsmann01/16GISTTRUESunitinib (Pan-TK inhibitor)Gastrointestinal stromal
KIT mutation in exon 9,11,13,14 or 17KITMUTKIT:449-514,550-592,627-664,664-714,788-828ApprovedPan-TK inhibitorSunitinibResponsiveFDA guidelinesFDARDientsmannGISTTRUESunitinib (Pan-TK inhibitor)Gastrointestinal stromal
ALK amplificationALKCNAALK:ampALK inhibitorCrizotinibResistantCase reportPMID:22277784RDientsmannLUADTRUECrizotinib (ALK inhibitor)Lung adenocarcinoma
KIT mutation in exon 9,11,13,14 or 17KITMUTKIT:550-592,627-664Pan-TK inhibitorSunitinibResponsiveLate trialsPMID:18421059;PMID:21642685;PMID:21690468;PMID:22261812RDientsmann01/16CMTRUESunitinib (Pan-TK inhibitor)Cutaneous melanoma
ALK (C1156Y,L1196M)ALKMUTALK:C1156Y,L1196MApprovedALK inhibitorCrizotinibResistantCase reportPMID:20979473EArriola09/15NSCLCTRUECrizotinib (ALK inhibitor)Non-small cell lung
ALK (F1174L)ALKMUTALK:F1174LALK inhibitorCrizotinibResistantPre-clinicalPMID:22072639RDientsmannGTRUECrizotinib (ALK inhibitor)Glioma
KIT (H697Y)KITMUTKIT:H697YPan-TK inhibitorSunitinibResponsivePre-clinicalPMID:19861435RDientsmann01/16THYMTRUESunitinib (Pan-TK inhibitor)Thymic
KIT (H697Y)KITMUTKIT:H697YPan-TK inhibitorSunitinibResponsivePre-clinicalPMID:19861435RDientsmannTHYMTRUESunitinib (Pan-TK inhibitor)Thymic
KIT (Y553N)KITMUTKIT:Y553NPan-TK inhibitorSunitinibResponsiveCase reportPMID:23375402RDientsmann01/16THYMTRUESunitinib (Pan-TK inhibitor)Thymic
KRAS (12,13,59,61,117,146)KRASMUTKRAS:.12.,.13.,.59.,.61.,.117.,.146.ApprovedEGFR mAb inhibitorPanitumumabResistantFDA guidelinesFDA guidelinesCRubio-Perez;RDientsmannCOREADTRUEPanitumumab (EGFR mAb inhibitor)Colorectal adenocarcinoma
KRAS (G12)KRASMUTKRAS:G12.BCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResistantCase reportPMID:24687822RDientsmannGISTTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Gastrointestinal stromal
KRAS oncogenic mutationKRASMUTKRAS:.ApprovedEGFR mAb inhibitorPanitumumabResistantNCCN guidelinesNCCN guidelinesRDientsmannCOREADTRUEPanitumumab (EGFR mAb inhibitor)Colorectal adenocarcinoma
KRAS oncogenic mutationKRASMUTKRAS:.ApprovedEGFR mAb inhibitorCetuximabResistantNCCN guidelinesNCCN guidelinesRDientsmannCOREADTRUECetuximab (EGFR mAb inhibitor)Colorectal adenocarcinoma
ALK (L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171T)ALKMUTALK:L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171TALK inhibitorCrizotinibResistantCase reportPMID:22277784;PMID:25228534RDientsmannLUADTRUECrizotinib (ALK inhibitor)Lung adenocarcinoma
MET (Y1230C,Y1235D)METMUTMET:Y1230C,Y1235DALK inhibitorCrizotinibResistantPre-clinicalPMID:17483355RDientsmannCANCERTRUECrizotinib (ALK inhibitor)Any cancer type
KRAS oncogenic mutationKRASMUTKRAS:.[EGFR inhibitor][]ResistantNCCN guidelinesNCCN guidelinesRDientsmannLTRUEEGFR inhibitorsLung
KRAS oncogenic mutationKRASMUTKRAS:.ERBB2 mAb inhibitor;ERBB2 inhibitorTrastuzumab;LapatinibResistantLate trialsASCO 2015 (abstr 3508);NCT01104571;EBCC10RDientsmann01/16COREADTRUETrastuzumab + Lapatinib (ERBB2 mAb inhibitor + ERBB2 inhibitor)Colorectal adenocarcinoma
ROS1 (G2032R)ROS1MUTROS1:G2032RApprovedALK inhibitorCrizotinibResistantCase reportPMID:23724914;PMID:25688157RDientsmannLUADTRUECrizotinib (ALK inhibitor)Lung adenocarcinoma
ROS1 (S1986Y,S1986F)ROS1MUTROS1:S1986Y,S1986FALK inhibitorCrizotinibResistantCase reportPMID:27401242RDientsmann07/17LUADTRUECrizotinib (ALK inhibitor)Lung adenocarcinoma
KRAS oncogenic mutationKRASMUTKRAS:.[BET inhibitor][]ResponsivePre-clinicalPMID:23129625;PMID:24045185RDientsmann04/16LTRUEBET inhibitorsLung
KRAS oncogenic mutationKRASMUTKRAS:.[CDK4 inhibitor][]ResponsivePre-clinicalPMID:20609353RDientsmann04/16LTRUECDK4 inhibitorsLung
KRAS oncogenic mutationKRASMUTKRAS:.[CDK4/6 inhibitor;MEK inhibitor][]ResponsiveEarly trialsAACR 2017 (CT046)RDientsmann07/17LTRUECDK4/6 inhibitor + MEK inhibitorsLung
KRAS oncogenic mutationKRASMUTKRAS:.[CDK4/6 inhibitor;MEK inhibitor][]ResponsivePre-clinicalPMID:27167191RDientsmann07/17CESCTRUECDK4/6 inhibitor + MEK inhibitorsCervix squamous cell
KRAS oncogenic mutationKRASMUTKRAS:.[EGFR mAb inhibitor;MEK inhibitor][]ResponsivePre-clinicalPMID:24553387RDientsmann01/16COREADTRUEEGFR mAb inhibitor + MEK inhibitorsColorectal adenocarcinoma
KRAS oncogenic mutationKRASMUTKRAS:.[ERK inhibitor][]ResponsivePre-clinicalPMID:23614898RDientsmann01/16COREADTRUEERK inhibitorsColorectal adenocarcinoma
KRAS oncogenic mutationKRASMUTKRAS:.[FAK inhibitor][]ResponsivePre-clinicalPMID:23358651RDientsmann04/16LTRUEFAK inhibitorsLung
KRAS oncogenic mutationKRASMUTKRAS:.[FAS inhibitor][]ResponsiveCase reportAACR 2016;abstrRDientsmann04/16LTRUEFAS inhibitorsLung
KRAS oncogenic mutationKRASMUTKRAS:.[FAS inhibitor][]ResponsiveCase reportAACR 2016, abstr LB214RDientsmann06/16LTRUEFAS inhibitorsLung
KRAS oncogenic mutationKRASMUTKRAS:.[HSP90 inhibitor (in combination)][]ResponsivePre-clinicalPMID:23012248;PMID:21907929RDientsmann04/16LTRUEHSP90 inhibitor (in combination)sLung
KRAS oncogenic mutationKRASMUTKRAS:.[JAK/TBK1/IKKε inhibitor][]ResponsivePre-clinicalPMID:24444711RDientsmann04/16LTRUEJAK/TBK1/IKKε inhibitorsLung
KRAS oncogenic mutationKRASMUTKRAS:.[MEK inhibitor;BCL-XL inhibitor][]ResponsivePre-clinicalPMID:23245996RDientsmann01/16COREADTRUEMEK inhibitor + BCL-XL inhibitorsColorectal adenocarcinoma
KRAS oncogenic mutationKRASMUTKRAS:.[MEK inhibitor;IGF1R inhibitor][]ResponsivePre-clinicalPMID:24045180RDientsmann01/16COREADTRUEMEK inhibitor + IGF1R inhibitorsColorectal adenocarcinoma
KRAS oncogenic mutationKRASMUTKRAS:.[MEK inhibitor;PI3K pathway inhibitor][]ResponsivePre-clinicalPMID:22392911RDientsmann01/16COREADTRUEMEK inhibitor + PI3K pathway inhibitorsColorectal adenocarcinoma
ABL1 (V299L,T315A,F317L,F317V,F317I,F317C)ABL1MUTABL1:V299L,T315A,F317L,F317V,F317I,F317CApprovedBCR-ABL inhibitor 2nd genDasatinibResistantEuropean LeukemiaNet guidelinesPMID:21562040CRubio-Perez12/15CML;AMLTRUEHas to be recheckedDasatinib (BCR-ABL inhibitor 2nd gen)Chronic myeloid leukemia;Acute myeloid leukemia
KRAS oncogenic mutationKRASMUTKRAS:.[MEK inhibitor][]ResponsiveEarly trialsPMID:23200175;PMID:24947927;PMID:25667274;PMID:25722381;PMID:23391555RDientsmann04/16L;BTTRUEMEK inhibitorsLung;Billiary tract
KRAS oncogenic mutationKRASMUTKRAS:.[MEK inhibitor][]ResponsivePre-clinicalPMID:22507781;PMID:22169769;PMID:19018267RDientsmannAML;CER;OVTRUEMEK inhibitorsAcute myeloid leukemia;Cervix;Ovary
NF1 oncogenic mutationNF1MUTNF1:.BCR-ABL inhibitor 2nd genDasatinibResistantPre-clinicalPMID:24296828RDientsmann07/16LTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Lung
KRAS (G12)KRASMUTKRAS:G12.[MEK inhibitor][]ResponsivePre-clinicalPMID:18701506RDientsmann01/16ALLTRUEMEK inhibitorsAcute lymphoblastic leukemia
NF1 deletionNF1CNANF1:delBCR-ABL inhibitor 2nd genDasatinibResistantPre-clinicalPMID:24296828RDientsmann07/16LTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Lung
FGFR2 (V565I,M536I,M538I,I548V,N550,E566G,L618M,K660E)FGFR2MUTFGFR2:V565I,M536I,M538I,I548V,N550.,E566G,L618M,K660EFGFR inhibitorDovitinibResistantPre-clinicalPMID:23908597RDientsmannEDTRUEDovitinib (FGFR inhibitor)Endometrium
KRAS oncogenic mutationKRASMUTKRAS:.[MTOR inhibitor;BH3 mimetics][]ResponsivePre-clinicalPMID:24163374RDientsmann01/16COREADTRUEMTOR inhibitor + BH3 mimeticssColorectal adenocarcinoma
KRAS oncogenic mutationKRASMUTKRAS:.[pan-RAF inhibitor][]ResponsiveEarly trialsAACR 2017 (abstr CT002)RDientsmann07/17LTRUEpan-RAF inhibitorsLung
AR (F877L)ARMUTAR:F877LAR inhibitorEnzalutamideResistantCase reportPMID:23779130RDientsmann;ARodriguez-Vida09/15PRADPRADTRUEREMAP:F876L to F877L the previous mutation was not found in . transcript to our knowledge.Enzalutamide (AR inhibitor)Prostate adenocarcinoma
KRAS oncogenic mutationKRASMUTKRAS:.[pan-RAF inhibitor][]ResponsiveCase reportAACR 2016 (abstr CT005);AACR 2017 (abstr CT002)RDientsmann07/17EDTRUEpan-RAF inhibitorsEndometrium
KRAS oncogenic mutationKRASMUTKRAS:.[PI3K pathway inhibitor;MEK inhibitor][]ResponsivePre-clinicalPMID:21984976;PMID:22662154RDientsmann07/17EDTRUEPI3K pathway inhibitor + MEK inhibitorsEndometrium
KRAS oncogenic mutationKRASMUTKRAS:.[PI3K pathway inhibitor;MEK inhibitor][]ResponsiveEarly trialsPMID:25516890RDientsmann04/16LTRUEPI3K pathway inhibitor + MEK inhibitorsLung
EGFR amplificationEGFRCNAEGFR:ampApprovedEGFR inhibitor 1st genErlotinibNo ResponsiveEarly trialsASCO2015(abstre19028)RDientsmannLTRUEErlotinib (EGFR inhibitor 1st gen)Lung
EGFR (S720)EGFRMUTEGFR:S720.EGFR inhibitor 1st genErlotinibNo ResponsiveCase reportPMID:26773740RDientsmann12/16LTRUEErlotinib (EGFR inhibitor 1st gen)Lung
KRAS oncogenic mutationKRASMUTKRAS:.CDK4/6 inhibitorAbemaciclibResponsiveEarly trialsPMID:27217383RDientsmann;DTamborero;CRubio-Perez07/17LTRUEAbemaciclib (CDK4/6 inhibitor)Lung
IGF1R amplificationIGF1RCNAIGF1R:ampEGFR inhibitor 1st genErlotinibResistantPre-clinicalPMID:24458568RDientsmannLUADTRUEErlotinib (EGFR inhibitor 1st gen)Lung adenocarcinoma
NF1 oncogenic mutationNF1MUTNF1:.EGFR inhibitor 1st genErlotinibResistantPre-clinicalPMID:24535670RDientsmann07/16LTRUEErlotinib (EGFR inhibitor 1st gen)Lung
NF1 deletionNF1CNANF1:delEGFR inhibitor 1st genErlotinibResistantPre-clinicalPMID:24535670RDientsmann07/16LTRUEErlotinib (EGFR inhibitor 1st gen)Lung
NF2 oncogenic mutationNF2MUTNF2:.EGFR inhibitor 1st genErlotinibNo ResponsiveEarly trialsPMID:20736812RDientsmann07/16SCHWTRUEgermlineErlotinib (EGFR inhibitor 1st gen)Schwannoma
NF2 deletionNF2CNANF2:delEGFR inhibitor 1st genErlotinibNo ResponsiveEarly trialsPMID:20736812RDientsmann07/16SCHWTRUEgermlineErlotinib (EGFR inhibitor 1st gen)Schwannoma
NF2 oncogenic mutation + EGFR oncogenic mutationNF2;EGFRMUT;MUTNF2:.;EGFR:.EGFR inhibitor 1st gen;EGFR mAb inhibitorErlotinib;CetuximabResistantCase reportPMID:24813888RDientsmann07/16LTRUEIn Egfr Mutant TumorsErlotinib + Cetuximab (EGFR inhibitor 1st gen + EGFR mAb inhibitor)Lung
NF2 deletion + EGFR oncogenic mutationNF2;EGFRCNA;MUTNF2:del;EGFR:.EGFR inhibitor 1st gen;EGFR mAb inhibitorErlotinib;CetuximabResistantCase reportPMID:24813888RDientsmann07/16LTRUEIn Egfr Mutant TumorsErlotinib + Cetuximab (EGFR inhibitor 1st gen + EGFR mAb inhibitor)Lung
MTOR (F2108L)MTORMUTMTOR:F2108LMTOR inhibitorEverolimusResistantCase reportPMID:25295501DTamborero;RDientsmannTHCATRUEMetastatic THCA with superresponse putatively assoiated with TSC2 nonsense mutation developing resistance associated with MTOR mutation after 18monthsEverolimus (MTOR inhibitor)Thyroid carcinoma
MAP2K1 (F129L,L215P,I103N,P124)MAP2K1MUTMAP2K1:F129L,L215P,I103N,P124.[ERK inhibitor][]ResponsivePre-clinicalPMID:23614898RDientsmann01/16CANCERTRUEERK inhibitorsAny cancer type
MAP2K1 (P124)MAP2K1MUTMAP2K1:P124.[ERK inhibitor][]ResponsivePre-clinicalPMID:25370473RDientsmann01/16CMTRUEERK inhibitorsCutaneous melanoma
NF1 oncogenic mutationNF1MUTNF1:.MTOR inhibitorEverolimusNo ResponsiveEarly trialsNCT01365468RDientsmann07/16MPNTRUEgermlineEverolimus (MTOR inhibitor)Malignant peripheral nerve sheat tumor
NF1 deletionNF1CNANF1:delMTOR inhibitorEverolimusNo ResponsiveEarly trialsNCT01365468RDientsmann07/16MPNTRUEgermlineEverolimus (MTOR inhibitor)Malignant peripheral nerve sheat tumor
NF1 oncogenic mutationNF1MUTNF1:.MTOR inhibitor;VEGFR mAb inhibitorEverolimus;BevacizumabNo ResponsiveEarly trialsASCO 2016 (abstr 11053)RDientsmann07/16MPNTRUEgermlineEverolimus + Bevacizumab (MTOR inhibitor + VEGFR mAb inhibitor)Malignant peripheral nerve sheat tumor
MAP2K1 (C121S)MAP2K1MUTMAP2K1:C121S[novel MEK inhibitor][]ResponsivePre-clinicalPMID:24448821RDientsmann01/16CMTRUEnovel MEK inhibitorsCutaneous melanoma
MAP2K1 (K57T)MAP2K1MUTMAP2K1:K57TEGFR mAb inhibitor;MEK inhibitorPanitumumab;TrametinibResponsiveCase reportPMID:26644315RDientsmann04/16COREADTRUEPanitumumab + Trametinib (EGFR mAb inhibitor + MEK inhibitor)Colorectal adenocarcinoma
MAP2K1 inframe deletion (56-60)MAP2K1MUTMAP2K1::consequence::inframe_deletion:56-60MEK inhibitorSelumetinibResponsiveCase reportPMID:26324360RDientsmann01/16OVTRUESelumetinib (MEK inhibitor)Ovary
