synapse_tmp.csv

acute_lymphocytic_leukemia,ABL1,T315A,missense mutation,gain-of-function,response,"  nilotinib, ponatinib",NCCN guidelines,consensus,NCCN,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,ABL1,T315I,missense mutation,gain-of-function,response,  ponatinib,NCCN guidelines,consensus,NCCN,response,AURK inhibitors + BCR-ABL1 inhibitors,case report,emerging,22772060,response,axitinib,case report,emerging,25686603,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,ABL1,F317L/V/I/C,missense mutation,gain-of-function,response,"  nilotinib, ponatinib",NCCN guidelines,consensus,NCCN,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,ABL1,F359V/C/I,missense mutation,gain-of-function,response,"  dasatinib, ponatinib",NCCN guidelines,consensus,NCCN,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,ABL1,Y253H,missense mutation,gain-of-function,response,"  dasatinib, ponatinib",NCCN guidelines,consensus,NCCN,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,ABL1,E255K/V,missense mutation,gain-of-function,response,"  dasatinib, ponatinib",NCCN guidelines,consensus,NCCN,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,ABL1,V299L,missense mutation,gain-of-function,response,"  nilotinib, ponatinib",NCCN guidelines,consensus,NCCN,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
chronic_myeloid_leukemia,ABL1,T315A,missense mutation,gain-of-function,response,"  nilotinib, bosutinib, ponatinib",NCCN guidelines,consensus,21562040,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
chronic_myeloid_leukemia,ABL1,T315I,missense mutation,gain-of-function,response,  ponatinib,NCCN guidelines,consensus,21562040,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
chronic_myeloid_leukemia,ABL1,F317L/V/I/C,missense mutation,gain-of-function,response,"  nilotinib, bosutinib, ponatinib",NCCN guidelines,consensus,21562040,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
chronic_myeloid_leukemia,ABL1,F359V/C/I,missense mutation,gain-of-function,response,"  dasatinib, bosutinib, ponatinib",NCCN guidelines,consensus,21562040,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
chronic_myeloid_leukemia,ABL1,Y253H,missense mutation,gain-of-function,response,"  dasatinib, bosutinib, ponatinib",NCCN guidelines,consensus,21562040,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
chronic_myeloid_leukemia,ABL1,E255K/V,missense mutation,gain-of-function,response,"  dasatinib, bosutinib, ponatinib",NCCN guidelines,consensus,21562040,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
chronic_myeloid_leukemia,ABL1,V299L,missense mutation,gain-of-function,response,"  nilotinib, ponatinib",NCCN guidelines,consensus,21562040,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,AKT1,E17K,missense mutation,gain-of-function,sensitivity,allosteric AKT inhibitors,preclinical,emerging,"21464312, 17611497",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,AKT1,E17K,missense mutation,gain-of-function,response,"non-allosteric AKT inhibitors, allosteric AKT inhibitor",early trials,emerging,"ENA 2015 (abstract B109), 28489509",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,AKT1,E17K,missense mutation,gain-of-function,sensitivity, AKT inhibitors,preclinical,emerging,"21464312, 17611497, 23134728",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
fibrous_histiocytoma,AKT1,H238Y,missense mutation,gain-of-function,response,everolimus,case report,emerging,ASCO 2015 (abstr 11010),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,AKT1,Q79K,missense mutation,gain-of-function,resistance,BRAF inhibitors,preclinical,emerging,24265152,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
head_neck,AKT1,E17K,missense mutation,gain-of-function,response,PI3K pathway inhibitors,case report,emerging,26763254,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
endometrial,AKT1,E17K,missense mutation,gain-of-function,response,tensirolimus ,early trials,emerging,27016228,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,AKT2,amplification,copy number gain,gain-of-function,sensitivity,allosteric AKT inhibitors,preclinical,emerging,ENA 2014 (abstr 373),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,AKT3,rearrangement,fusion gene,gain-of-function,sensitivity,ATP-competitive AKT inhibitors,preclinical,emerging,22722202,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,ALK,rearrangement,fusion gene,gain-of-function,response ,"entrictinib, ceritinib",case report,emerging,"26633560, 26933125",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
inflammatory_myofibroblastic_tumor,ALK,rearrangement,fusion gene,gain-of-function,response,crizotinib,case report,emerging,20979472,response ,ceritinib,case report,emerging,27742657,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