MAP2K1 (Q56P)MAP2K1MUTMAP2K1:Q56PMEK inhibitorTrametinibResponsivePre-clinicalPMID:26582713RDientsmann04/16CANCERTRUETrametinib (MEK inhibitor)Any cancer type
NF1 deletionNF1CNANF1:delMTOR inhibitor;VEGFR mAb inhibitorEverolimus;BevacizumabNo ResponsiveEarly trialsASCO 2016 (abstr 11053)RDientsmann07/16MPNTRUEgermlineEverolimus + Bevacizumab (MTOR inhibitor + VEGFR mAb inhibitor)Malignant peripheral nerve sheat tumor
MAP2K1 (P124S,I111S) + BRAF oncogenic mutationMAP2K1;BRAFMUT;MUTMAP2K1:P124S,I111S;BRAF:.[BRAF inhibitor][]ResponsiveCase reportPMID:22588879RDientsmann01/16CMTRUEBRAF inhibitorsCutaneous melanoma
NF1 oncogenic mutationNF1MUTNF1:.MTOR inhibitor;EGFR inhibitor 1st genEverolimus;ErlotinibNo ResponsiveCase reportPMID:24634382RDientsmann07/16GTRUEEverolimus + Erlotinib (MTOR inhibitor + EGFR inhibitor 1st gen)Glioma
NF1 deletionNF1CNANF1:delMTOR inhibitor;EGFR inhibitor 1st genEverolimus;ErlotinibNo ResponsiveCase reportPMID:24634382RDientsmann07/16GTRUEEverolimus + Erlotinib (MTOR inhibitor + EGFR inhibitor 1st gen)Glioma
ESR1 oncogenic mutationESR1MUTESR1:.Hormonal therapyExemestaneResistantLate trialsPMID:27269946RDientsmann06/16BRCATRUEExemestane (Hormonal therapy)Breast adenocarcinoma
AR (T878A)ARMUTAR:T878AAR inhibitorFlutamideResistantCase reportPMID:2260966RDientsmann;ARodriguez-Vida09/15PRADPRADTRUEREMAP:T877A to T878A the previous mutation was not found in . transcript to our knowledge.Flutamide (AR inhibitor)Prostate adenocarcinoma
ESR1 (Y537S)ESR1MUTESR1:Y537SHormonal therapyFulvestrantResistantPre-clinicalPMID:27986707RDientsmann07/17BRCATRUEFulvestrant (Hormonal therapy)Breast adenocarcinoma
MDM2 amplificationMDM2CNAMDM2:amp[MDM2 inhibitor][]ResponsiveEarly trialsPMID:23084521;ASCO 2015 (abstr 10564)RDientsmann01/16LIPTRUEMDM2 inhibitorsLiposarcoma
EGFR inframe deletion (L747),inframe insertion (P753PS)EGFRMUTEGFR::consequence::inframe_deletion:L747.,::inframe_insertion:P753PSApprovedEGFR inhibitor 1st genGefitinibNo ResponsiveCase reportPMID:21274259RDientsmannHNCTRUEGefitinib (EGFR inhibitor 1st gen)Head an neck
MDM4 amplificationMDM4CNAMDM4:amp[MDM2/MDMX inhibitor][]ResponsivePre-clinicalPMID:24336067RDientsmannSTRUEMDM2/MDMX inhibitorsSarcoma
EGFR amplificationEGFRCNAEGFR:ampApprovedEGFR inhibitor 1st genGefitinibNo ResponsiveEarly trialsPMID:21274259;PMID:22261807RDientsmannHNCTRUEGefitinib (EGFR inhibitor 1st gen)Head an neck
MET kinase domain mutationMETMUTMET:1078-1345MET inhibitorSavolitinibResponsiveEarly trialsPMID:28644771RDientsmann07/17RTRUESavolitinib (MET inhibitor)Renal
MET amplificationMETCNAMET:amp[BCL2 inhibitor][]ResponsivePre-clinicalPMID:27397505RDientsmann07/16COREADTRUEBCL2 inhibitorsColorectal adenocarcinoma
EGFR (V843I)EGFRMUTEGFR:V843IApprovedEGFR inhibitor 1st genGefitinibNo ResponsiveCase reportPMID:21274259RDientsmannHNCTRUEGefitinib (EGFR inhibitor 1st gen)Head an neck
SLC29A1 oncogenic mutationSLC29A1MUTSLC29A1:.ChemotherapyGemcitabineResistantPre-clinicalPMID:21166756ARodriguez-Vida09/15BLCABLCATRUESLC29A1 is HENT1 used symbolGemcitabine (Chemotherapy)Bladder
MET amplificationMETCNAMET:amp[MET inhibitor][]ResponsiveCase reportENA 2015 (abstract A55)RDientsmann01/16HCTRUEMET inhibitorsHepatic carcinoma
MET amplificationMETCNAMET:amp[MET inhibitor][]ResponsivePre-clinicalPMID:22729845;PMID:23327903RDientsmann01/16STTRUEMET inhibitorsStomach
MET amplificationMETCNAMET:amp[MET inhibitor][]ResponsiveEarly trialsPMID:23213094;AACR 2016 (abstr CT2006)RDientsmann06/16RTRUEMET inhibitorsRenal
BTK (C481)BTKMUTBTK:C481.BTK inhibitorIbrutinibResistantCase reportPMID:25082755RDientsmannMCLTRUEIbrutinib (BTK inhibitor)Mantle cell lymphoma
MET (H1112R)METMUTMET:H1112R[MET inhibitor][]ResponsiveEarly trialsPMID:23213094RDientsmann01/16RTRUEREMAP:H1094r changed to H1112RMET inhibitorsRenal
MET (M1268T)METMUTMET:M1268T[MET inhibitor][]ResponsiveCase reportPMID:23610116RDientsmann01/16RTRUEMET inhibitorsRenal
MET (H1112L)METMUTMET:H1112L[MET inhibitor][Crizotinib]ResponsivePre-clinicalAACR 2012 (abstr 1786)RDientsmannCANCERTRUEMET inhibitors (Crizotinib,etc)Any cancer type
MET amplificationMETCNAMET:ampClinical TrialsPan-kinase inhibitor;EGFR mAb inhibitorCabozantinib;PanitumumabResponsiveCase reportENA 2015 (abstr A52)RDientsmann11/15COREADTRUECabozantinib + Panitumumab (Pan-kinase inhibitor + EGFR mAb inhibitor)Colorectal adenocarcinoma
MET fusionMETFUSMET__.ALK inhibitorCrizotinibResponsiveCase reportPMID:27748748RDientsmann12/16GTRUECrizotinib (ALK inhibitor)Glioma
MET mutation in exon 16-19METMUTMET:1132-1330ALK inhibitorCrizotinibResponsiveEarly trialsAACR 2016 (abstr CT2006)RDientsmann06/16RTRUEEXON 16-19Crizotinib (ALK inhibitor)Renal
MET amplificationMETCNAMET:ampClinical TrialsALK inhibitorCrizotinibResponsiveEarly trialsNCT02499614;ASCO 2015 (abstr 2595)EArriola;CRubio-Perez01/16NSCLCTRUECrizotinib (ALK inhibitor)Non-small cell lung
MET amplificationMETCNAMET:ampALK inhibitorCrizotinibResponsiveEarly trialsASCO 2014 (abstr 8001);ASCO 2015 (abstr 2595);ASCO GI 2015 (abstr 1)RDientsmann01/16LUAD;STTRUECrizotinib (ALK inhibitor)Lung adenocarcinoma;Stomach
MET amplificationMETCNAMET:ampALK inhibitorCrizotinibResponsiveCase reportPMID:22162573RDientsmann01/16GTRUECrizotinib (ALK inhibitor)Glioma
MET (V1110I,H1112R,M1268T,R988C,T1010I)METMUTMET:V1110I,H1112R,M1268T,R988C,T1010IALK inhibitorCrizotinibResponsivePre-clinicalPMID:17483355RDientsmannCANCERTRUEREMAP: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)BTKMUTBTK:C481SBTK inhibitorIbrutinibResistantEarly trialsPMID:24869598;PMID:27199251RDientsmannCLLTRUEIbrutinib (BTK inhibitor)Chronic lymphocytic leukemia
PLCG2 (R665W,L845F)PLCG2MUTPLCG2:R665W,L845FApprovedBTK inhibitorIbrutinibResistantEarly trialsPMID:24869598RDientsmannCLLTRUEIbrutinib (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)ABL1MUTABL1: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,E507GApprovedBCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResistantEuropean LeukemiaNet guidelinesPMID:21562040CRubio-Perez12/15CMLTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Chronic myeloid leukemia
MET amplification + BRAF (V600E)MET;BRAFCNA;MUTMET:amp;BRAF:V600EALK inhibitor;BRAF inhibitorCrizotinib;VemurafenibResponsiveCase reportPMID:27325282RDientsmann12/16COREADTRUECrizotinib + Vemurafenib (ALK inhibitor + BRAF inhibitor)Colorectal adenocarcinoma
KIT wildtypeKITMUTKIT::wildtype:.BCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResistantLate trialsPMID:18955458RDientsmannGISTTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Gastrointestinal stromal
KIT (627-664,664-714,449-514)KITMUTKIT:627-664,664-714,449-514BCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResistantLate trialsPMID:18955458;PMID:18955451;PMID:16624552RDientsmann01/16GISTTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Gastrointestinal stromal
MET amplification + ERBB2 amplificationMET;ERBB2CNA;CNAMET:amp;ERBB2:ampALK inhibitor;ERBB2 mAb inhibitorCrizotinib;TrastuzumabResponsiveCase reportPMID:26432108RDientsmann01/16STTRUECrizotinib + Trastuzumab (ALK inhibitor + ERBB2 mAb inhibitor)Stomach
MET amplification + ERBB2 amplificationMET;ERBB2CNA;CNAMET:amp;ERBB2:ampALK inhibitor;ERBB2 mAb inhibitorCrizotinib;TrastuzumabResponsiveCase reportPMID:26432108RDientsmann01/16STTRUECrizotinib + Trastuzumab (ALK inhibitor + ERBB2 mAb inhibitor)Stomach
KIT mutation in exon 17KITMUTKIT:788-828BCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResistantPre-clinicalPMID:23840364RDientsmann01/16GISTTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Gastrointestinal stromal
KIT mutation in exon 17 or 18KITMUTKIT:788-828,829-860BCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResistantEarly trialsPMID:21690468;PMID:21642685RDientsmannCMTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Cutaneous melanoma
KIT amplificationKITCNAKIT:ampBCR-ABL inhibitor 1st gen&KIT inhibitorImatinibNo ResponsiveEarly trialsPMID:23775962RDientsmannCMTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Cutaneous melanoma
KIT (D816)KITMUTKIT:D816.ApprovedBCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResistantFDA guidelinesFDACRubio-Perez;DTamborero;RDientsmannGIST;MDS;MDPS;HES;ECL;CML;ALL;SMTRUEImatinib (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)KITMUTKIT:T670IBCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResistantFDA guidelinesPMID:24687822RDientsmann;RShadrinaGISTTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Gastrointestinal stromal
MKI67 overexpressionMKI67EXPRMKI67:overIndirectApprovedPan-TK inhibitorSunitinibResponsivePre-clinicalCell linePMID:24086736ARodriguez-Vida09/15RTRUESunitinib (Pan-TK inhibitor)Renal
MLL fusionMLLFUSMLL__.[BET inhibitor][]ResponsivePre-clinicalPMID:21964340RDientsmann01/16AMLTRUEBET inhibitorsAcute myeloid leukemia
MLL fusionMLLFUSMLL__.IndirectApprovedHDAC inhibitorBelinostatResponsiveEarly trialsNCT00351975;NCT00357032;PMID:22015773ECampo;RDientsmannAMLTRUEBelinostat (HDAC inhibitor)Acute myeloid leukemia
MLL fusionMLLFUSMLL__.ApprovedChemotherapyDaunorubicinResponsiveFDA guidelinesPMID:22417203RDientsmannAMLTRUEDaunorubicin (Chemotherapy)Acute myeloid leukemia
MLL fusionMLLFUSMLL__.IndirectClinical TrialsDOTL1 inhibitorEPZ-5676ResponsiveEarly trialsNCT02141828;NCT01684150;PMID:21741596ECampo;RDientsmannAML;ALL;MDSTRUEEPZ-5676 (DOTL1 inhibitor)Acute myeloid leukemia;Acute lymphoblastic leukemia;Myelodisplasic syndrome
MLL2 oncogenic mutationMLL2MUTMLL2:.AR inhibitorBicalutamideResponsivePre-clinicalPMID:27397505RDientsmann07/16LUSCTRUEBicalutamide (AR inhibitor)Lung squamous cell
MPL (W515F)MPLMUTMPL:W515F[JAK inhibitor][]ResponsivePre-clinicalPMID:16834459RDientsmannMDPSTRUEJAK inhibitorsMyelodisplasic proliferative syndrome
MSH3 oncogenic mutationMSH3MUTMSH3:.[DNA-PKc inhibitor][]ResponsivePre-clinicalPMID:24556366RDientsmannCANCERTRUEDNA-PKc inhibitorsAny cancer type
MTOR (F2108L)MTORMUTMTOR:F2108L[MTOR kinase inhibitor][]ResponsivePre-clinicalPMID:25295501RDientsmann01/16CANCERTRUEMTOR kinase inhibitorsAny cancer type
MTOR (E2014K,E2419K,N1421D)MTORMUTMTOR:E2014K,E2419K,N1421DMTOR inhibitorEverolimusResponsiveCase reportPMID:24625776RDientsmann01/16BLCATRUEEverolimus (MTOR inhibitor)Bladder
KIT (V559I,H697Y,T670,V654A,A829P,D816,N822,Y823D)KITMUTKIT:V559I,H697Y,T670.,V654A,A829P,D816.,N822.,Y823DBCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResistantPre-clinicalPMID:23582185;PMID:21689725;PMID:17259998RDientsmannGISTTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Gastrointestinal stromal
MTOR (I1973F)MTORMUTMTOR:I1973FMTOR inhibitorEverolimusResponsiveCase reportASCO 2015 (abstr 11010);PMID:26859683RDientsmann06/16AS;RTRUEEverolimus (MTOR inhibitor)Angiosarcoma;Renal
MTOR (K1771R)MTORMUTMTOR:K1771RMTOR inhibitorEverolimusResponsiveCase reportASCO 2015 (abstr 11010);PMID:26859683RDientsmann01/16ST;AGTRUEEverolimus (MTOR inhibitor)Stomach;Anaplastic oligodendroglioma
MTOR (N1421D)MTORMUTMTOR:N1421DMTOR inhibitorEverolimusResponsiveCase reportPMID:26859683RDientsmann06/16STTRUEEverolimus (MTOR inhibitor)Stomach
MTOR (Q2223K)MTORMUTMTOR:Q2223KMTOR inhibitorEverolimusResponsiveCase reportPMID:24622468RDientsmann01/16RTRUEEverolimus (MTOR inhibitor)Renal
MTOR (L1460P,S2215Y,R2505P)MTORMUTMTOR:L1460P,S2215Y,R2505PMTOR inhibitorSirolimusResponsivePre-clinicalPMID:24631838RDientsmannCANCERTRUESirolimus (MTOR inhibitor)Any cancer type
MYC amplificationMYCCNAMYC:amp[BET inhibitor][]ResponsivePre-clinicalPMID:21889194;PMID:23430699RDientsmannMYMA;NBTRUEBET inhibitorsMyeloma;Neuroblastoma
MYC amplificationMYCCNAMYC:amp[CDK7 inhibitor][]ResponsivePre-clinicalPMID:25416950RDientsmannNBTRUECDK7 inhibitorsNeuroblastoma
MYC amplificationMYCCNAMYC:amp[FACT inhibitor][]ResponsivePre-clinicalPMID:26537256RDientsmann11/15NBTRUEFACT inhibitorsNeuroblastoma
MYC amplificationMYCCNAMYC:amp[PIM inhibitor][]ResponsivePre-clinicalPMID:25505253RDientsmannPRADTRUEPIM inhibitorsProstate adenocarcinoma
MYC amplificationMYCCNAMYC:ampChemotherapyTemozolomideResponsivePre-clinicalPMID:27397505RDientsmann07/16COREADTRUETemozolomide (Chemotherapy)Colorectal adenocarcinoma
KRAS oncogenic mutationKRASMUTKRAS:.Chemotherapy;BCL2 inhibitorDecitabine;BCL2 inhibitorResponsivePre-clinicalPMID:25968887RDientsmann01/16OVTRUEDecitabine + BCL2 inhibitor (Chemotherapy + BCL2 inhibitor)Ovary
MYD88 (L265P)MYD88MUTMYD88:L265PBTK inhibitorIbrutinibResponsiveFDA guidelinesPMID:25853747RDientsmann12/16WMTRUEIbrutinib (BTK inhibitor)Waldenström macroglobulinemia
NF1 oncogenic mutationNF1MUTNF1:.[AURK inhibitor][]ResponsivePre-clinicalPMID:24373973RDientsmann07/16MPNTRUEgermlineAURK inhibitorsMalignant peripheral nerve sheat tumor
NF1 deletionNF1CNANF1:del[AURK inhibitor][]ResponsivePre-clinicalPMID:24373973RDientsmann07/16MPNTRUEgermlineAURK inhibitorsMalignant peripheral nerve sheat tumor
NF1 oncogenic mutationNF1MUTNF1:.[BRD4 inhibitor][]ResponsivePre-clinicalPMID:24373973RDientsmann07/16MPNTRUEgermlineBRD4 inhibitorsMalignant peripheral nerve sheat tumor
NF1 deletionNF1CNANF1:del[BRD4 inhibitor][]ResponsivePre-clinicalPMID:24373973RDientsmann07/16MPNTRUEgermlineBRD4 inhibitorsMalignant peripheral nerve sheat tumor
NF1 oncogenic mutationNF1MUTNF1:.[KIT inhibitor;MTOR inhibitor][]ResponsivePre-clinicalPMID:24718867RDientsmann07/16MPNTRUEgermlineKIT inhibitor + MTOR inhibitorsMalignant peripheral nerve sheat tumor
NF1 deletionNF1CNANF1:del[KIT inhibitor;MTOR inhibitor][]ResponsivePre-clinicalPMID:24718867RDientsmann07/16MPNTRUEgermlineKIT inhibitor + MTOR inhibitorsMalignant peripheral nerve sheat tumor
NF1 oncogenic mutationNF1MUTNF1:.[MEK inhibitor][]ResponsivePre-clinicalPMID:23221341RDientsmann07/16MPNTRUEMEK inhibitorsMalignant peripheral nerve sheat tumor
NF1 oncogenic mutationNF1MUTNF1:.[MEK inhibitor][]ResponsivePre-clinicalPMID:22573716;PMID:19727076RDientsmann07/16G;LKTRUEMEK inhibitorsGlioma;Leukemia
NF1 deletionNF1CNANF1:del[MEK inhibitor][]ResponsivePre-clinicalPMID:23221341RDientsmann07/16MPNTRUEMEK inhibitorsMalignant peripheral nerve sheat tumor
NF1 deletionNF1CNANF1:del[MEK inhibitor][]ResponsivePre-clinicalPMID:22573716;PMID:19727076RDientsmann07/16G;LKTRUEMEK inhibitorsGlioma;Leukemia
NF1 oncogenic mutationNF1MUTNF1:.[MTOR inhibitor;HSP90 inhibitor][]ResponsivePre-clinicalPMID:21907929RDientsmann07/16MPNTRUEgermlineMTOR inhibitor + HSP90 inhibitorsMalignant peripheral nerve sheat tumor
NF1 deletionNF1CNANF1:del[MTOR inhibitor;HSP90 inhibitor][]ResponsivePre-clinicalPMID:21907929RDientsmann07/16MPNTRUEgermlineMTOR inhibitor + HSP90 inhibitorsMalignant peripheral nerve sheat tumor
NF1 oncogenic mutationNF1MUTNF1:.[MTOR inhibitor][]ResponsivePre-clinicalPMID:19573811;PMID:18483311;PMID:20505189;PMID:24509877RDientsmann07/16G;MPN;LKTRUEMTOR inhibitorsGlioma;Malignant peripheral nerve sheat tumor;Leukemia
NF1 deletionNF1CNANF1:del[MTOR inhibitor][]ResponsivePre-clinicalPMID:19573811;PMID:18483311;PMID:20505189;PMID:24509877RDientsmann07/16G;MPN;LKTRUEMTOR inhibitorsGlioma;Malignant peripheral nerve sheat tumor;Leukemia
NF1 oncogenic mutationNF1MUTNF1:.[Pan-RAF inhibitor;MEK inhibitor][]ResponsivePre-clinicalPMID:26351322RDientsmann07/16CMTRUEPan-RAF inhibitor + MEK inhibitorsCutaneous melanoma
NF1 deletionNF1CNANF1:del[Pan-RAF inhibitor;MEK inhibitor][]ResponsivePre-clinicalPMID:26351322RDientsmann07/16CMTRUEPan-RAF inhibitor + MEK inhibitorsCutaneous melanoma
NF1 oncogenic mutationNF1MUTNF1:.[PD1 Ab inhibitor][]ResponsiveEarly trialsASCO 2016 (abstr 105)RDientsmann07/16CMTRUEPD1 Ab inhibitorsCutaneous melanoma
NF1 deletionNF1CNANF1:del[PD1 Ab inhibitor][]ResponsiveEarly trialsASCO 2016 (abstr 105)RDientsmann07/16CMTRUE, PD1 expression higher in NF1 mutant melanoma (PMID 26960397)PD1 Ab inhibitorsCutaneous melanoma
PDGFRA wildtypePDGFRAMUTPDGFRA::wildtype:.BCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResistantLate trialsPMID:14645423;PMID:18955458RDientsmannGISTTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Gastrointestinal stromal
PDGFRA (D842V)PDGFRAMUTPDGFRA:D842VBCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResistantLate trials,Pre-clinicalPMID:22718859;PMID:16638875RDientsmann01/16GISTTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Gastrointestinal stromal
NF1 oncogenic mutationNF1MUTNF1:.VEGFR mAb inhibitorBevacizumabResponsiveCase reportPMID:24232489;PMID:2485933RDientsmann07/16GTRUEgermlineBevacizumab (VEGFR mAb inhibitor)Glioma
NF1 deletionNF1CNANF1:delVEGFR mAb inhibitorBevacizumabResponsiveCase reportPMID:24232489;PMID:2485933RDientsmann07/16GTRUEgermlineBevacizumab (VEGFR mAb inhibitor)Glioma
PDGFRA (T674I)PDGFRAMUTPDGFRA:T674IBCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResistantCase reportPMID:12660384RDientsmannHESTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Hyper eosinophilic advanced snydrome
ERBB2 (K753E)ERBB2MUTERBB2:K753EERBB2 inhibitorLapatinibResistantPre-clinicalPMID:27697991RDientsmann12/16BRCATRUELapatinib (ERBB2 inhibitor)Breast adenocarcinoma
MET amplification + ERBB2 amplificationMET;ERBB2CNA;CNAMET:amp;ERBB2:ampERBB2 inhibitorLapatinibResistantPre-clinicalPMID:22238368RDientsmann01/16STTRUELapatinib (ERBB2 inhibitor)Stomach
NTRK1 (G595R)NTRK1MUTNTRK1:G595RTRK Kinase InhibitorLarotrectinibResistantPre-clinicalPMID:28578312RDientsmann07/17CANCERTRUELarotrectinib (TRK Kinase Inhibitor)Any cancer type
NTRK3 (G623R)NTRK3MUTNTRK3:G623RTRK Kinase InhibitorLarotrectinibResistantPre-clinicalPMID:28578312RDientsmann07/17CANCERTRUELarotrectinib (TRK Kinase Inhibitor)Any cancer type
CRBN oncogenic mutationCRBNMUTCRBN:.ImmunomodulatorLenalidomideResistantCase reportPMID:25108355DTamboreroMYMATRUE. other mutation disrupting IMID - CRBN or CRBN - ubiqutin complex may confer IMiD resistanceLenalidomide (Immunomodulator)Myeloma
CRBN (Q100*,R283K)CRBNMUTCRBN:Q100*,R283KImmunomodulatorLenalidomideResistantCase reportPMID:23480694DTamboreroMYMATRUEREMAP: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 mutationNF1MUTNF1:.MTOR inhibitorEverolimusResponsiveCase reportPMID:26859683;ASCO 2016 (abstr e17557)RDientsmann07/16HNC;SGTRUEEverolimus (MTOR inhibitor)Head an neck;Salivary glands
NF1 oncogenic mutationNF1MUTNF1:.IndirectApprovedMTOR inhibitorEverolimusResponsiveLate trialsNCT01365468MMartínez09/15NFTRUEbenignEverolimus (MTOR inhibitor)Neurofibroma
NF1 (D1644A)NF1MUTNF1:D1644AMTOR inhibitorEverolimusResponsiveCase reportASCO 2015 (abstr 11010);PMID:26859683RDientsmann06/16HNCTRUEEverolimus (MTOR inhibitor)Head an neck
CRBN undexpressionCRBNEXPRCRBN:underImmunomodulatorLenalidomideResistantCase reportPMID:21860026DTamboreroMYMATRUEseveral manuscripts reporting that the IMiD resistant patients exhibit lower CRBN expressionLenalidomide (Immunomodulator)Myeloma
NF1 deletionNF1CNANF1:delMTOR inhibitorEverolimusResponsiveCase reportPMID:26859683;ASCO 2016 (abstr e17557)RDientsmann07/16HNC;SGTRUEEverolimus (MTOR inhibitor)Head an neck;Salivary glands
LRP1B oncogenic mutationLRP1BMUTLRP1B:.ChemotherapyLiposomal DoxorubicinResistantEarly trialsPMID:22896685RDientsmannOVTRUELiposomal Doxorubicin (Chemotherapy)Ovary
LRP1B deletionLRP1BCNALRP1B:delChemotherapyLiposomal DoxorubicinResistantEarly trialsPMID:22896685RDientsmannOVTRUELiposomal Doxorubicin (Chemotherapy)Ovary
STK11 oncogenic mutation + KRAS oncogenic mutationSTK11;KRASMUT;MUTSTK11:.;KRAS:.MEK inhibitor;ChemotherapyMEK inhibitor;DocetaxelResistantPre-clinicalPMID:22425996RDientsmann01/16LUADTRUEMEK inhibitor + Docetaxel (MEK inhibitor + Chemotherapy)Lung adenocarcinoma
STK11 deletion + KRAS oncogenic mutationSTK11;KRASCNA;MUTSTK11:del;KRAS:.MEK inhibitor;ChemotherapyMEK inhibitor;DocetaxelResistantPre-clinicalPMID:22425996RDientsmann01/16LUADTRUEMEK inhibitor + Docetaxel (MEK inhibitor + Chemotherapy)Lung adenocarcinoma
NF1 oncogenic mutationNF1MUTNF1:.MTOR inhibitor;VEGFR inhibitorEverolimus;PazopanibResponsiveCase reportPMID:24931142RDientsmann07/16HCTRUEEverolimus + Pazopanib (MTOR inhibitor + VEGFR inhibitor)Hepatic carcinoma
NF1 oncogenic mutationNF1MUTNF1:.BCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResponsiveEarly trialsPMID:23099009RDientsmann07/16PLENTRUEgermlineImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Plexiform neurofibroma
NF1 deletionNF1CNANF1:delBCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResponsiveEarly trialsPMID:23099009RDientsmann07/16PLENTRUEgermlineImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Plexiform neurofibroma
NF1 oncogenic mutationNF1MUTNF1:.BCR-ABL inhibitor 2nd genNilotinibResponsivePre-clinicalPMID:24173684RDientsmann07/16PLEN;MPNTRUEgermlineNilotinib (BCR-ABL inhibitor 2nd gen)Plexiform neurofibroma;Malignant peripheral nerve sheat tumor
NF1 deletionNF1CNANF1:delBCR-ABL inhibitor 2nd genNilotinibResponsivePre-clinicalPMID:24173684RDientsmann07/16PLEN;MPNTRUEgermlineNilotinib (BCR-ABL inhibitor 2nd gen)Plexiform neurofibroma;Malignant peripheral nerve sheat tumor
NF1 oncogenic mutationNF1MUTNF1:.Pan-TK inhibitorPLX3397ResponsivePre-clinicalPMID:23099891RDientsmann07/16PLENTRUEgermlinePLX3397 (Pan-TK inhibitor)Plexiform neurofibroma
NF1 deletionNF1CNANF1:delPan-TK inhibitorPLX3397ResponsivePre-clinicalPMID:23099891RDientsmann07/16PLENTRUEgermlinePLX3397 (Pan-TK inhibitor)Plexiform neurofibroma
NF1 oncogenic mutationNF1MUTNF1:.MEK inhibitorSelumetinibResponsiveEarly trialsASCO 2014 (abstr 10018)RDientsmann07/16PLENTRUEgermlineSelumetinib (MEK inhibitor)Plexiform neurofibroma
NF1 deletionNF1CNANF1:delMEK inhibitorSelumetinibResponsiveEarly trialsASCO 2014 (abstr 10018)RDientsmann07/16PLENTRUEgermlineSelumetinib (MEK inhibitor)Plexiform neurofibroma
NF1 oncogenic mutationNF1MUTNF1:.MTOR inhibitorSirolimusResponsiveEarly trialsPMID:25314964RDientsmann07/16PLENTRUEgermlineSirolimus (MTOR inhibitor)Plexiform neurofibroma
NF1 deletionNF1CNANF1:delMTOR inhibitorSirolimusResponsiveEarly trialsPMID:25314964RDientsmann07/16PLENTRUEgermlineSirolimus (MTOR inhibitor)Plexiform neurofibroma
NF1 oncogenic mutationNF1MUTNF1:.MTOR inhibitor;EGFR inhibitor 1st genSirolimus;ErlotinibResponsiveCase reportPMID:22434731RDientsmann07/16GTRUEgermline, rampamycin = sirolimusSirolimus + Erlotinib (MTOR inhibitor + EGFR inhibitor 1st gen)Glioma
NF1 deletionNF1CNANF1:delMTOR inhibitor;EGFR inhibitor 1st genSirolimus;ErlotinibResponsiveCase reportPMID:22434731RDientsmann07/16GTRUEgermline, rampamycin = sirolimusSirolimus + Erlotinib (MTOR inhibitor + EGFR inhibitor 1st gen)Glioma
NF1 oncogenic mutationNF1MUTNF1:.Pan-TK inhibitor;MTOR inhibitorSorafenib;SirolimusResponsivePre-clinicalPMID:25810463RDientsmann07/16MPNTRUEgermlineSorafenib + Sirolimus (Pan-TK inhibitor + MTOR inhibitor)Malignant peripheral nerve sheat tumor
NF1 deletionNF1CNANF1:delPan-TK inhibitor;MTOR inhibitorSorafenib;SirolimusResponsivePre-clinicalPMID:25810463RDientsmann07/16MPNTRUEgermlineSorafenib + Sirolimus (Pan-TK inhibitor + MTOR inhibitor)Malignant peripheral nerve sheat tumor
NF1 oncogenic mutationNF1MUTNF1:.Hormonal therapyTamoxifenResponsivePre-clinicalPMID:21075781RDientsmann07/16MPNTRUEgermlineTamoxifen (Hormonal therapy)Malignant peripheral nerve sheat tumor
NF1 deletionNF1CNANF1:delHormonal therapyTamoxifenResponsivePre-clinicalPMID:21075781RDientsmann07/16MPNTRUEgermlineTamoxifen (Hormonal therapy)Malignant peripheral nerve sheat tumor
ERBB2 (T798I)ERBB2MUTERBB2:T798IERBB2 inhibitorNeratinibResistantCase reportPMID:28274957RDientsmann07/17BRCATRUENeratinib (ERBB2 inhibitor)Breast adenocarcinoma
ABL1 (E255K,E255V,Y253H,F359V,F359C,F359I)ABL1MUTABL1:E255K,E255V,Y253H,F359V,F359C,F359IApprovedBCR-ABL inhibitor 2nd genNilotinibResistantNCCN guidelinesNCCN Guidelines Chronic Myeloid Leukemia 2022;NCCN Guidelines Acute Lymphoblastic Leukemia 2022;PMID:21562040CRubio-Perez;RShadrina;SDemajo12/15CML;ALLTRUENilotinib (BCR-ABL inhibitor 2nd gen)Chronic myeloid leukemia;Acute Lymphoblastic Leukemia
NF1 oncogenic mutationNF1MUTNF1:.MEK inhibitorTrametinibResponsiveCase reportPMID:26936308RDientsmann07/16GTRUEgermlineTrametinib (MEK inhibitor)Glioma