inflammatory_myofibroblastic_tumor,ALK,G1128A,missense mutation,gain-of-function,resistance ,crizotinib,case report,emerging,http://ascopubs.org/doi/full/10.1200/PO.17.00015,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,ALK,rearrangement,fusion gene,gain-of-function,response ,"crizotinib, ceritinib, alectinib",FDA-approved,consensus,FDA,response,novel ALK inhibitors,early trials,emerging,23639470,response ,HSP90 inhibitors,early trials,emerging,23553849,sensitivity,ALK inhibitors + IGF1R inhibitors,preclinical,emerging,25173427,sensitivity,ALK inhibitors + SRC inhibitors,preclinical,emerging,25394791,sensitivity,ALK inhibitors + MEK inhibitors ,preclinical,emerging,26301689,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,ALK,F856S,missense mutation,gain-of-function,sensitivity,crizotinib,preclinical,emerging,26032424,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,ALK,A348D,missense mutation,gain-of-function,sensitivity,crizotinib,preclinical,emerging,26032424,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,ALK,R1275Q ,missense mutation,gain-of-function,sensitivity,crizotinib,preclinical,emerging,22072639,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,ALK,F1174L,missense mutation,gain-of-function,reduced sensitivity,crizotinib,preclinical,emerging,22072639,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,ALK,G1128A,missense mutation,gain-of-function,sensitivity,crizotinib,preclinical,emerging,22072639,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,ALK,I1171N ,missense mutation,gain-of-function,sensitivity,crizotinib,preclinical,emerging,22072639,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,ALK,R1192P,missense mutation,gain-of-function,sensitivity,crizotinib,preclinical,emerging,22072639,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,ALK,F1245C,missense mutation,gain-of-function,sensitivity,crizotinib,preclinical,emerging,22072639,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,ALK,L1196M,missense mutation,gain-of-function, resistance ,crizotinib,case report,emerging,22277784,response,ceritinib,FDA-approved,consensus,"24670165, 24327273",response,brigatinib,case report,emerging,ASCO 2017 (abstr 9065), ,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,ALK,L1198F,missense mutation,gain-of-function,resistance,lorlatinib,case report,emerging,26698910,response,crizotinib,case report,emerging,26698910,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,ALK,L1152R,missense mutation,gain-of-function, resistance ,crizotinib,case report,emerging,22277784,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,ALK, C1156Y,missense mutation,gain-of-function, resistance ,crizotinib,case report,emerging,22277784,sensitivity,lorlatinib,preclinical,emerging,27401242,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,ALK,F1174L,missense mutation,gain-of-function, resistance ,crizotinib,case report,emerging,22277784,sensitivity,novel ALK inhibiors,preclinical,emerging,24327273,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,ALK,G1202R,missense mutation,gain-of-function, resistance ,crizotinib,case report,emerging,22277784,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,ALK, S1206Y,missense mutation,gain-of-function, resistance ,crizotinib,case report,emerging,22277784,response,ceritinib,FDA-approved,consensus,24670165,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,ALK,G1269A,missense mutation,gain-of-function, resistance ,crizotinib,case report,emerging,22277784,response,ceritinib,FDA-approved,consensus,24670165,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,ALK, 1151Tins,insertion mutation,gain-of-function, resistance ,crizotinib,case report,emerging,22277784,response,ceritinib,FDA-approved,consensus,24670165,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,ALK,I1171T,missense mutation,gain-of-function,resistance,"crizotinib, alectinib",case report,emerging,25228534,response,ceritinib,FDA-approved,consensus,25228534,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,ALK,amplification,copy number gain,gain-of-function, resistance ,crizotinib,case report,emerging,22277784,response,brigatinib,case report,emerging,ASCO 2017 (abstr 9065),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,ALK,E1408V,missense mutation,gain-of-function,response,brigatinib,case report,emerging,ASCO 2017 (abstr 9065),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lymphoma,ALK,rearrangement,fusion gene,gain-of-function,response,crizotinib,early trials,emerging,24491302,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