NF1 oncogenic mutationNF1MUTNF1:.MEK inhibitorTrametinibResponsivePre-clinicalPMID:24576830;PMID:2524381RDientsmann07/16CMTRUETrametinib (MEK inhibitor)Cutaneous melanoma
NF1 deletionNF1CNANF1:delMEK inhibitorTrametinibResponsiveCase reportPMID:26936308RDientsmann07/16GTRUEgermlineTrametinib (MEK inhibitor)Glioma
NF1 deletionNF1CNANF1:delMEK inhibitorTrametinibResponsivePre-clinicalPMID:24576830;PMID:2524381RDientsmann07/16CMTRUETrametinib (MEK inhibitor)Cutaneous melanoma
EGFR (C797S)EGFRMUTEGFR:C797SEGFR inhibitor 3rd genOsimertinibResistantEarly trialsPMID:25939061RDientsmann07/17LTRUEOsimertinib (EGFR inhibitor 3rd gen)Lung
EGFR (L718)EGFRMUTEGFR:L718.EGFR inhibitor 3rd genOsimertinibResistantEarly trialsASCO 2017 (abstr 2572)RDientsmann07/17LTRUEOsimertinib (EGFR inhibitor 3rd gen)Lung
NF1 oncogenic mutationNF1MUTNF1:.ChemotherapyVinblastineResponsiveEarly trialsASCO 2016 (abstr 2019)RDientsmann07/16GTRUEgermlineVinblastine (Chemotherapy)Glioma
NF1 deletionNF1CNANF1:delChemotherapyVinblastineResponsiveEarly trialsASCO 2016 (abstr 2019)RDientsmann07/16GTRUEgermlineVinblastine (Chemotherapy)Glioma
NF1 oncogenic mutationNF1MUTNF1:.Chemotherapy;BCR-ABL inhibitor 2nd genVinblastine;NilotinibResponsiveCase reportASCO 2016 (abstr 10555)RDientsmann07/16GTRUEgermlineVinblastine + Nilotinib (Chemotherapy + BCR-ABL inhibitor 2nd gen)Glioma
NF1 deletionNF1CNANF1:delChemotherapy;BCR-ABL inhibitor 2nd genVinblastine;NilotinibResponsiveCase reportASCO 2016 (abstr 10555)RDientsmann07/16GTRUEgermlineVinblastine + Nilotinib (Chemotherapy + BCR-ABL inhibitor 2nd gen)Glioma
EGFR (L792)EGFRMUTEGFR:L792.EGFR inhibitor 3rd genOsimertinibResistantEarly trialsASCO 2017 (abstr 2572)RDientsmann07/17LTRUEOsimertinib (EGFR inhibitor 3rd gen)Lung
ERBB2 amplificationERBB2CNAERBB2:ampApproved3rd generation EGFR inhibitorOsimertinibResistantCase reportPMID:27252416EArriola06/16LUADTRUEOsimertinib (3rd generation EGFR inhibitor)Lung adenocarcinoma
MET amplificationMETCNAMET:ampApproved[EGFR inhibitor 3rd gen]OsimertinibResistantCase reportPMID:27252416EArriola06/16LUADTRUEEGFR inhibitor 3rd gens (Osimertinib,etc)Lung adenocarcinoma
TUBB3 overexpressionTUBB3EXPRTUBB3:overTaxanePaclitaxelResistantPre-clinicalPMID:23184177ARodriguez-Vida09/15BLCABLCATRUEPaclitaxel (Taxane)Bladder
CCND1 amplificationCCND1CNACCND1:ampCDK4/6 inhibitorPalbociclibNo ResponsiveEarly trialsASCO 2017 (abstr 9056)RDientsmann07/17LTRUEPalbociclib (CDK4/6 inhibitor)Lung
CDK4 amplificationCDK4CNACDK4:ampCDK4/6 inhibitorPalbociclibNo ResponsiveEarly trialsASCO 2017 (abstr 9056)RDientsmann07/17LTRUEPalbociclib (CDK4/6 inhibitor)Lung
NF2 oncogenic mutationNF2MUTNF2:.[FAK inhibitor][]ResponsiveEarly trialsENA 2012 (abstr 610)RDientsmann07/16MESOTRUEFAK inhibitorsMesothelioma
NF2 oncogenic mutationNF2MUTNF2:.[FAK inhibitor][]ResponsivePre-clinicalPMID:24848258;PMID:24786638RDientsmann07/16MESO;OVTRUEFAK inhibitorsMesothelioma;Ovary
NF2 deletionNF2CNANF2:del[FAK inhibitor][]ResponsiveEarly trialsENA 2012 (abstr 610)RDientsmann07/16MESOTRUEFAK inhibitorsMesothelioma
NF2 deletionNF2CNANF2:del[FAK inhibitor][]ResponsivePre-clinicalPMID:24848258;PMID:24786638RDientsmann07/16MESO;OVTRUEFAK inhibitorsMesothelioma;Ovary
NF2 oncogenic mutationNF2MUTNF2:.[HSP90 inhibitor][]ResponsivePre-clinicalPMID:23714726RDientsmann07/16MENTRUEgermlineHSP90 inhibitorsMeningioma
NF2 deletionNF2CNANF2:del[HSP90 inhibitor][]ResponsivePre-clinicalPMID:23714726RDientsmann07/16MENTRUEgermlineHSP90 inhibitorsMeningioma
NF2 oncogenic mutationNF2MUTNF2:.[MEK inhibitor][]ResponsivePre-clinicalPMID:26359368RDientsmann07/16THTRUEMEK inhibitorsThyroid
NF2 deletionNF2CNANF2:del[MEK inhibitor][]ResponsivePre-clinicalPMID:26359368RDientsmann07/16THTRUEMEK inhibitorsThyroid
NF2 oncogenic mutationNF2MUTNF2:.[MTOR inhibitor][]ResponsivePre-clinicalPMID:19451225;PMID:2242646RDientsmann07/18MENTRUEMTOR inhibitorsMeningioma
NF2 deletionNF2CNANF2:del[MTOR inhibitor][]ResponsivePre-clinicalPMID:19451225;PMID:2242646RDientsmann07/17MENTRUEMTOR inhibitorsMeningioma
NF2 oncogenic mutationNF2MUTNF2:.[PAK inhibitor][]ResponsivePre-clinicalPMID:23960073;PMID:25596744RDientsmann07/16SCHW;MENTRUEgermlinePAK inhibitorsSchwannoma;Meningioma
NF2 deletionNF2CNANF2:del[PAK inhibitor][]ResponsivePre-clinicalPMID:23960073;PMID:25596744RDientsmann07/16SCHW;MENTRUEgermlinePAK inhibitorsSchwannoma;Meningioma
NF2 oncogenic mutationNF2MUTNF2:.[PDK1 inhibitor][]ResponsivePre-clinicalPMID:19359162RDientsmann07/16SCHWTRUEgermlinePDK1 inhibitorsSchwannoma
NF2 deletionNF2CNANF2:del[PDK1 inhibitor][]ResponsivePre-clinicalPMID:19359162RDientsmann07/16SCHWTRUEgermlinePDK1 inhibitorsSchwannoma
NF2 oncogenic mutationNF2MUTNF2:.HDAC inhibitorAR42ResponsivePre-clinicalPMID:21778190RDientsmann07/16SCHWTRUEgermlineAR42 (HDAC inhibitor)Schwannoma
NF2 oncogenic mutationNF2MUTNF2:.HDAC inhibitorAR42ResponsiveEarly trialsASCO 2016 (abstr 2558)RDientsmann07/16MENTRUEgermline,minor responseAR42 (HDAC inhibitor)Meningioma
NF2 deletionNF2CNANF2:delHDAC inhibitorAR42ResponsivePre-clinicalPMID:21778190RDientsmann07/16SCHWTRUEgermlineAR42 (HDAC inhibitor)Schwannoma
NF2 deletionNF2CNANF2:delHDAC inhibitorAR42ResponsiveEarly trialsASCO 2016 (abstr 2558)RDientsmann07/16MENTRUEgermline,minor responseAR42 (HDAC inhibitor)Meningioma
NF2 oncogenic mutationNF2MUTNF2:.VEGFR mAb inhibitorBevacizumabResponsiveEarly trialsPMID:19587327;PMID:22805104;PMID:26022982RDientsmann07/16SCHWTRUEgermlineBevacizumab (VEGFR mAb inhibitor)Schwannoma
NF2 deletionNF2CNANF2:delVEGFR mAb inhibitorBevacizumabResponsiveEarly trialsPMID:19587327;PMID:22805104;PMID:26022982RDientsmann07/16SCHWTRUEgermlineBevacizumab (VEGFR mAb inhibitor)Schwannoma
BRAF (V600E)BRAFMUTBRAF:V600EEGFR mAb inhibitorPanitumumabResistantLate trialsPMID:20619739;PMID:21163703;PMID:23325582RDientsmannCOREADTRUEPanitumumab (EGFR mAb inhibitor)Colorectal adenocarcinoma
EGFR (G465R)EGFRMUTEGFR:G465REGFR mAb inhibitorPanitumumabResistantCase reportPMID:26059438RDientsmann01/16COREADTRUEPanitumumab (EGFR mAb inhibitor)Colorectal adenocarcinoma
NF2 oncogenic mutationNF2MUTNF2:.MTOR inhibitorEverolimusResponsiveEarly trialsPMID:24311643;2556735RDientsmann07/16SCHWTRUEgermline, minor responsivEverolimus (MTOR inhibitor)Schwannoma
NF2 deletionNF2CNANF2:delMTOR inhibitorEverolimusResponsiveEarly trialsPMID:24311643;2556735RDientsmann07/16SCHWTRUEgermline, minor responsivEverolimus (MTOR inhibitor)Schwannoma
NF2 oncogenic mutationNF2MUTNF2:.MTOR inhibitor;Somatostatin analogEverolimus;OctreotideResponsivePre-clinicalPMID:26015296RDientsmann07/16MENTRUEEverolimus + Octreotide (MTOR inhibitor + Somatostatin analog)Meningioma
NF2 deletionNF2CNANF2:delMTOR inhibitor;Somatostatin analogEverolimus;OctreotideResponsivePre-clinicalPMID:26015296RDientsmann07/16MENTRUEEverolimus + Octreotide (MTOR inhibitor + Somatostatin analog)Meningioma
NF2 oncogenic mutationNF2MUTNF2:.BCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResponsivePre-clinicalPMID:19509233;PMID:2290085RDientsmann07/16SCHWTRUEgermlineImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Schwannoma
NF2 deletionNF2CNANF2:delBCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResponsivePre-clinicalPMID:19509233;PMID:2290085RDientsmann07/16SCHWTRUEgermlineImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Schwannoma
NF2 oncogenic mutationNF2MUTNF2:.ERBB2 inhibitorLapatinibResponsiveEarly trialsPMID:22844108;NCT00973739RDientsmann;MMartínez07/16SCHW;NFTRUEgermlineLapatinib (ERBB2 inhibitor)Schwannoma;Neurofibroma
NF2 deletionNF2CNANF2:delERBB2 inhibitorLapatinibResponsiveEarly trialsPMID:22844108;NCT00973739RDientsmann;MMartínez07/16SCHW;NFTRUEgermlineLapatinib (ERBB2 inhibitor)Schwannoma;Neurofibroma
NF2 oncogenic mutationNF2MUTNF2:.MTOR inhibitor;ChemotherapyTensirolimus;ChemotherapyResponsiveCase reportPMID:25878190RDientsmann07/16BRCATRUETensirolimus + Chemotherapy (MTOR inhibitor + Chemotherapy)Breast adenocarcinoma
NF2 deletionNF2CNANF2:delMTOR inhibitor;ChemotherapyTensirolimus;ChemotherapyResponsiveCase reportPMID:25878190RDientsmann07/16BRCATRUETensirolimus + Chemotherapy (MTOR inhibitor + Chemotherapy)Breast adenocarcinoma
KRAS oncogenic mutationKRASMUTKRAS:.Chemotherapy;MEK inhibitorGemcitabine;MEK inhibitorResponsiveEarly trialsPMID:23583440RDientsmann01/16PATRUEGemcitabine + MEK inhibitor (Chemotherapy + MEK inhibitor)Pancreas
KRAS oncogenic mutationKRASMUTKRAS:.Clinical TrialsMEK inhibitorSelumetinibResponsiveEarly trialsNCT00890825EArriola09/15NSCLCTRUESelumetinib (MEK inhibitor)Non-small cell lung
NOTCH1 activating mutation in Cterm-PEST domainNOTCH1MUTNOTCH1::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][]ResponsivePre-clinicalPMID:19318552RDientsmann01/16ALLTRUEGamma secretase inhibitor + CDK4 inhibitorsAcute lymphoblastic leukemia
NOTCH1 activating mutation in Cterm-PEST domainNOTCH1MUTNOTCH1::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][]ResponsivePre-clinicalPMID:19246562RDientsmann01/16ALLTRUEGamma secretase inhibitor + MTOR inhibitorsAcute lymphoblastic leukemia
NOTCH1 fusionNOTCH1FUSNOTCH1__.[Gamma secretase inhibitor][]ResponsivePre-clinicalPMID:16688224;PMID:23033986RDientsmann01/16ALLTRUEGamma secretase inhibitorsAcute lymphoblastic leukemia
NOTCH1 fusionNOTCH1FUSNOTCH1__.[Gamma secretase inhibitor][]ResponsivePre-clinicalPMID:22101766RDientsmannBRCATRUEGamma secretase inhibitorsBreast adenocarcinoma
NOTCH1 activating mutation in Cterm-PEST domainNOTCH1MUTNOTCH1::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][]ResponsiveEarly trialsASCO 2006 (abstr 6585)RDientsmann01/16ALLTRUEGamma secretase inhibitorsAcute lymphoblastic leukemia
NOTCH1 activating mutation in Cterm-PEST domainNOTCH1MUTNOTCH1::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][]ResponsivePre-clinicalPMID:15472075;PMID:19778842;PMID:22510873;PMID:23001755RDientsmann01/16ALLTRUEGamma secretase inhibitorsAcute lymphoblastic leukemia
NOTCH1 activating mutation in Cterm-PEST domainNOTCH1MUTNOTCH1::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][]ResponsivePre-clinicalPMID:25564152RDientsmannBRCATRUEGamma secretase inhibitorsBreast adenocarcinoma
NOTCH1 oncogenic mutationNOTCH1MUTNOTCH1:.[Gamma secretase inhibitor][]ResponsivePre-clinicalPMID:22210878RDientsmannMCLTRUEGamma secretase inhibitorsMantle 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)NOTCH1MUTNOTCH1::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][]ResponsiveCase reportPMID:27870570RDientsmann07/17ADCCTRUENOTCH1 inhibitorsAdenoid cystic carcinoma
NOTCH1 activating mutation in Cterm-PEST domainNOTCH1MUTNOTCH1::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:2245-2536IndirectClinical Trials[Gamma secretase inhibitor][Ro4929097,Pf-03084014,Mk-0752]ResponsiveEarly trialsNCT01703572;NCT01778439; NCT01098344; NCT01981551ECampoCANCERTRUEGamma secretase inhibitors (Ro4929097,Pf-03084014,Mk-0752,etc)Any cancer type
NOTCH1 activating mutation in Cterm-PEST domainNOTCH1MUTNOTCH1::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:2245-2536DirectClinical TrialsNOTCH1 inhibitorOMP-52M51ResponsiveEarly trialsNCT01703572;NCT01778439ECampoCANCERTRUEOMP-52M51 (NOTCH1 inhibitor)Any cancer type
NOTCH2 fusionNOTCH2FUSNOTCH2__.[Gamma secretase inhibitor][]ResponsivePre-clinicalPMID:22101766RDientsmannBRCATRUEGamma secretase inhibitorsBreast adenocarcinoma
NOTCH2 activating mutation (missense in TAD or truncating in Cterm-PEST domain)NOTCH2MUTNOTCH2::consequence::splice_donor_variant:2381-2420,::splice_acceptor_variant:2381-2420,::stop_gained:2381-2420,::stop_lost:2381-2420,::frameshift_variant:2381-2420DirectClinical TrialsGamma secretase inhibitorMk-0752ResponsiveEarly trialsPMID:25564152KKarube;RDientsmannBRCA;AML;ALLTRUEMk-0752 (Gamma secretase inhibitor)Breast adenocarcinoma;Acute myeloid leukemia;Acute lymphoblastic leukemia
NOTCH2 activating mutation (missense in TAD or truncating in Cterm-PEST domain)NOTCH2MUTNOTCH2::consequence::splice_donor_variant:2381-2420,::splice_acceptor_variant:2381-2420,::stop_gained:2381-2420,::stop_lost:2381-2420,::frameshift_variant:2381-2420DirectClinical TrialsNOTCH2 inhibitorOMP-59R5ResponsiveEarly trialsNCT01859741;NCT01277146ECampoSOLIDTRUEOMP-59R5 (NOTCH2 inhibitor)Solid tumors
NPM1 oncogenic mutationNPM1MUTNPM1:.[DOT1L inhibitors;MLL1 inhibitors][]ResponsivePre-clinicalPMID:27535106RDientsmann12/16AMLTRUEDOT1L inhibitors + MLL1 inhibitorsAcute myeloid leukemia
NPM1 oncogenic mutationNPM1MUTNPM1:.ApprovedChemotherapyDaunorubicinResponsiveFDA guidelinesPMID:22417203RDientsmannAMLTRUEDaunorubicin (Chemotherapy)Acute myeloid leukemia
EGFR (T790M)EGFRMUTEGFR:T790MERBB2 inhibitor&EGFR inhibitor 2nd genAfatinibResistantNCCN/CAP guidelinesNCCNRDientsmann01/16LTRUEAfatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen)Lung
PTEN biallelic inactivationPTENBIAPTEN:.EGFR mAb inhibitorPanitumumabResistantCase reportCaris molecular intelligenceDTamboreroCOREADTRUEPanitumumab (EGFR mAb inhibitor)Colorectal adenocarcinoma
NRAS oncogenic mutationNRASMUTNRAS:.IndirectApproved[CDK4/6 inhibitor;MEK inhibitor][]ResponsiveEarly trialsPMID:26658964;NCT01781572;NCT02065063;NCT02022982;ASCO 2014 (abstr 9009)DTamborero;CRubio-Perez;RDientsmannCMTRUECDK4/6 inhibitor + MEK inhibitorsCutaneous melanoma
NRAS (G12C)NRASMUTNRAS:G12C[ERK inhibitor][]ResponsivePre-clinicalPMID:23614898RDientsmannCANCERTRUEERK inhibitorsAny cancer type
NRAS oncogenic mutationNRASMUTNRAS:.[ERK inhibitor][]ResponsiveCase reportASCO 2017 (abstr 2508)RDientsmann07/17CMTRUEERK inhibitorsCutaneous melanoma
NRAS oncogenic mutationNRASMUTNRAS:.[HSP90 inhibitor][]ResponsivePre-clinicalPMID:23538902RDientsmann07/17CMTRUEHSP90 inhibitorsCutaneous melanoma
NRAS oncogenic mutationNRASMUTNRAS:.[MEK inhibitor +/- PI3K pathway inhibitor][]ResponsivePre-clinicalPMID:23274911;PMID:22392911RDientsmann01/16COREADTRUEMEK inhibitor +/- PI3K pathway inhibitorsColorectal adenocarcinoma
NRAS oncogenic mutationNRASMUTNRAS:.[MEK inhibitor][]ResponsivePre-clinicalPMID:22507781;PMID:23515407;PMID:18701506RDientsmannAML;LUAD;ALLTRUEMEK inhibitorsAcute myeloid leukemia;Lung adenocarcinoma;Acute lymphoblastic leukemia
NRAS (Q61)NRASMUTNRAS:Q61.[MEK inhibitor][]ResponsiveLate trialsPMID:23414587,ASCO 2016 (abstr 9500)RDientsmann06/16CMTRUEMEK inhibitorsCutaneous melanoma
NRAS oncogenic mutationNRASMUTNRAS:.[Pan-RAF inhibitor][]ResponsiveCase reportESMO 2015 (abstract 300);AACR 2017 (abstr CT002)RDientsmann07/17CMTRUEPan-RAF inhibitorsCutaneous melanoma
NRAS oncogenic mutationNRASMUTNRAS:.[PI3K pathway inhibitor;MEK inhibitor][]ResponsivePre-clinicalPMID:22985491RDientsmannMYMATRUEPI3K pathway inhibitor + MEK inhibitorsMyeloma
CRBN oncogenic mutationCRBNMUTCRBN:.ImmunomodulatorPomalidomideResistantCase reportPMID:25108355DTamboreroMYMATRUEIMiD-compound pocket in TBD of the CRBN is formed by three tryptophan residues, Trp380, Trp386 and Trp400Pomalidomide (Immunomodulator)Myeloma
CRBN (Q100*,R283K)CRBNMUTCRBN:Q100*,R283KImmunomodulatorPomalidomideResistantCase reportPMID:23480694DTamboreroMYMATRUEREMAP: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 mutationNRASMUTNRAS:.Pan-TK inhibitor;MEK inhibitorSorafenib;MEK inhibitorResponsiveEarly Trials,Case ReportPMID:25294897RDientsmann01/16HCTRUESorafenib + MEK inhibitor (Pan-TK inhibitor + MEK inhibitor)Hepatic carcinoma
CRBN undexpressionCRBNEXPRCRBN:underImmunomodulatorPomalidomideResistantCase reportPMID:21860026DTamboreroMYMATRUEseveral manuscripts reporting that the IMiD resistant patients exhibit lower CRBN expressionPomalidomide (Immunomodulator)Myeloma
NRG1 fusionNRG1FUSNRG1__.ERBB2&EGFR inhibitor 2nd genAfatinibResponsiveCase reportAACR 2016 (abstr 2631)RDientsmann06/16LUADTRUEAfatinib (ERBB2&EGFR inhibitor 2nd gen)Lung adenocarcinoma
NRG1 fusionNRG1FUSNRG1__.ERBB2 inhibitorLapatinibResponsivePre-clinicalPMID:24727320RDientsmannLUADTRUELapatinib (ERBB2 inhibitor)Lung adenocarcinoma
NTRK1 fusionNTRK1FUSNTRK1__.[Pan-TK inhibitor][]ResponsivePre-clinicalPMID:24162815RDientsmann01/16LUADTRUEPan-TK inhibitorsLung adenocarcinoma
NTRK1 fusionNTRK1FUSNTRK1__.[Pan-TKR inhibitor][]ResponsiveEarly trialsPMID:28183697;ASCO 2017 (LBA2501)RDientsmann07/17CANCERTRUEPan-TKR inhibitorsAny cancer type
NTRK1 fusionNTRK1FUSNTRK1__.[Pan-TK inhibitor][Entrectinib]ResponsiveCase reportPMID:26546295RDientsmann11/15COREADTRUEPan-TK inhibitors (Entrectinib,etc)Colorectal adenocarcinoma
NTRK1 fusionNTRK1FUSNTRK1__.ALK inhibitorCrizotinibResponsiveCase reportASCO 2013 (abstr 8023)RDientsmann01/16LUADTRUECrizotinib (ALK inhibitor)Lung adenocarcinoma
NTRK3 fusionNTRK3FUSNTRK3__.[IGF1R inhibitor][]ResponsivePre-clinicalPMID:21148487;PMID:23131561RDientsmannBRCATRUEIGF1R inhibitorsBreast adenocarcinoma
NTRK3 fusionNTRK3FUSNTRK3__.[PI3K pathway inhibitor][]ResponsivePre-clinicalPMID:21148487;PMID:23131561RDientsmannBRCATRUEPI3K pathway inhibitorsBreast adenocarcinoma
NTRK3 fusionNTRK3FUSNTRK3__.Pan-TK inhibitorMidostaurinResponsivePre-clinicalPMID:21148487;PMID:23131561RDientsmannBRCATRUEMidostaurin (Pan-TK inhibitor)Breast adenocarcinoma
PAK1 amplificationPAK1CNAPAK1:amp[PAK inhibitor][]ResponsivePre-clinicalPMID:23535073RDientsmannCMTRUEPAK inhibitorsCutaneous melanoma
PALB2 oncogenic mutationPALB2MUTPALB2:.[PARP inhibitor][]ResponsiveEarly trialsAACR 2015 (abstr CT322);PMID:26510020RDientsmann01/16PRADTRUEPARP inhibitorsProstate adenocarcinoma
PALB2 oncogenic mutationPALB2MUTPALB2:.[PARP inhibitor][]ResponsivePre-clinicalPMID:25263539;NCT01585805RDientsmann01/16PATRUEPARP inhibitorsPancreas
PALB2 deletionPALB2CNAPALB2:del[PARP inhibitor][]ResponsiveEarly trialsAACR 2015 (abstr CT322);PMID:26510020RDientsmann01/16PRADTRUEPARP inhibitorsProstate adenocarcinoma
PALB2 deletionPALB2CNAPALB2:del[PARP inhibitor][]ResponsivePre-clinicalPMID:25263539;NCT01585805RDientsmann01/16PATRUEPARP inhibitorsPancreas
PALB2 oncogenic mutationPALB2MUTPALB2:.ChemotherapyMytomycin CResponsiveCase reportPMID:21135251RDientsmann01/16PATRUEMytomycin C (Chemotherapy)Pancreas
PALB2 deletionPALB2CNAPALB2:delChemotherapyMytomycin CResponsiveCase reportPMID:21135251RDientsmann01/16PATRUEMytomycin C (Chemotherapy)Pancreas
PALB2 oncogenic mutationPALB2MUTPALB2:.ChemotherapyPlatinum AgentResponsiveCase reportPMID:25719666RDientsmann01/16PATRUEPlatinum Agent (Chemotherapy)Pancreas
PALB2 deletionPALB2CNAPALB2:delChemotherapyPlatinum AgentResponsiveCase reportPMID:25719666RDientsmann01/16PATRUEPlatinum Agent (Chemotherapy)Pancreas
PBRM1 oncogenic mutationPBRM1MUTPBRM1:.[EZH2 inhibitor][]ResponsivePre-clinicalPMID:26552009RDientsmann01/16CANCERTRUEEZH2 inhibitorsAny cancer type
PBRM1 deletionPBRM1CNAPBRM1:del[EZH2 inhibitor][]ResponsivePre-clinicalPMID:26552009RDientsmann01/16CANCERTRUEEZH2 inhibitorsAny cancer type
PBRM1 undexpressionPBRM1EXPRPBRM1:underApprovedMTOR inhibitorEverolimusResponsivePre-clinicalCell linePMID:25997916ARodriguez-Vida09/15RTRUEEverolimus (MTOR inhibitor)Renal
PDGFRA (D842V)PDGFRAMUTPDGFRA:D842V[HSP90 inhibitor][]ResponsivePre-clinicalPMID:18794084RDientsmann01/16GISTTRUEHSP90 inhibitorsGastrointestinal stromal
FLT3 (D835,Y842)FLT3MUTFLT3:D835.,Y842.BCR-ABL inhibitor 3rd gen&Pan-TK inhibitorPonatinibResistantPre-clinicalPMID:23430109RDientsmann01/16AMLTRUEPonatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)Acute myeloid leukemia
PDGFRA (D842V)PDGFRAMUTPDGFRA:D842VFLT3 inhibitorCrenolanibResponsiveEarly trialsASCO 2016 (abstr 11010)RDientsmann12/16GISTTRUECrenolanib (FLT3 inhibitor)Gastrointestinal stromal
PDGFRA (V658A,P577S,R841K,H845Y,G853D)PDGFRAMUTPDGFRA:V658A,P577S,R841K,H845Y,G853DFLT3 inhibitorCrenolanibResponsivePre-clinicalPMID:24132921RDientsmannCMTRUECrenolanib (FLT3 inhibitor)Cutaneous melanoma
PDGFRA wildtypePDGFRAMUTPDGFRA::wildtype:.BCR-ABL inhibitor 2nd genDasatinibResponsivePre-clinicalPMID:16397263RDientsmann01/16GISTTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Gastrointestinal stromal
PDGFRA (D842V)PDGFRAMUTPDGFRA:D842VBCR-ABL inhibitor 2nd genDasatinibResponsivePre-clinicalPMID:18794084RDientsmann01/16GISTTRUEDasatinib (BCR-ABL inhibitor 2nd gen)Gastrointestinal stromal
PDGFRA fusionPDGFRAFUSPDGFRA__.ApprovedBCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResponsiveFDA guidelinesEMACRubio-Perez;DTamborero;RDientsmannMDS;MDPSTRUEhttp://www.ema.europa.eu/docs/es_ES/document_library/EPAR_-_Product_Information/human/000406/WC500022207.pdfImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Myelodisplasic syndrome;Myelodisplasic proliferative syndrome
PDGFRA-FIP1L1 fusionPDGFRAFUSPDGFRA__FIP1L1ApprovedBCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResponsiveFDA guidelinesEMACRubio-Perez;DTamborero;RDientsmannHES;ECLTRUEhttp://www.ema.europa.eu/docs/es_ES/document_library/EPAR_-_Product_Information/human/000406/WC500022207.pdfImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Hyper eosinophilic advanced snydrome;Eosinophilic chronic leukemia
PDGFRA inframe deletion (I843)PDGFRAMUTPDGFRA::consequence::inframe_deletion:I843.ApprovedBCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResponsiveNCCN guidelinesNCCN guidelinesRDientsmannGISTTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Gastrointestinal stromal
RET (I788N)RETMUTRET:I788NBCR-ABL inhibitor 3rd gen&Pan-TK inhibitorPonatinibResistantPre-clinicalPMID:28615362RDientsmann07/17LUADTRUEPonatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)Lung adenocarcinoma
PDGFRA (552-596,631-668,814-854)PDGFRAMUTPDGFRA:552-596,631-668,814-854ApprovedBCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResponsiveNCCN guidelinesNCCN guidelinesRDientsmannGISTTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Gastrointestinal stromal
FLT3 (F691,D835,N676,Y842)FLT3MUTFLT3:F691.,D835.,N676.,Y842.Pan-TK inhibitorQuizartinibResistantPre-clinicalPMID:22504184;PMID:23878140RDientsmannAMLTRUEQuizartinib (Pan-TK inhibitor)Acute myeloid leukemia
PDGFRA (P577S,R841K,H845Y,G853D)PDGFRAMUTPDGFRA:P577S,R841K,H845Y,G853DBCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResponsivePre-clinicalPMID:24132921RDientsmannCMTRUEImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Cutaneous melanoma
EGFR (T790M)EGFRMUTEGFR:T790MEGFR inhibitor 1st genErlotinibResistantNCCN/CAP guidelinesNCCNRDientsmann01/16LTRUEErlotinib (EGFR inhibitor 1st gen)Lung
PDGFRA (552-596,631-668,814-854)PDGFRAMUTPDGFRA:552-596,631-668,814-854ApprovedPan-kinase inhibitorRegorafenibResponsiveNCCN guidelinesNCCN guidelinesRDientsmannGISTTRUEMutation exon 12,14,18Regorafenib (Pan-kinase inhibitor)Gastrointestinal stromal
PDGFRA wildtypePDGFRAMUTPDGFRA::wildtype:.Pan-TK inhibitorSorafenibResponsiveEarly trialsASCO 2011 (abstr 10009)RDientsmann01/16GISTTRUESorafenib (Pan-TK inhibitor)Gastrointestinal stromal
PDGFRA wildtypePDGFRAMUTPDGFRA::wildtype:.Pan-TK inhibitorSunitinibResponsiveLate trialsPMID:18955458RDientsmann01/16GISTTRUESunitinib (Pan-TK inhibitor)Gastrointestinal stromal
PDGFRA (552-596,631-668,814-854)PDGFRAMUTPDGFRA:552-596,631-668,814-854ApprovedPan-TK inhibitorSunitinibResponsiveNCCN guidelinesNCCN guidelinesRDientsmannGISTTRUEMutation exon 12,14,18Sunitinib (Pan-TK inhibitor)Gastrointestinal stromal
EGFR (L798I)EGFRMUTEGFR:L798IEGFR inhibitorRociletinibResistantCase reportPMID:27283993RDientsmann07/16LUADTRUERociletinib (EGFR inhibitor)Lung adenocarcinoma
PDGFRA overexpressionPDGFRAEXPRPDGFRA:overDirectApprovedPan-TK inhibitorSunitinibResponsivePre-clinicalCell linePMID:24086736ARodriguez-Vida09/15RTRUESunitinib (Pan-TK inhibitor)Renal
PDGFB-COL1A1 fusionPDGFBFUSPDGFB__COL1A1ApprovedBCR-ABL inhibitor 1st gen&KIT inhibitorImatinibResponsiveFDA guidelinesFDACRubio-Perez;DTamborero;RDientsmannDFSTRUEhttp://www.ema.europa.eu/docs/es_ES/document_library/EPAR_-_Product_Information/human/000406/WC500022207.pdfImatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)Dermatofibrosarcoma
PDPK1 amplificationPDPK1CNAPDPK1:amp[PI3K pathway inhibitor][]ResponsivePre-clinicalPMID:19602588RDientsmannBRCATRUEPI3K pathway inhibitorsBreast adenocarcinoma
PIK3CA oncogenic mutationPIK3CAMUTPIK3CA:.[AKT inhibitor][]ResponsiveEarly trialsASCO 2015 (abstr 2500)RDientsmann01/16BRCATRUEAKT inhibitorsBreast adenocarcinoma