thyroid,ALK,rearrangement,fusion gene,gain-of-function,response,crizotinib,case report,emerging,24687827,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,APC,any,mutation,loss-of-function,sensitivity,tankyrase inhibitors,preclinical,emerging,"22440753, 23539443 ",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,AR,F877L/T878A coexisting,missense mutation,gain-of-function,sensitivity,enzalutamide,preclinical,emerging,27196756,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,AR ,F876L ,missense mutation,gain-of-function,resistance ,"enzalutamide, ARN-509",case report,emerging,23779130,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,AR ,T877A,missense mutation,gain-of-function,resistance ,flutamide,case report,emerging,2260966,sensitivity,"enzalutamide, ARN-509",preclinical,emerging,23779130,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,AR ,W741,missense mutation,gain-of-function,resistance ,bicalutamide,preclinical,emerging,12517791,sensitivity,"enzalutamide, ARN-509",preclinical,emerging,23779130,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,AR ,L702H,missense mutation,gain-of-function,resistance,abiraterone,early trials,emerging,26537258,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,AR ,T878A,missense mutation,gain-of-function,resistance,abiraterone,early trials,emerging,26537258,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,AR ,amplification,copy number gain,gain-of-function,resistance,abiraterone,early trials,emerging,26537258,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,AR ,amplification,copy number gain,gain-of-function,sensitivity,next-generation AR antagonists ,preclinical,emerging,"23589709, 21859989",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,AR-V7,splice variant mRNA,amplification,gain-of-function,resistance,"enzalutamide, abiraterone",early trials,emerging,25184630,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,ARAF,unknown,mutation,gain-of-function,resistance,BRAF inhibitor + MEK inhibitor/anti-EGFR mAb,case report,emerging,ENA 2014 (abstr 428),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,ARAF,S214C,missense mutation,gain-of-function,response,sorafenib,case report,emerging,24569458,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,AREG,amplification,copy number gain,gain-of-function,response,anti-EGFR mAbs,early trials,emerging,"19738126, 26341080",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast cancer,ARID1A,mut,mutation or copy number loss,loss-of-function,resistance,trastuzumab (ANXA1 high),early trials,emerging,27172896,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,ARID1A,mut,any,loss-of-function,sensitivity,PARP inhibitors,preclinical,emerging,26069190,sensitivity,EZH2 inhibitors in RAS wt,preclinical,emerging,26552009,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
ovarian,ARID1A,any,mutation,loss-of-function,sensitivity,EZH2 inhibitor,preclinical,emerging,25686104,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,ARID1A,any,mutation,loss-of-function,sensitivity,ATR inhibitors,preclinical,emerging,27958275,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
bladder,ATM,any,mutation,loss-of-function,response,cisplatin,early trials,emerging,26238431,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,ATM,any,mutation or copy number loss,loss-of-function,response,ATR inhibitors,case report,emerging,ENA 2015 (abstract A48),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastric,ATM,any,mutation or copy number loss,loss-of-function,response,PARP inhibitors,early trials,emerging,ENA 2014 (abstr 8LBA),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,ATM,any,mutation,loss-of-function,sensitivity,temozolomide,preclinical,emerging,23960094,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lymphoma,ATM,any,mutation or copy number loss,loss-of-function,sensitivity,DNA-PKc inhibitors,preclinical,emerging,23761041,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,ATM,any,mutation,loss-of-function,response,PARP inhibitors,early trials,emerging,26510020,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,ATR,any,mutation or copy number loss,loss-of-function,sensitivity,PARP inhibitors,preclinical,emerging,23548269,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,ATR,any,mutation,loss-of-function,sensitivity,temozolomide,preclinical,emerging,23960094,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,AURKA,amplification,copy number gain,gain-of-function,sensitivity,AURK inhibitors,preclinical,emerging,22302096,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,AURKA,amplification,copy number gain,gain-of-function,sensitivity,AURK inhibitors,preclinical,emerging,22389870,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,B2M,any,mutation,loss-of-function,resistance,PD1 blockade,case report,emerging,27433843,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,BAP1,any,mutation or copy number loss,loss-of-function,sensitivity,PARP inhibitors,preclinical,emerging,22683710,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,BAP1,any,mutation or copy number loss,loss-of-function,sensitivity,HDAC inhibitors,preclinical,emerging,22038994,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
mesothelioma,BAP1,any,mutation or copy number loss,loss-of-function,sensitivity,EZH2 inhibitor,preclinical,emerging,26437366,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