ERBB2 amplificationERBB2CNAERBB2:amp3rd generation EGFR inhibitorRociletinibResistantCase reportPMID:27252416EArriola06/16LUADTRUERociletinib (3rd generation EGFR inhibitor)Lung adenocarcinoma
PIK3CA oncogenic mutationPIK3CAMUTPIK3CA:.[PI3K pathway inhibitor (alone or in combination)][]ResponsivePre-clinicalPMID:23136191;PMID:23475782;PMID:22392911RDientsmann01/16L;COREADTRUEPI3K pathway inhibitor (alone or in combination)sLung;Colorectal adenocarcinoma
PIK3CA oncogenic mutationPIK3CAMUTPIK3CA:.[PI3K pathway inhibitor][]ResponsiveCase reportASCO 2015 (abstr 2516);ASCO 2015 (abstr 6049);ESMO 2013 (abstr P017)RDientsmann01/16BLCA;HNC;LTRUEPI3K pathway inhibitorsBladder;Head an neck;Lung
PIK3CA oncogenic mutationPIK3CAMUTPIK3CA:.[PI3K pathway inhibitor][]ResponsiveEarly trialsPMID:22271473;PMID:27672108;AACR 2013 (abstr LB-66);PMID:25231405;ASCO 2013 (abstr 2531);ASCO 2014 (abstr 5513)RDientsmann01/16BRCA;OV;CESC;EDTRUEPI3K pathway inhibitorsBreast adenocarcinoma;Ovary;Cervix squamous cell;Endometrium
PIK3CA oncogenic mutationPIK3CAMUTPIK3CA:.[PI3K pathway inhibitor][]ResponsiveCase reportPMID:26787751;PMID:26763254RDientsmann07/16HNSCTRUEPI3K pathway inhibitorsHead an neck squamous
PIK3CA oncogenic mutationPIK3CAMUTPIK3CA:.[PI3K pathway inhibitor][]ResponsivePre-clinicalPMID:19671762;PMID:21289267RDientsmannG;THCATRUEPI3K pathway inhibitorsGlioma;Thyroid carcinoma
MET amplificationMETCNAMET:amp[EGFR inhibitor 3rd gen]RociletinibResistantCase reportPMID:27252416EArriola06/16LUADTRUEEGFR inhibitor 3rd gens (Rociletinib,etc)Lung adenocarcinoma
KRAS oncogenic mutationKRASMUTKRAS:.Pan-TK inhibitor;MEK inhibitorSorafenib;MEK inhibitorResponsiveEarly Trials,Case ReportPMID:25294897RDientsmann01/16HCTRUESorafenib + MEK inhibitor (Pan-TK inhibitor + MEK inhibitor)Hepatic carcinoma
PIK3CA oncogenic mutationPIK3CAMUTPIK3CA:.[PIK3CA inhibitor][]ResponsiveEarly trialsPMID:28331003RDientsmann07/17BRCATRUEPIK3CA inhibitorsBreast adenocarcinoma
PIK3CA oncogenic mutationPIK3CAMUTPIK3CA:.[PIK3CA inhibitor][]ResponsiveCase reportASCO 2015 (abstr 2501)RDientsmann01/16STTRUEPIK3CA inhibitorsStomach
NF1 oncogenic mutation + BRAF oncogenic mutationNF1;BRAFMUT;MUTNF1:.;BRAF:.MEK inhibitorSelumetinibResistantCase reportPMID:23444215RDientsmann07/16CMTRUESelumetinib (MEK inhibitor)Cutaneous melanoma
PIK3CA oncogenic mutation + ERBB2 amplificationPIK3CA;ERBB2MUT;CNAPIK3CA:.;ERBB2:ampMTOR inhibitor;ERBB2 mAb inhibitor;ChemotherapyEverolimus;Trastuzumab;ChemotherapyResponsiveLate trialsPMID:27091708RDientsmann01/16BRCATRUEEverolimus + Trastuzumab + Chemotherapy (MTOR inhibitor + ERBB2 mAb inhibitor + Chemotherapy)Breast adenocarcinoma
PIK3CB oncogenic mutationPIK3CBMUTPIK3CB:.[AKT inhibitor][]ResponsivePre-clinicalPMID:23619167RDientsmann04/16HNSCTRUEAKT inhibitorsHead an neck squamous
PIK3CB (D1067Y)PIK3CBMUTPIK3CB:D1067Y[AKT inhibitor][]ResponsivePre-clinicalPMID:26759240RDientsmann04/16BRCATRUEAKT inhibitorsBreast adenocarcinoma
PIK3CB oncogenic mutationPIK3CBMUTPIK3CB:.[MTORC1/2 inhibitor][]ResponsivePre-clinicalPMID:23619167RDientsmann04/16HNSCTRUEMTORC1/2 inhibitorsHead an neck squamous
PIK3CB (D1067Y)PIK3CBMUTPIK3CB:D1067Y[MTORC1/2 inhibitor][]ResponsivePre-clinicalPMID:26759240RDientsmann04/16BRCATRUEMTORC1/2 inhibitorsBreast adenocarcinoma
PIK3CB oncogenic mutationPIK3CBMUTPIK3CB:.[PI3K pathway inhibitor][]ResponsivePre-clinicalPMID:23619167RDientsmannHNSCTRUEPI3K pathway inhibitorsHead an neck squamous
NF1 deletion + BRAF oncogenic mutationNF1;BRAFCNA;MUTNF1:del;BRAF:.MEK inhibitorSelumetinibResistantCase reportPMID:23444215RDientsmann07/16CMTRUESelumetinib (MEK inhibitor)Cutaneous melanoma
PIK3R1 oncogenic mutationPIK3R1MUTPIK3R1:.[AKT inhibitor][]ResponsivePre-clinicalPMID:23166678RDientsmannGTRUEAKT inhibitorsGlioma
PIK3R1 oncogenic mutationPIK3R1MUTPIK3R1:.[PI3K pathway inhibitor][]ResponsiveCase reportASCO 2015 (abstr 11075)RDientsmann01/16EDTRUEPI3K pathway inhibitorsEndometrium
PIK3R2 (A171V,N561D)PIK3R2MUTPIK3R2:A171V,N561D[MTOR inhibitor][]ResponsivePre-clinicalPMID:21984976;PMID:19962665RDientsmannEDTRUEMTOR inhibitorsEndometrium
PML-RARA fusionPMLFUSPML__RARAApprovedRetinoidTretinoinResponsiveFDA guidelinesFDADTamborero;CRubio-Perez01/16APMLTRUETretinoin (Retinoid)Acute promyelocytic leukemia
PML-RARA fusionPMLFUSPML__RARAApprovedRetinoid;ChemotherapyTretinoin;Arsenic TrioxideResponsiveFDA guidelinesFDARDientsmannAMLTRUETretinoin + Arsenic Trioxide (Retinoid + Chemotherapy)Acute myeloid leukemia
PML-RARA fusionPMLFUSPML__RARAIndirectClinical TrialsPLK1 inhibitorVolasertibResponsiveEarly trialsNCT02198482;NCT01662505ECampoAMLTRUEVolasertib (PLK1 inhibitor)Acute myeloid leukemia
POLE (268-471)POLEMUTPOLE:268-471[PD1 Ab inhibitor][]ResponsiveCase reportPMID:27001570;PMID:27683556;PMID:27159395RDientsmann06/16G;EDTRUEMutations in exonuclease domain. Domain coordinates from (PMID:23528559)PD1 Ab inhibitorsGlioma;Endometrium
POLE oncogenic mutationPOLEMUTPOLE:.[PD1 Ab inhibitor][]ResponsiveCase reportPMID:28188185RDientsmann07/17COREADTRUEPD1 Ab inhibitorsColorectal adenocarcinoma
PRKCH amplification + ABL1-BCR fusionPRKCH;ABL1CNA;FUSPRKCH:amp;ABL1__BCRMEK inhibitor;BCR-ABL inhibitor 1st gen&KIT inhibitorTrametinib;ImatinibResponsivePre-clinicalPMID:25186176RDientsmannCMLTRUETrametinib + Imatinib (MEK inhibitor + BCR-ABL inhibitor 1st gen&KIT inhibitor)Chronic myeloid leukemia
PTCH1 oncogenic mutationPTCH1MUTPTCH1:.Approved[SMO inhibitor][]ResponsivePre-clinicalPMID:24651015DTamborero;RDientsmann10/16MBTRUESMO inhibitorsMedulloblastoma
PTCH1 oncogenic mutationPTCH1MUTPTCH1:.MET inhibitorForetinibResponsivePre-clinicalPMID:25391241RDientsmann01/16MBTRUEForetinib (MET inhibitor)Medulloblastoma
PTCH1 oncogenic mutationPTCH1MUTPTCH1:.ApprovedSHH inhibitorVismodegibResponsiveFDA guidelinesPMID:19726763;PMID:19726761RDientsmannBCC;MBTRUEVismodegib (SHH inhibitor)Basal cell carcinoma;Medulloblastoma
PTEN oncogenic mutationPTENMUTPTEN:.[AKT inhibitor][]ResponsiveCase reportPMID:22025163RDientsmann01/16PATRUEAKT inhibitorsPancreas
PTEN deletionPTENCNAPTEN:del[AKT inhibitor][]ResponsiveCase reportPMID:22025163RDientsmann01/16PATRUEAKT inhibitorsPancreas
PTEN oncogenic mutationPTENMUTPTEN:.[ATM inhibitor][]ResponsivePre-clinicalPMID:27397505RDientsmann07/16BRCATRUEATM inhibitorsBreast adenocarcinoma
PTEN oncogenic mutationPTENMUTPTEN:.[PARP inhibitor][]ResponsiveCase reportPMID:21468130;PMID:20944090RDientsmannEDTRUE(low estrogen)PARP inhibitorsEndometrium
PTEN deletionPTENCNAPTEN:del[PARP inhibitor][]ResponsiveCase reportPMID:21468130;PMID:20944090RDientsmannEDTRUE(low estrogen)PARP inhibitorsEndometrium
PTEN oncogenic mutationPTENMUTPTEN:.[PD1 Ab inhibitor][]ResponsiveEarly trialsPMID:26645196RDientsmann06/16CMTRUEPD1 Ab inhibitorsCutaneous melanoma
PTEN deletionPTENCNAPTEN:del[PD1 Ab inhibitor][]ResponsiveEarly trialsPMID:26645196RDientsmann06/16CMTRUEPD1 Ab inhibitorsCutaneous melanoma
PTEN oncogenic mutationPTENMUTPTEN:.[PI3K pathway inhibitor;AR antagonist][]ResponsivePre-clinicalPMID:21575859RDientsmann01/16PRADTRUEPI3K pathway inhibitor + AR antagonistsProstate adenocarcinoma
PTEN deletionPTENCNAPTEN:del[PI3K pathway inhibitor;AR antagonist][]ResponsivePre-clinicalPMID:21575859RDientsmann01/16PRADTRUEPI3K pathway inhibitor + AR antagonistsProstate adenocarcinoma
PTEN oncogenic mutationPTENMUTPTEN:.[PI3K pathway inhibitor;MEK inhibitor][]ResponsivePre-clinicalPMID:21632463RDientsmann01/16OVTRUEPI3K pathway inhibitor + MEK inhibitorsOvary
PTEN deletionPTENCNAPTEN:del[PI3K pathway inhibitor;MEK inhibitor][]ResponsivePre-clinicalPMID:21632463RDientsmann01/16OVTRUEPI3K pathway inhibitor + MEK inhibitorsOvary
PTEN oncogenic mutationPTENMUTPTEN:.[PI3K pathway inhibitor][]ResponsivePre-clinicalPMID:21289267;PMID:21325073;PMID:21191045;PMID:17804702;PMID:23136191;PMID:21632463;PMID:21673091;PMID:23287563;PMID:21998291;PMID:22662154;PMID:23085766;PMID:22932669RDientsmann01/16TH;G;L;OV;BRCA;CANCER;EDTRUEPI3K pathway inhibitorsThyroid;Glioma;Lung;Ovary;Breast adenocarcinoma;Any cancer type;Endometrium
PTEN deletionPTENCNAPTEN:del[PI3K pathway inhibitor][]ResponsivePre-clinicalPMID:21289267;PMID:21325073;PMID:21191045;PMID:17804702;PMID:23136191;PMID:21632463;PMID:21673091;PMID:23287563;PMID:21998291;PMID:22662154;PMID:23085766;PMID:22932669RDientsmann01/16TH;G;L;OV;BRCA;CANCER;EDTRUEPI3K pathway inhibitorsThyroid;Glioma;Lung;Ovary;Breast adenocarcinoma;Any cancer type;Endometrium
PTEN oncogenic mutationPTENMUTPTEN:.[PIK3CB inhibitor][]ResponsiveCase reportASCO 2014 (abstr 2514)RDientsmann01/16PRADTRUEPIK3CB inhibitorsProstate adenocarcinoma
PTEN deletionPTENCNAPTEN:del[PIK3CB inhibitor][]ResponsiveCase reportASCO 2014 (abstr 2514)RDientsmann01/16PRADTRUEPIK3CB inhibitorsProstate adenocarcinoma
KIT mutation in exon 11KITMUTKIT:550-592Pan-TK inhibitorSunitinibResistantLate trialsPMID:18955458RDientsmann01/16GISTTRUESunitinib (Pan-TK inhibitor)Gastrointestinal stromal
PTEN oncogenic mutationPTENMUTPTEN:.MTOR inhibitorEverolimusResponsiveEarly trialsPMID:23582881RDientsmann01/16PRADTRUEEverolimus (MTOR inhibitor)Prostate adenocarcinoma
PTEN deletionPTENCNAPTEN:delMTOR inhibitorEverolimusResponsiveEarly trialsPMID:23582881RDientsmann01/16PRADTRUEEverolimus (MTOR inhibitor)Prostate adenocarcinoma
KIT mutation in exon 17KITMUTKIT:788-828Pan-TK inhibitorSunitinibResistantPre-clinicalPMID:23840364RDientsmann01/16GISTTRUESunitinib (Pan-TK inhibitor)Gastrointestinal stromal
PTEN oncogenic mutationPTENMUTPTEN:.MTOR inhibitorSirolimusResponsiveEarly trialsASCO 2013 (abstr 2532)RDientsmann01/16CANCERTRUESirolimus (MTOR inhibitor)Any cancer type
PTEN deletionPTENCNAPTEN:delMTOR inhibitorSirolimusResponsiveEarly trialsASCO 2013 (abstr 2532)RDientsmann01/16CANCERTRUESirolimus (MTOR inhibitor)Any cancer type
KIT amplificationKITCNAKIT:ampPan-TK inhibitorSunitinibNo ResponsiveEarly trialsPMID:22261812RDientsmann01/16CMTRUESunitinib (Pan-TK inhibitor)Cutaneous melanoma
PDGFRA (D842V)PDGFRAMUTPDGFRA:D842VPan-TK inhibitorSunitinibResistantLate trials,Pre-clinicalPMID:22718859;PMID:16638875RDientsmann01/16GISTTRUESunitinib (Pan-TK inhibitor)Gastrointestinal stromal
ESR1 (E380Q,537,538,L536,P535H)ESR1MUTESR1:E380Q,.537.,.538.,L536.,P535HHormonal therapyTamoxifenResistantEarly trialsPMID:24185512;PMID:24185510;PMID:24398047RDientsmannBRCATRUETamoxifen (Hormonal therapy)Breast adenocarcinoma
NF1 oncogenic mutationNF1MUTNF1:.Farnesyltransferase inhibitorTipifarnibNo ResponsiveEarly trialsPMID:24500418RDientsmann07/16PLENTRUEgermlineTipifarnib (Farnesyltransferase inhibitor)Plexiform neurofibroma
PTEN oncogenic mutation + ERBB2 amplificationPTEN;ERBB2MUT;CNAPTEN:.;ERBB2:ampMTOR inhibitor;ERBB2 mAb inhibitor;ChemotherapyEverolimus;Trastuzumab;ChemotherapyResponsiveLate trialsPMID:27091708RDientsmann01/16BRCATRUEEverolimus + Trastuzumab + Chemotherapy (MTOR inhibitor + ERBB2 mAb inhibitor + Chemotherapy)Breast adenocarcinoma
PTPRD oncogenic mutationPTPRDMUTPTPRD:.[IGF1R inhibitor][]ResponsiveCase reportPMID:23800680RDientsmann12/16STRUEIGF1R inhibitorsSarcoma
NF1 deletionNF1CNANF1:delFarnesyltransferase inhibitorTipifarnibNo ResponsiveEarly trialsPMID:24500418RDientsmann07/16PLENTRUEgermlineTipifarnib (Farnesyltransferase inhibitor)Plexiform neurofibroma
NF1 oncogenic mutationNF1MUTNF1:.MEK inhibitorTrametinibNo ResponsiveCase reportPMID:26325560RDientsmann07/16OSTRUETrametinib (MEK inhibitor)Osteosarcoma
RAD50 (L1237F) + ATM deletionRAD50;ATMMUT;CNARAD50:L1237F;ATM:delTOPO1 inhibitor;CHK1/2 inhibitorIrinotecan;CHK1/2 inhibitorResponsiveCase reportPMID:24934408RDientsmann01/16CANCERTRUEIrinotecan + CHK1/2 inhibitor (TOPO1 inhibitor + CHK1/2 inhibitor)Any cancer type
RAD51C oncogenic mutationRAD51CMUTRAD51C:.[PARP inhibitor][]ResponsiveEarly trialsASCO 2015 (abstr 5508)RDientsmann01/16OVTRUEPARP inhibitorsOvary
RAD51C oncogenic mutationRAD51CMUTRAD51C:.[PARP inhibitor][]ResponsiveEarly trialsASCO 2015 (abstr 5508)RDientsmann04/16OVTRUEPARP inhibitorsOvary