renal,BAP1,any,mutation or copy number loss ,loss-of-function,sensitivity,PARP inhibitors,preclinical,emerging,22683710,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lymphoma,BCL2,amplification,copy number gain,gain-of-function,sensitivity,BCL2 inhibitors,preclinical,emerging,22649144,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastric,BCOR,mut,mutation,loss-of-function,sensitivity,enzastaurin (PKCbeta inhibitor),preclinical,emerging,27397505,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphoblastic_leukemia,BCR-ABL1,rearrangement,fusion gene,gain-of-function,response,dasatinib + venetoclax,preclinical,emerging,27582059,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,BCR-ABL1,rearrangement,fusion gene,gain-of-function,response,"imatinib, dasatinib, ponatinib",FDA-approved,consensus,FDA,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,BCR-ABL1,rearrangement,fusion gene,gain-of-function,response,nilotinib,NCCN guidelines,consensus,NCCN,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,BCR-ABL1,rearrangement,fusion gene,gain-of-function,response,"imatinib, dasatinib, ponatinib",FDA-approved,consensus,FDA,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
chronic_myeloid_leukemia,BCR-ABL1,rearrangement,fusion gene,gain-of-function,response,"imatinib, dasatinib, nilotinib, bosutinib, ponatinib",FDA-approved,consensus,FDA,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,BCR-JAK2,rearrangement,fusion gene,gain-of-function,sensitivity,ruxolitinib,preclinical,emerging,22897847,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,BRAF,V600E,missense mutation,gain-of-function,resistance,EGFR TKIs ,case report,emerging,22773810,response,dabrafenib + trametinib,FDA-approved,consensus,27283860,response,dabrafenib ,early trials,emerging,27080216,response,vemurafenib,case report,emerging,22743296,response,ERK inhibitors,early trials,emerging,ASCO 2017 (abstr 2508),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,BRAF,V600,missense mutation,gain-of-function,resistance,"cetuximab, panitumumab",late trials,emerging,"20619739, 21163703, 23325582  ",no response,vemurafenib,early trials,emerging,26460303,response,dabrafenib + trametinib,early trials,emerging,26392102,response,BRAF inhibitors + MEK inhibitors + anti-EGFR mAbs,early trials,emerging," ASCO 2014 (abstr 3515), ASCO 2015 (abstr 103) ",response,BRAF inhibitors + anti-EGFR mAbs +/- PI3K pathway inhibitors,early trials,emerging,28363909,response,irinotecan + vemurafenib + cetuximab,early trials,emerging ,27729313,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastrointestinal_stromal_tumor,BRAF,V600E,missense mutation,gain-of-function,response,dabrafenib,case report,emerging,"23470635, 22608338",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,BRAF,V600E,missense mutation,gain-of-function,sensitivity,BRAF inhibitors,preclinical,emerging,"22038996, 22586120",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
hairy_cell_leukemia,BRAF,V600E,missense mutation,gain-of-function,response,vemurafenib,case report,emerging,22621641,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,BRAF,Y472C,missense mutation,reduced kinase activity,response,dasatinib,case report,emerging,22649091,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,BRAF,G466V,missense mutation,reduced kinase activity,sensitivity,dasatinib,preclinical,emerging,22649091,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,BRAF,rearrangement,fusion gene,gain-of-function,response,BRAF inhibitor + MEK inhibitor,case report,emerging,ASCO 2017 (abstr 9072),sensitivity,"sorafenib, MEK inhibitors",preclinical,emerging,24727320,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,BRAF,rearrangement,fusion gene,gain-of-function,sensitivity,MEK inhibitors,preclinical,emerging,24345920,sensitivity,sorafenib,preclinical,emerging,238900088,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
ovarian,BRAF,V600E,missense mutation,gain-of-function,response,BRAF inhibitors,case report,emerging,22608338,sensitivity,MEK inhibitors,preclinical,emerging,19018267,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
ovarian,BRAF,rearrangement,fusion gene,gain-of-function,response,MEK inhibitors,case report,emerging,26324360,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,BRAF,rearrangement,fusion gene,gain-of-function,sensitivity,"sorafenib, MEK inhibitors",preclinical,emerging,20526349,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,BRAF,"V600D,V600K,V600M,V600G,V600R",missense mutation,gain-of-function,response,vemurafenib,NCCN guidelines,consensus,NCCN,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
neuroendocrine,BRAF,V600E,missense mutation,gain-of-function,response,dabrafenib + trametinib,case report,emerging,27048246,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
head_neck,BRAF,G469A ,missense mutation,gain-of-function,response,ERK inhibitors,case report,emerging,ASCO 2017 (abstr 2508),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
biliary_tract,BRAF,L485W,missense mutation,gain-of-function,response,ERK inhibitors,case report,emerging,ASCO 2017 (abstr 2508),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
thyroid,BRAF ,V600E,missense mutation,gain-of-function,response,"vemurafenib, dabrafenib",early trials,emerging,"22608338, 20818844, 23489023, 27460442",response,MEK inhibitors,early trials,emerging,22241789,response,MEK-inhibitor enhanced radioiodine uptake,early trials,emerging,23406027,response,BRAF inhibitors + MEK inhibitors,early trials,emerging,ASCO 2013 (abstr 9029),response,pan-RAF inhibitors,early trials,emerging,AACR 2016 (abstr CT005),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,BRAF ,L485-P490,deletion mutation,gain-of-function,response,pan-RAF inhibitor,preclinical,emerging,26732095,resistance,vemurafenib,preclinical,emerging,26732095,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,BRAF ,G469A ,missense mutation,gain-of-function,resistance,EGFR TKIs,case report,emerging,22773810,sensitivity,EGFR TKIs + MEK inhibitors in EGFR mutant ,preclinical,emerging,22773810,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,BRAF ,V600K,missense mutation,gain-of-function,response,"trametinib, dabrafenib + trametinib, vemurafenib + cobimetinib",FDA-approved,consensus,FDA,response,vemurafenib,late trials,emerging,22356324,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,BRAF ,V600R,missense mutation,gain-of-function,response,BRAF inhibitors,early trials,emerging,23237741,response,MEK inhibitors,case report,emerging,23248257,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,BRAF ,K601R,missense mutation,gain-of-function,response,MEK inhibitors,case report,emerging,23248257,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,BRAF ,L597R,missense mutation,gain-of-function,response,"trametinib, MEK inhibitors",case report,emerging,"22805292, 22798288",response,BRAF inhibitors,case report,emerging,23715574,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,BRAF ,D594G,missense mutation,gain-of-function (low activity),sensitivity, sorafenib,preclinical,emerging,18794803,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,BRAF ,G469E ,missense mutation,gain-of-function (low activity),sensitivity,sorafenib,preclinical,emerging,18794803,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
myeloma,BRAF ,V600E,missense mutation,gain-of-function,response,vemurafenib,case report,emerging,23612012,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,BRAF ,V600E,missense mutation,gain-of-function,response,"vemurafenib, dabrafenib, trametinib, dabrafenib + trametinib, vemurafenib + cobimetinib",FDA-approved,consensus,FDA,response,pan-RAF inhibitors,early trials,emerging,"ESMO 2015 (abstract 300), AACR 2016 (abstr CT005), AACR 2017 (abstr  CT002)",sensitivity,BRAF inhibitors + PI3K pathway inhibitors ,preclinical,emerging,"22389471, 21156289 ",sensitivity,BRAF inhibitors + HSP90 inhibitors,preclinical,emerging,22351686,sensitivity,BRAF inhibitors + CDK2/4 inhibitors,preclinical,emerging,22997239,sensitivity,ERK inhibitors,preclinical,emerging ,"23614898, 22997239",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,BRCA1,any,mutation ,loss-of-function ,response,PARP inhibitors,early trials,emerging,"20609467, 25366685",response,platinum agents,early trials,emerging,25847936,response,veliparib + cisplatin,early trials,emerging,26801247,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,BRCA1,any,mutation,loss-of-function,response,WEE1 inhibitors,case report,emerging,25964244,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
ovarian,BRCA1,any,mutation ,loss-of-function,response,"olaparib, rucaparib",FDA-approved,consensus,FDA,response,platinum agents,late trials,emerging,"22406760, 22711857 ",response,PARP inhibitors + chemotherapy,early trials,emerging,"22307137, ASCO 2012 (abstr 1009)",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
ovarian,BRCA1,deletion,copy number loss,loss-of-function,sensitivity,PARP inhibitors,preclinical,emerging,22392482,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
pancreatic,BRCA1,any,mutation,loss-of-function,response,PARP inhibitors ,case report,emerging ,"25366685, 25719666", ,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,BRCA1,any,mutation,loss-of-function,response,PARP inhibitors ,early trials,emerging ,"19553641, 25366685, 26510020",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,BRCA2,any,mutation ,loss-of-function ,response,PARP inhibitors,early trials,emerging,20609467,response,platinum agents,early trials,emerging,25847936,response,veliparib + cisplatin,early trials,emerging,26801247,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,BRCA2,any,mutation,loss-of-function,response,PD1 blockade,case report,emerging,26997480,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
ovarian,BRCA2,any,mutation,loss-of-function,response,"olaparib, rucaparib",FDA-approved,consensus,FDA,response,platinum agents,late trials,emerging,"22406760, 22711857 ",response,PARP inhibitors + chemotherapy,early trials,emerging,"22307137, ASCO 2012 (abstr 1009)",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