RAF1 fusionRAF1FUSRAF1__.DirectPre-clinical[Pan-RAF inhibitor][]ResponsivePre-clinicalCell linePMID:20526349ARodriguez-Vida09/15PRADTRUEPan-RAF inhibitorsProstate adenocarcinoma
RAF1 fusionRAF1FUSRAF1__.Pan-TK inhibitorSorafenibResponsivePre-clinicalPMID:20526349RDientsmannPRADTRUESorafenib (Pan-TK inhibitor)Prostate adenocarcinoma
RAF1 overexpressionRAF1EXPRRAF1:overPan-TK inhibitorSorafenibResponsivePre-clinicalCell linePMID:24375110CdeTorres10/16OSTRUESorafenib (Pan-TK inhibitor)Osteosarcoma
RAF1 fusionRAF1FUSRAF1__.IndirectApprovedMEK inhibitorU0126ResponsivePre-clinicalCell linePMID:20526349ARodriguez-Vida09/15PRADTRUEU0126 (MEK inhibitor)Prostate adenocarcinoma
NF1 deletionNF1CNANF1:delMEK inhibitorTrametinibNo ResponsiveCase reportPMID:26325560RDientsmann07/16OSTRUETrametinib (MEK inhibitor)Osteosarcoma
RB1 oncogenic mutationRB1MUTRB1:.[HDAC inhibitor][]ResponsivePre-clinicalPMID:18483379RDientsmann01/16RBTRUEHDAC inhibitorsRetinoblastoma
RB1 deletionRB1CNARB1:del[HDAC inhibitor][]ResponsivePre-clinicalPMID:18483379RDientsmann01/16RBTRUEHDAC inhibitorsRetinoblastoma
RB1 oncogenic mutationRB1MUTRB1:.[MDM2/MDMX inhibitor][]ResponsivePre-clinicalPMID:17080083;PMID:21515735RDientsmannRBTRUEMDM2/MDMX inhibitorsRetinoblastoma
RB1 deletionRB1CNARB1:del[MDM2/MDMX inhibitor][]ResponsivePre-clinicalPMID:17080083;PMID:21515735RDientsmannRBTRUEMDM2/MDMX inhibitorsRetinoblastoma
RB1 oncogenic mutationRB1MUTRB1:.IndirectApprovedChemotherapyCisplatinResponsiveEarly trialsPMID:26238431ARodriguez-Vida;RDientsmannBLCABLCATRUECisplatin (Chemotherapy)Bladder
RB1 deletionRB1CNARB1:delIndirectApprovedChemotherapyCisplatinResponsiveEarly trialsPMID:26238431ARodriguez-Vida;RDientsmannBLCABLCATRUECisplatin (Chemotherapy)Bladder
RB1 overexpressionRB1EXPRRB1:overIndirectPre-clinicalCDK4/6 inhibitorPalbociclibResponsivePre-clinicalXenograftPMID:23708653ARodriguez-Vida09/15PRADTRUEPalbociclib (CDK4/6 inhibitor)Prostate adenocarcinoma
RET fusionRETFUSRET__.[RET inhibitor][]ResponsivePre-clinicalPMID:22327624;PMID:22327622RDientsmann01/16LUADTRUERET inhibitorsLung adenocarcinoma
RET-TPCN1 fusionRETFUSRET__TPCN1[RET inhibitor][]ResponsivePre-clinicalPMID:23056499RDientsmann01/16THTRUERET inhibitorsThyroid
RET (C634W,M918T)RETMUTRET:C634W,M918T[RET inhibitor][]ResponsivePre-clinicalPMID:23056499RDientsmann01/16THTRUERET inhibitorsThyroid
RET fusionRETFUSRET__.Pan-kinase inhibitorCabozantinibResponsiveEarly trialsPMID:28447912RDientsmann07/17LUADTRUECabozantinib (Pan-kinase inhibitor)Lung adenocarcinoma
RET-TPCN1 fusionRETFUSRET__TPCN1Pan-kinase inhibitorCabozantinibResponsivePre-clinicalPMID:21470995RDientsmannTHCATRUECabozantinib (Pan-kinase inhibitor)Thyroid carcinoma
RET (C634W,M918T)RETMUTRET:C634W,M918TPan-kinase inhibitorCabozantinibResponsivePre-clinicalPMID:21470995RDientsmann01/16THTRUECabozantinib (Pan-kinase inhibitor)Thyroid
RET fusionRETFUSRET__.Pan-TK inhibitorNintedanibResponsiveCase reportPMID:26787234RDientsmann06/16LUADTRUENintedanib (Pan-TK inhibitor)Lung adenocarcinoma
ARID1A oncogenic mutation + ANXA1 overexpressionARID1A;ANXA1MUT;EXPRARID1A:.;ANXA1:overFDA approvedERBB2 mAb inhibitorTrastuzumabResistantEarly trialsPMID:27172896RDientsmann12/16BRCATRUEAnaxa 1 highTrastuzumab (ERBB2 mAb inhibitor)Breast adenocarcinoma
RET fusionRETFUSRET__.Pan-TK inhibitorSunitinibResponsiveEarly trialsPMID:28447912RDientsmann07/17LUADTRUESunitinib (Pan-TK inhibitor)Lung adenocarcinoma
RET-TPCN1 fusionRETFUSRET__TPCN1Pan-TK inhibitorSunitinibResponsivePre-clinicalPMID:21470995RDientsmannTHCATRUESunitinib (Pan-TK inhibitor)Thyroid carcinoma
RET (C634W,M918T)RETMUTRET:C634W,M918TPan-TK inhibitorSunitinibResponsivePre-clinicalPMID:21470995RDientsmann01/16THTRUESunitinib (Pan-TK inhibitor)Thyroid
RET fusionRETFUSRET__.Pan-TK inhibitorVandetanibResponsiveEarly trialsPMID:28447912RDientsmann07/17LUADTRUEVandetanib (Pan-TK inhibitor)Lung adenocarcinoma
RET-TPCN1 fusionRETFUSRET__TPCN1Pan-TK inhibitorVandetanibResponsivePre-clinicalPMID:21470995RDientsmannTHCATRUEVandetanib (Pan-TK inhibitor)Thyroid carcinoma
RET (618,620,634,768,791,891,918,C634W,M918T)RETMUTRET:.618.,.620.,.634.,.768.,.791.,.891.,.918.,C634W,M918TApprovedPan-TK inhibitorVandetanibResponsiveFDA guidelinesPMID:20065189;PMID:22025146RDientsmannTHCATRUEVandetanib (Pan-TK inhibitor)Thyroid carcinoma
RICTOR amplificationRICTORCNARICTOR:amp[MTORC1/2 inhibitor][]ResponsiveCase reportPMID:26370156RDientsmann01/16LTRUEMTORC1/2 inhibitorsLung
RNF43 oncogenic mutationRNF43MUTRNF43:.[Porcupine inhibitor][]ResponsiveCase reportENA 2015 (abstr C45)RDientsmann11/15COREADTRUEPorcupine inhibitorsColorectal adenocarcinoma
ROS1 fusionROS1FUSROS1__.[HSP90 inhibitor][]ResponsivePre-clinicalPMID:23533265RDientsmann01/16LUADTRUEHSP90 inhibitorsLung adenocarcinoma
ROS1 fusionROS1FUSROS1__.Pan-kinase inhibitorCabozantinibResponsiveCase reportPMID:27370605RDientsmann07/17LUADTRUECabozantinib (Pan-kinase inhibitor)Lung adenocarcinoma
ROS1 (G2032R)ROS1MUTROS1:G2032RPan-kinase inhibitorCabozantinibResponsivePre-clinicalPMID:25351743RDientsmann01/16LUADTRUECabozantinib (Pan-kinase inhibitor)Lung adenocarcinoma
ARID1A amplification + ANXA1 overexpressionARID1A;ANXA1CNA;EXPRARID1A:amp;ANXA1:overFDA approvedERBB2 mAb inhibitorTrastuzumabResistantEarly trialsPMID:27172896RDientsmann12/16BRCATRUEAnaxa 1 highTrastuzumab (ERBB2 mAb inhibitor)Breast adenocarcinoma
ROS1 fusionROS1FUSROS1__.ALK inhibitorCrizotinibResponsiveCase reportPMID:24875859RDientsmann01/16IMTRUECrizotinib (ALK inhibitor)Inflammatory myofibroblastic
ROS1 fusionROS1FUSROS1__.ALK inhibitorCrizotinibResponsiveEarly trialsPMID:25264305RDientsmann01/16LUADTRUECrizotinib (ALK inhibitor)Lung adenocarcinoma
ROS1 fusionROS1FUSROS1__.Clinical trialsALK inhibitorCrizotinibResponsiveFDA guidelinesFDACRubio-Perez;EArriolaNSCLCTRUECrizotinib (ALK inhibitor)Non-small cell lung
ERBB2 amplificationERBB2CNAERBB2:ampERBB2 mAb inhibitorTrastuzumabNo ResponsiveEarly trialsPMID:26099744;PMID:19840887DTamborero;RDientsmannEDTRUETrastuzumab (ERBB2 mAb inhibitor)Endometrium
HGF amplification + ERBB2 amplificationHGF;ERBB2CNA;CNAHGF:amp;ERBB2:ampERBB2 mAb inhibitorTrastuzumabResistantEarly trialsPMID:22850551RDientsmann;CRubio-PerezBRCATRUETrastuzumab (ERBB2 mAb inhibitor)Breast adenocarcinoma
ROS1 (S1986Y,S1986F)ROS1MUTROS1:S1986Y,S1986FALK&ROS1 inhibitorLorlatinibResponsiveCase reportPMID:27401242RDientsmann07/17LUADTRUELorlatinib (ALK&ROS1 inhibitor)Lung adenocarcinoma
SERPINB3 oncogenic mutationSERPINB3MUTSERPINB3:.[CTLA4 inhibitor][]ResponsiveEarly trialsPMID:27668655RDientsmann12/16CMTRUECTLA4 inhibitorsCutaneous melanoma
SETD2 oncogenic mutationSETD2MUTSETD2:.[WEE1 inhibitor][]ResponsivePre-clinicalENA 2014 (abstr 211)RDientsmannCANCERTRUEWEE1 inhibitorsAny cancer type
SETD2 deletionSETD2CNASETD2:del[WEE1 inhibitor][]ResponsivePre-clinicalENA 2014 (abstr 211)RDientsmannCANCERTRUEWEE1 inhibitorsAny cancer type
SF3B1 (K700E,K666N)SF3B1MUTSF3B1:K700E,K666N[Spliceosome inhibitor][]ResponsivePre-clinicalENA 2014 (abstr 456);ENA 2014 (abstr 575);PMID:25424858RDientsmannCANCERTRUESpliceosome inhibitorsAny cancer type
SH2B3 oncogenic mutationSH2B3MUTSH2B3:.[JAK inhibitor][]ResponsivePre-clinicalPMID:20404132RDientsmannMDPSTRUEJAK inhibitorsMyelodisplasic proliferative syndrome
SH2B3 deletionSH2B3CNASH2B3:del[JAK inhibitor][]ResponsivePre-clinicalPMID:20404132RDientsmannMDPSTRUEJAK inhibitorsMyelodisplasic proliferative syndrome
MET amplification + ERBB2 amplificationMET;ERBB2CNA;CNAMET:amp;ERBB2:ampERBB2 mAb inhibitorTrastuzumabResistantEarly trialsPMID:22850551RDientsmann01/16BRCATRUETrastuzumab (ERBB2 mAb inhibitor)Breast adenocarcinoma
SLC44A4 overexpressionSLC44A4EXPRSLC44A4:over[SLC44A4 inhibitor][]ResponsivePre-clinicalPMID:27550944CRubio-Perez02/17PRAD;PAADTRUESLC44A4 inhibitorsProstate adenocarcinoma;Pancreas adenocarcinoma
SMARCA1 oncogenic mutationSMARCA1MUTSMARCA1:.[EZH2 inhibitor][]ResponsivePre-clinicalPMID:26552009RDientsmann01/16CANCERTRUEEZH2 inhibitorsAny cancer type
SMARCA4 oncogenic mutationSMARCA4MUTSMARCA4:.[EZH2 inhibitor][]ResponsiveCase reportESMO 2015 (abstract 302)RDientsmann11/15OVTRUEEZH2 inhibitorsOvary
SMARCA4 deletionSMARCA4CNASMARCA4:del[EZH2 inhibitor][]ResponsiveCase reportESMO 2015 (abstract 302)RDientsmann11/15OVTRUEEZH2 inhibitorsOvary
SMARCB1 oncogenic mutationSMARCB1MUTSMARCB1:.[EZH2 inhibitor][]ResponsiveCase reportENA 2014 (abstr 6LBA);ESMO 2015 (abstract 302)RDientsmann01/16MRTTRUEINI1 gene symbol: SMARCB1EZH2 inhibitorsMalignant rhabdoid tumor
SMARCB1 deletionSMARCB1CNASMARCB1:del[EZH2 inhibitor][]ResponsiveCase reportENA 2014 (abstr 6LBA);ESMO 2015 (abstract 302)RDientsmann01/16MRTTRUEINI1 gene symbol: SMARCB1EZH2 inhibitorsMalignant rhabdoid tumor
SMARCB1 deletionSMARCB1CNASMARCB1:delClinical Trials[EZH2 inhibitor][]ResponsiveEarly trialsESMO 2015 (abstract 302)RDientsmann11/15MRTTRUEEZH2 inhibitorsMalignant rhabdoid tumor
SMARCB1 oncogenic mutationSMARCB1MUTSMARCB1:.[HDAC inhibitor][]ResponsivePre-clinicalPMID:26920892RDientsmann07/16MRTTRUEHDAC inhibitorsMalignant rhabdoid tumor
MET amplification + ERBB2 amplificationMET;ERBB2CNA;CNAMET:amp;ERBB2:ampERBB2 mAb inhibitorTrastuzumabResistantEarly trialsPMID:22850551; PMID:26432108RDientsmann01/16BRCA;STTRUETrastuzumab (ERBB2 mAb inhibitor)Breast adenocarcinoma;Stomach
KRAS oncogenic mutationKRASMUTKRAS:.MEK inhibitor;BCR-ABL inhibitor 3rd gen&Pan-TK inhibitorTrametinib;PonatinibResponsivePre-clinicalPMID:27338794RDientsmann07/16LUADTRUETrametinib + Ponatinib (MEK inhibitor + BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)Lung adenocarcinoma
SMO (P641A)SMOMUTSMO:P641ASHH inhibitorVismodegibResponsiveCase reportASCO 2017 (abstr 9062)RDientsmann07/17LTRUEVismodegib (SHH inhibitor)Lung
SRSF2 oncogenic mutationSRSF2MUTSRSF2:.[Spliceosome inhibitor][]ResponsivePre-clinicalPMID:27135740RDientsmann06/16AMLTRUESpliceosome inhibitorsAcute myeloid leukemia
STAG2 oncogenic mutationSTAG2MUTSTAG2:.[PARP inhibitor][]ResponsivePre-clinicalPMID:24356817RDientsmannGTRUEPARP inhibitorsGlioma
BRAF inframe deletion (L485),inframe deletion (P490)BRAFMUTBRAF::consequence::inframe_deletion:L485.,::inframe_deletion:P490.ApprovedBRAF inhibitorVemurafenibResistantPre-clinicalPMID:26732095RDientsmann04/16CANCERTRUEVemurafenib (BRAF inhibitor)Any cancer type
STK11 oncogenic mutationSTK11MUTSTK11:.[MEK inhibitor][]ResponsivePre-clinicalPMID:19165201RDientsmannLUADTRUEMEK inhibitorsLung adenocarcinoma
STK11 deletionSTK11CNASTK11:del[MEK inhibitor][]ResponsivePre-clinicalPMID:19165201RDientsmannLUADTRUEMEK inhibitorsLung adenocarcinoma
STK11 oncogenic mutationSTK11MUTSTK11:.[MTOR inhibitor][]ResponsivePre-clinicalPMID:19541609RDientsmannCANCERTRUEMTOR inhibitorsAny cancer type
STK11 deletionSTK11CNASTK11:del[MTOR inhibitor][]ResponsivePre-clinicalPMID:19541609RDientsmannCANCERTRUEMTOR inhibitorsAny cancer type
STK11 oncogenic mutationSTK11MUTSTK11:.[SRC inhibitor;PI3K/MEK inhibitor][]ResponsivePre-clinicalPMID:20541700RDientsmann01/16LUADTRUESRC inhibitor + PI3K/MEK inhibitorsLung adenocarcinoma
STK11 deletionSTK11CNASTK11:del[SRC inhibitor;PI3K/MEK inhibitor][]ResponsivePre-clinicalPMID:20541700RDientsmann01/16LUADTRUESRC inhibitor + PI3K/MEK inhibitorsLung adenocarcinoma
STK11 (D194E)STK11MUTSTK11:D194EMTOR inhibitorEverolimusResponsiveCase reportPMID:21189378RDientsmann01/16PATRUEEverolimus (MTOR inhibitor)Pancreas
STK11 oncogenic mutationSTK11MUTSTK11:.Anti-diabeticPhenforminResponsivePre-clinicalPMID:23352126RDientsmann01/16LUADTRUEPhenformin (Anti-diabetic)Lung adenocarcinoma
STK11 deletionSTK11CNASTK11:delAnti-diabeticPhenforminResponsivePre-clinicalPMID:23352126RDientsmann01/16LUADTRUEPhenformin (Anti-diabetic)Lung adenocarcinoma
BRAF (V600)BRAFMUTBRAF:V600.ApprovedBRAF inhibitorVemurafenibNo ResponsiveEarly trialsPMID:26287849DTamboreroCOREADTRUEVemurafenib (BRAF inhibitor)Colorectal adenocarcinoma
MAP2K1 (E203K,Q56P,K57E)MAP2K1MUTMAP2K1:E203K,Q56P,K57EBRAF inhibitorVemurafenibResistantCase reportPMID:23569304RDientsmannCMTRUEVemurafenib (BRAF inhibitor)Cutaneous melanoma