ovarian,BRCA2,deletion,copy number loss,loss-of-function,sensitivity,PARP inhibitors,preclinical,emerging,22392482,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
pancreatic,BRCA2,any,mutation,loss-of-function,response,platinum,case report,emerging,25719666,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,BRCA2,any,mutation,loss-of-function,response,PARP inhibitors ,early trials,emerging ,26510020,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
NUT_midline_carcinoma,BRD4,BRD4-NUT fusion,rearrangement,gain-of-function,response,BET inhibitors,case report,emerging,ENA 2015 (abstract A49),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
mantle_cell_lymphoma,BTK,C481,missense mutation,gain-of-function,resistance,ibrutinib,case report,emerging,25082755,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
chronic_lymphocytic_leukemia,BTK,C481S,missense mutation,gain-of-function,resistance,ibrutinib,early trials,emerging,"24869598, 27199251",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
myeloproliferative_neoplasm,CBL,Y371H,missense mutation,gain-of-function,sensitivity,"JAK inhibitors, dasatinib",preclinical,emerging,23696637,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
myeloproliferative_neoplasm,CBL,C384R,missense mutation,gain-of-function,sensitivity,"JAK inhibitors, dasatinib",preclinical,emerging,23696637,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,CCND1,amplification,copy number gain,gain-of-function,sensitivity,CDK4/6 inhibitors,preclinical,emerging,22471707,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,CCND1,amplification,copy number gain,gain-of-function,response,CDK4/6 inhibitors,case report,emerging,ASCO 2014 (abstr 2528^),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,CCND1,amplification,copy number gain,gain-of-function,no response,palbociclib,early trials,emerging,ASCO 2017 (abstr 9056),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,CCND2,amplification,copy number gain,gain-of-function,sensitivity,CDK4/6 inhibitors,preclinical,emerging,22471707,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,CCND3,amplification,copy number gain,gain-of-function,sensitivity,CDK4/6 inhibitors,preclinical,emerging,22471707,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,CCNE1,amplification,copy number gain,gain-of-function,sensitivity,CDK2 inhibitors,preclinical,emerging,22471707,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,CD274,amplification,copy number gain,gain-of-function,sensitivity,PD1 blockade,preclinical,emerging,25079317,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
basal_cell_carcinoma,CD274,amplification,copy number gain,gain-of-function,response,PD1 blockade,case report,emerging,27942391,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,CDH1,mut,mutation,loss-of-function,sensitivity,bicalutamide,preclinical,emerging,27397505,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
ovarian,CDK12,any,mutation or copy number loss,loss-of-function,sensitivity,PARP inhibitors,preclinical,emerging,"    24240700, 24554720",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
liposarcomas,CDK4,amplification,copy number gain,gain-of-function,response,CDK4 inhibitors (tumors with RB expression),early trials,emerging,23569312,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,CDK4,amplification,copy number gain,gain-of-function,no response,palbociclib,early trials,emerging,ASCO 2017 (abstr 9056),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,CDK6,amplification,copy number gain,gain-of-function,sensitivity,CDK6 inhibitors,preclinical,emerging,22471707,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,CDKN1A,any,mutation or copy number loss,loss-of-function ,sensitivity,CDK2/4 inhibitors,preclinical,emerging,"22471707, 22997239",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,CDKN1B,any,mutation or copy number loss,loss-of-function ,sensitivity,CDK2/4 inhibitors,preclinical,emerging,22471707,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,CDKN2A,any,mutation or copy number loss,loss-of-function ,sensitivity,CDK4/6 inhibitors,preclinical,emerging,22471707,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,CDKN2A,any,mutation or copy number loss,loss-of-function,sensitivity,CDK4/6 inhibitors,preclinical,emerging,"22586120, 22711607",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,CDKN2A,any,mutation or copy number loss,loss-of-function ,response,CDK4/6 inhibitors,case report,emerging,ASCO 2013 (abstr 2500),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,CDKN2B,any,mutation or copy number loss,loss-of-function ,sensitivity,CDK4/6 inhibitors,preclinical,emerging,22471707,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,CDKN2B,any,mutation or copy number loss,loss-of-function,sensitivity,CDK4/6 inhibitors,preclinical,emerging,22711607,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,CDKN2C,any,mutation or copy number loss,loss-of-function ,sensitivity,CDK2 inhibitors,preclinical,emerging,"22471707, 22997239",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,CDKN2C,any,mutation or copy number loss,loss-of-function,sensitivity,CDK4/6 inhibitors,preclinical,emerging,22711607,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,CHEK2,any,mutation or copy number loss,loss-of-function,response,PARP inhibitors,early trials,emerging,"AACR 2015 (abstr CT322), 26510020",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
dermatofibrosarcoma,COL1A1-PDGFRB ,rearrangement,fusion gene,gain-of-function,response,imatinib,FDA-approved,consensus,FDA,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,CRLF2,rearrangement,fusion gene,gain-of-function,sensitivity,BET inhibitors,preclinical,emerging,22904298,sensitivity,mTOR inhibitors,preclinical,emerging,22955920,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
myeloproliferative_neoplasm,CSF1R,Y571D,missense mutation,gain-of-function,sensitivity,imatinib,preclinical,emerging,18971950,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
atypical_chronic_myeloid_leukemia,CSF3R,T615A,missense mutation,gain-of-function,sensitivity,ruxolitinib,preclinical,emerging,23656643,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
atypical_chronic_myeloid_leukemia,CSF3R,Q741X ,missense mutation,gain-of-function,sensitivity,dasatinib,preclinical,emerging,23656643,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
atypical_chronic_myeloid_leukemia,CSF3R,Y752X,missense mutation,gain-of-function,sensitivity,dasatinib,preclinical,emerging,23656643,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
atypical_chronic_myeloid_leukemia,CSF3R,W791X,missense mutation,gain-of-function,sensitivity,dasatinib,preclinical,emerging,23656643,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
atypical_chronic_myeloid_leukemia,CSF3R,D771fs,missense mutation,gain-of-function,sensitivity,dasatinib,preclinical,emerging,23656643,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
atypical_chronic_myeloid_leukemia,CSF3R,S783fs,missense mutation,gain-of-function,sensitivity,dasatinib,preclinical,emerging,23656643,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
atypical_chronic_myeloid_leukemia,CSF3R,T618I,missense mutation,gain-of-function,response,ruxolitinib,case report,emerging,23656643,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,CTNNB1,any,mutation,gain-of-function,resistance,Tankyrase inhibitors,preclinical,emerging,23539443,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
endometrial,CTNNB1,"H36Y, S37C, S37Y, D32V",missense mutation,gain-of-function,response,everolimus + letrozole,early trials,emerging,25624430,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_squamous,DDR2,S768R,missense mutation,gain-of-function,response,dasatinib + erlotinib,case report,emerging,22328973,sensitivity,dasatinib,preclinical,emerging,22328973,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_squamous,DDR2, I638F ,missense mutation,gain-of-function,sensitivity,dasatinib,preclinical,emerging,22328973,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_squamous,DDR2,L239R,missense mutation,gain-of-function,sensitivity,dasatinib,preclinical,emerging,22328973,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_squamous,DDR2,G253C,missense mutation,gain-of-function,sensitivity,dasatinib,preclinical,emerging,22328973,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_squamous,DDR2,G774V,missense mutation,gain-of-function,sensitivity,dasatinib,preclinical,emerging,22328973,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_squamous,DDR2,L63V,missense mutation,gain-of-function,sensitivity,dasatinib,preclinical,emerging,22328973,,,,,,,,,,,,,,,,,,,,,, ,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_squamous,DDR2,G505S,missense mutation,gain-of-function,sensitivity,dasatinib,preclinical,emerging,22328973,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,DNMT3A,any,mutation,loss-of-function,response, daunorubicin,FDA-approved,consensus,22417203,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,exon 20 p.762-823,insertion mutation,gain-of-function,decreased sensitivity,first-generation and irreversible EGFR TKIs ,late trials,emerging,"21764376, 26773740,  26051236",response,HSP90 inhibitors,early trials,emerging,ASCO 2014 (abstr 8015),sensitivity,osimertinib,preclinical,emerging,26515464,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,S720,missense mutation,gain-of-function,no response,erlotinib,case report,emerging,26773740,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,"K757R, E746G",missense mutation,gain-of-function,response,erlotinib,case report,emerging,26773740,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,V769_770insASV,insertion mutation,gain-of-function,response,erlotinib,case report,emerging,"26773740, 23328547",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,EGFR," S464L, G465R, I491M",missense mutation,gain-of-function,resistance,cetuximab,preclinical,emerging,25623215,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,EGFR,G465R,missense