NF1 biallelic inactivationNF1BIANF1:.BRAF inhibitorVemurafenibResistantPre-clinicalPMID:23171796DTamboreroCMTRUEVemurafenib (BRAF inhibitor)Cutaneous melanoma
SUZ12 oncogenic mutationSUZ12MUTSUZ12:.[BET inhibitor][]ResponsivePre-clinicalPMID:25119042RDientsmannCANCERTRUEBET inhibitorsAny cancer type
SUZ12 deletionSUZ12CNASUZ12:del[BET inhibitor][]ResponsivePre-clinicalPMID:25119042RDientsmannCANCERTRUEBET inhibitorsAny cancer type
SYK amplificationSYKCNASYK:amp[SYK inhibitor][]ResponsivePre-clinicalPMID:16409295;PMID:19549911RDientsmannMCL;CLLTRUESYK inhibitorsMantle cell lymphoma;Chronic lymphocytic leukemia
TERT promoters coreTERTMUTTERT::consequence::promoters_core:.Macrocyclic analogEribulinResponsivePre-clinicalPMID: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-bCRubio-Perez02/17GBMTRUEEribulin (Macrocyclic analog)Glioblastoma multiforme
TMPRSS2 fusionTMPRSS2FUSTMPRSS2__.[DNA-PKc inhibitor][]ResponsivePre-clinicalPMID:21575865RDientsmann01/16PRADTRUEDNA-PKc inhibitorsProstate adenocarcinoma
TMPRSS2 fusionTMPRSS2FUSTMPRSS2__.[PARP inhibitor][]ResponsivePre-clinicalPMID:21575865RDientsmannPRADTRUEPARP inhibitorsProstate adenocarcinoma
TOP2A amplificationTOP2ACNATOP2A:ampChemotherapyAnthracyclinesResponsiveLate trialsPMID:22864769RDientsmann01/16BRCATRUEAnthracyclines (Chemotherapy)Breast adenocarcinoma
TP53 wildtypeTP53MUTTP53::wildtype:.[HDM2 inhibitor][]ResponsiveEarly trialsAACR 2017 (abstr CT152)RDientsmann07/17AMLTRUEHDM2 inhibitorsAcute myeloid leukemia
TP53 (R248Q,R175H)TP53MUTTP53:R248Q,R175H[HSP90 inhibitor][]ResponsivePre-clinicalPMID:26009011RDientsmann04/16CANCERTRUEHSP90 inhibitorsAny cancer type
TP53 (R248Q,R175H)TP53MUTTP53:R248Q,R175H[HSP90 inhibitor][]ResponsivePre-clinicalPMID:26009011RDientsmannCANCERTRUEREMAP:R172H changed to R175H it was not the human mutationHSP90 inhibitorsAny cancer type
NF1 oncogenic mutation + BRAF oncogenic mutationNF1;BRAFMUT;MUTNF1:.;BRAF:.BRAF inhibitorVemurafenibResistantCase reportPMID:23288408;PMID:231718RDientsmann07/16CMTRUEVemurafenib (BRAF inhibitor)Cutaneous melanoma
TP53 oncogenic mutationTP53MUTTP53:.[WEE1 inhibitor][]ResponsivePre-clinicalPMID:25125259RDientsmannHNCTRUEWEE1 inhibitorsHead an neck
NF1 deletion + BRAF oncogenic mutationNF1;BRAFCNA;MUTNF1:del;BRAF:.BRAF inhibitorVemurafenibResistantCase reportPMID:23288408;PMID:231718RDientsmann07/16CMTRUEVemurafenib (BRAF inhibitor)Cutaneous melanoma
TP53 oncogenic mutationTP53MUTTP53:.IndirectClinical TrialsATR inhibitorAZD6738ResponsiveEarly trialsNCT01955668;https://ash.confex.com/ash/2014/webprogram/Paper71027.htmlECampoBCLTRUEAZD6738 (ATR inhibitor)B cell lymphoma
TP53 deletionTP53CNATP53:delIndirectClinical TrialsATR inhibitorAZD6738ResponsiveEarly trialsNCT01955668;https://ash.confex.com/ash/2014/webprogram/Paper71027.htmlECampoBCLTRUEAZD6738 (ATR inhibitor)B cell lymphoma
NRAS oncogenic mutationNRASMUTNRAS:.BRAF inhibitorVemurafenibResistantPre-clinicalPMID:20179705DTamboreroCMTRUEthere is also some report in real patients with resistance, but not clear associationVemurafenib (BRAF inhibitor)Cutaneous melanoma
TP53 oncogenic mutationTP53MUTTP53:.ChemotherapyDecitabineResponsiveEarly trialsPMID:27959731RDientsmann12/16AML;MDPSTRUEDecitabine (Chemotherapy)Acute myeloid leukemia;Myelodisplasic proliferative syndrome
TP53 oncogenic mutationTP53MUTTP53:.Anthracycline antitumor antibioticDoxorubicinResponsivePre-clinicalPMID:27397505RDientsmann07/16BLCATRUEDoxorubicin (Anthracycline antitumor antibiotic)Bladder
TP53 oncogenic mutationTP53MUTTP53:.ChemotherapyGemcitabineResponsivePre-clinicalPMID:27397505RDientsmann07/16BLCATRUEGemcitabine (Chemotherapy)Bladder
TP53 oncogenic mutationTP53MUTTP53:.ChemotherapyMitomycin CResponsivePre-clinicalPMID:27397505RDientsmann07/16BLCATRUEMitomycin C (Chemotherapy)Bladder
TP53 oncogenic mutationTP53MUTTP53:.IndirectClinical Trials[WEE1 inhibitor][]ResponsiveEarly trialsPMID:27998224KKarube;RDientsmann;DTamboreroOVTRUEWEE1 inhibitorsOvary
TP53 oncogenic mutationTP53MUTTP53:.Amylin analoguePramlintideResponsivePre-clinicalPMID:25409149RDientsmannTHYMTRUEPramlintide (Amylin analogue)Thymic
TP53 deletionTP53CNATP53:delAmylin analoguePramlintideResponsivePre-clinicalPMID:25409149RDientsmannTHYMTRUEPramlintide (Amylin analogue)Thymic
TPMT splice acceptor variantTPMTMUTTPMT::consequence::splice_acceptor_variant:.ApprovedChemotherapyCisplatinIncreased Toxicity (Ototoxicity)FDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUECisplatin (Chemotherapy)Any cancer type
TPMT biallelic inactivationTPMTBIATPMT:.ApprovedChemotherapyCisplatinIncreased Toxicity (Ototoxicity)FDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUECisplatin (Chemotherapy)Any cancer type
TPMT (A80P,Y240C,A154T,A167G)TPMTMUTTPMT:A80P,Y240C,A154T,A167GApprovedChemotherapyCisplatinIncreased Toxicity (Ototoxicity)FDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUECisplatin (Chemotherapy)Any cancer type
TPMT splice acceptor variantTPMTMUTTPMT::consequence::splice_acceptor_variant:.ApprovedPurine analogMercaptopurineIncreased Toxicity (Myelosupression)FDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUEMercaptopurine (Purine analog)Any cancer type
TPMT biallelic inactivationTPMTBIATPMT:.ApprovedPurine analogMercaptopurineIncreased Toxicity (Myelosupression)FDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUEMercaptopurine (Purine analog)Any cancer type
TPMT (A80P,Y240C,A154T,A167G)TPMTMUTTPMT:A80P,Y240C,A154T,A167GApprovedPurine analogMercaptopurineIncreased Toxicity (Myelosupression)FDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUEMercaptopurine (Purine analog)Any cancer type
TPMT splice acceptor variantTPMTMUTTPMT::consequence::splice_acceptor_variant:.ApprovedGuanine analogThioguanineIncreased Toxicity (Myelosupression)FDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUEThioguanine (Guanine analog)Any cancer type
TPMT biallelic inactivationTPMTBIATPMT:.ApprovedGuanine analogThioguanineIncreased Toxicity (Myelosupression)FDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUEThioguanine (Guanine analog)Any cancer type
TPMT (A80P,Y240C,A154T,A167G)TPMTMUTTPMT:A80P,Y240C,A154T,A167GApprovedGuanine analogThioguanineIncreased Toxicity (Myelosupression)FDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUEThioguanine (Guanine analog)Any cancer type
MET amplification + BRAF (V600E)MET;BRAFCNA;MUTMET:amp;BRAF:V600EBRAF inhibitor;EGFR mAb inhibitorVemurafenib;PanitumumabResistantCase reportPMID:27325282RDientsmann12/16COREADTRUEVemurafenib + Panitumumab (BRAF inhibitor + EGFR mAb inhibitor)Colorectal adenocarcinoma
NTRK3 (G623R)NTRK3MUTNTRK3:G623R[novel TRK inhibitor][]ResponsiveCase reportPMID:28578312RDientsmann07/17CANCERTRUEnovel TRK inhibitorsAny cancer type
FLT3-ITDFLT3MUTFLT3::consequence::inframe_variant:572-630BCL2 inhibitorVenetoclaxResistantEarly trialsPMID:27520294DTamborero;CRubio-Perez;SDemajo;RShadrina10/16AMLTRUEITD (codified as inframe) in Juxtamembrane domainVenetoclax (BCL2 inhibitor)Acute myeloid leukemia
TSC1 oncogenic mutationTSC1MUTTSC1:.[MTOR inhibitor][]ResponsiveEarly trialsPMID:23312829;PMID:21525172;PMID:20048174RDientsmann01/16RATRUEMTOR inhibitorsRenal angiomyolipoma
TSC1 oncogenic mutationTSC1MUTTSC1:.IndirectApprovedMTOR inhibitorEverolimusResponsiveEarly trialsPMID:22923433RDientsmann01/16BLCATRUETSC1 or TSC2 mutatedEverolimus (MTOR inhibitor)Bladder
TSC1 oncogenic mutationTSC1MUTTSC1:.MTOR inhibitorEverolimusResponsiveCase reportPMID:24622468;PMID:26859683;ASCO 2015 (abstr 11010);ASCO 2015 (abstr 4519)RDientsmann01/16RTRUEEverolimus (MTOR inhibitor)Renal
TSC1 oncogenic mutationTSC1MUTTSC1:.ApprovedMTOR inhibitorEverolimusResponsiveFDA guidelinesFDADTamborero04/16GCATRUETuberous sclerosis complex in 80% of cases = mutations in TSC1 or TSC2Everolimus (MTOR inhibitor)Giant cell astrocytoma
TSC1 oncogenic mutationTSC1MUTTSC1:.ApprovedMTOR inhibitorEverolimusResponsiveCase reportPMID:26859683RDientsmann06/16S;STTRUEEverolimus (MTOR inhibitor)Sarcoma;Stomach
TSC1 oncogenic mutationTSC1MUTTSC1:.ApprovedMTOR inhibitorEverolimusResponsiveFDA guidelinesFDAARodriguez-Vida09/15RARATRUETSC positive.Renal angilypoma is benign tumorEverolimus (MTOR inhibitor)Renal angiomyolipoma
TSC1 deletionTSC1CNATSC1:delMTOR inhibitorEverolimusResponsiveCase reportPMID:24622468;ASCO 2015 (abstr 11010);ASCO 2015 (abstr 4519)RDientsmann01/16RTRUEEverolimus (MTOR inhibitor)Renal
TSC2 oncogenic mutationTSC2MUTTSC2:.[MTOR inhibitor][]ResponsiveEarly trialsPMID:23312829;PMID:21525172;PMID:20048174RDientsmann01/16RATRUEMTOR inhibitorsRenal angiomyolipoma
TSC2 oncogenic mutationTSC2MUTTSC2:.[SRC inhibitor][]ResponsivePre-clinicalPMID:24691995RDientsmannLAMTRUESRC inhibitorsLymphangioleiomyomatosis
TSC2 deletionTSC2CNATSC2:del[SRC inhibitor][]ResponsivePre-clinicalPMID:24691995RDientsmannLAMTRUELymphangioleiomyomatosis (LAM) is a rare, progressive, systemic disease that typically results in cystic lung destructionSRC inhibitorsLymphangioleiomyomatosis
TSC2 oncogenic mutationTSC2MUTTSC2:.IndirectApprovedMTOR inhibitorEverolimusResponsiveEarly trialsPMID:22923433RDientsmann01/16BLCATRUETSC1 or TSC2 mutatedEverolimus (MTOR inhibitor)Bladder
TSC2 oncogenic mutationTSC2MUTTSC2:.ApprovedMTOR inhibitorEverolimusResponsiveFDA guidelinesFDAARodriguez-Vida;DTamborero04/16RA;GCARATRUETSC positive.Renal angilypoma is benign tumorEverolimus (MTOR inhibitor)Renal angiomyolipoma;Giant cell astrocytoma
TSC2 (Q1178*)TSC2MUTTSC2:Q1178*IndirectApprovedMTOR inhibitorEverolimusResponsiveCase reportPMID:25295501CRubio-Perez;RDientsmann01/16THCATRUEEverolimus (MTOR inhibitor)Thyroid carcinoma
TSC2 (E66K)TSC2MUTTSC2:E66KMTOR inhibitorTensirolimusResponsiveCase reportPMID:27016228RDientsmann07/16EDTRUETensirolimus (MTOR inhibitor)Endometrium
SMO (D473H)SMOMUTSMO:D473HSHH inhibitorVismodegibResistantCase reportPMID:19726788;PMID:25759019RDientsmannMBTRUEVismodegib (SHH inhibitor)Medulloblastoma
U2AF1 oncogenic mutationU2AF1MUTU2AF1:.[FLT3 inhibitor][]ResponsivePre-clinicalPMID:27397505RDientsmann07/16CANCERTRUEFLT3 inhibitorsAny cancer type
UGT1A1 biallelic inactivationUGT1A1BIAUGT1A1:.ApprovedTOPO1 inhibitorIrinotecanIncreased ToxicityFDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUEIrinotecan (TOPO1 inhibitor)Any cancer type
UGT1A1 (G71R,P229Q)UGT1A1MUTUGT1A1:G71R,P229QApprovedTOPO1 inhibitorIrinotecanIncreased ToxicityFDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUEIrinotecan (TOPO1 inhibitor)Any cancer type
UGT1A1 biallelic inactivationUGT1A1BIAUGT1A1:.ApprovedBCR-ABL inhibitor 2nd genNilotinibIncreased Toxicity (Hyperbilirubinemia)FDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUENilotinib (BCR-ABL inhibitor 2nd gen)Any cancer type
UGT1A1 (G71R,P229Q)UGT1A1MUTUGT1A1:G71R,P229QApprovedBCR-ABL inhibitor 2nd genNilotinibIncreased Toxicity (Hyperbilirubinemia)FDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUENilotinib (BCR-ABL inhibitor 2nd gen)Any cancer type
UGT1A1 biallelic inactivationUGT1A1BIAUGT1A1:.ApprovedVEGFR inhibitorPazopanibIncreased Toxicity (Hyperbilirubinemia)FDA guidelinesFDADTamborero;CRubio-Perez01/16CANCERTRUEPazopanib (VEGFR inhibitor)Any cancer type
VEGFA amplificationVEGFACNAVEGFA:ampPan-TK inhibitorSorafenibResponsiveEarly trialsPMID:24687604RDientsmann01/16HCTRUESorafenib (Pan-TK inhibitor)Hepatic carcinoma
VHL oncogenic mutationVHLMUTVHL:.IndirectApproved[VEGFR inhibitor][Sorafenib,Sunitinib,Bevacizumab,Axitinib]ResponsivePre-clinicalRetrospective analysisPMID:18635227ARodriguez-Vida09/15RTRUEVEGFR inhibitors (Sorafenib,Sunitinib,Bevacizumab,Axitinib,etc)Renal
SMO (D473H,D473G,W535L,L412F,W281C,Q477E,G497W)SMOMUTSMO:D473H,D473G,W535L,L412F,W281C,Q477E,G497WSHH inhibitorVismodegibResistantCase reportPMID:25759020;PMID:25306392DTamborero;RDientsmann04/16BCCTRUEVismodegib (SHH inhibitor)Basal cell carcinoma
ZNRF3 oncogenic mutationZNRF3MUTZNRF3:.[Porcupine inhibitor][]ResponsivePre-clinicalPMID:26023187RDientsmannCOREADTRUEPorcupine inhibitorsColorectal adenocarcinoma

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