mutation,gain-of-function,resistance,"cetuximab, panitumumab",case report,emerging,"26059438, 26888827",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,EGFR,R451C,missense mutation,gain-of-function,resistance,cetuximab,case report,emerging,25623215,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,EGFR,K467T,missense mutation,gain-of-function,resistance,cetuximab,case report,emerging,"25623215, 26888827",sensitivity,panitumumab,preclinical,emerging,25623215,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,EGFR,S492R,missense mutation,gain-of-function,resistance,cetuximab,case report ,emerging,22270724,response,panitumumab,case report,emerging,22270724,response,novel anti-EGFR mAbs,early trials,emerging,25962717,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,EGFR,amplification,copy number gain,gain-of-function,response,anti-EGFR mAbs,late trials,emerging,"18794099, 17664472",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
endometrial,EGFR,E690K,missense mutation,gain-of-function,response,lapatinib,case report,emerging,22885469,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
esophageal,EGFR,amplification,copy number gain,gain-of-function,response,gefitinib,late trials,emerging,24950987,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,EGFR,A289V,missense mutation,gain-of-function,sensitivity,erlotinib,preclinical,emerging,17177598,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,EGFR,R108K,missense mutation,gain-of-function,sensitivity,erlotinib,preclinical,emerging,17177598,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,EGFR,G598V,missense mutation,gain-of-function,sensitivity,erlotinib,preclinical,emerging,17177598,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,EGFR,T263P,missense mutation,gain-of-function,sensitivity,erlotinib,preclinical,emerging,17177598,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,EGFR,amplification,copy number gain,gain-of-function,no response,EGFR TKIs,early trials,emerging ,"16282176, 16278407 ",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,EGFR,exon 2-7 p.30-336,deletion mutation,gain-of-function,no response,EGFR TKIs,early trials,emerging ,19204207,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
head_neck,EGFR,amplification,copy number gain,gain-of-function,no response,gefitinib,early trials,emerging,"21274259, 22261807",response,EGFR inhibitors,case report,emerging,26763254,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
head_neck,EGFR,V843I,missense mutation,gain-of-function,no response,gefitinib,case report,emerging,21274259,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
head_neck,EGFR,delL747-P753insS,indel,gain-of-function,no response,gefitinib,case report,emerging,21274259,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
head_neck,EGFR,P546S,missense mutation,gain-of-function,response,cetuximab,case report,emerging,23578570,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
head_neck,EGFR,P753S,missense mutation,gain-of-function,response,cetuximab + sirolimus,case report,emerging,24934779,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,L858R,missense mutation,gain-of-function,response ,"erlotinib, afatinib, gefitinib",FDA-approved,consensus,FDA,response ,irreversible EGFR TKIs ,late trials,emerging,22753918,response,afatinib + cetuximab,early trials,emerging,ESMO 2012 (abstr 1289),response ,HSP90 inhibitors,early trials,emerging,ESMO 2012 (abstr 4380),sensitivity,MEK inhibitors (alone or in combination),preclinical,emerging,23102728,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,L861Q,missense mutation,gain-of-function,response ,"erlotinib, afatinib",NCCN guidelines,consensus,NCCN,response ,irreversible EGFR TKIs ,late trials,emerging,22753918,response ,afatinib + cetuximab,early trials,emerging,ESMO 2012 (abstr 1289),response ,HSP90 inhibitors,early trials,emerging,ESMO 2012 (abstr 4380),sensitivity,MEK inhibitors (alone or in combination),preclinical,emerging,23102728,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,G719A,missense mutation,gain-of-function,response ,"erlotinib, afatinib",NCCN guidelines,consensus,NCCN,response ,irreversible EGFR TKIs ,late trials,emerging,22753918,response ,afatinib + cetuximab,early trials,emerging,ESMO 2012 (abstr 1289),response ,HSP90 inhibitors,early trials,emerging,ESMO 2012 (abstr 4380),sensitivity,MEK inhibitors (alone or in combination),preclinical,emerging,23102728,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,G719S,missense mutation,gain-of-function,response ,"erlotinib, afatinib",NCCN guidelines,consensus,NCCN,response ,irreversible EGFR TKIs ,late trials,emerging,22753918,response ,afatinib + cetuximab,early trials,emerging,ESMO 2012 (abstr 1289),response ,HSP90 inhibitors,early trials,emerging,ESMO 2012 (abstr 4380),sensitivity,MEK inhibitors (alone or in combination),preclinical,emerging,23102728,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,G719C,missense mutation,gain-of-function,response ,"erlotinib, afatinib",NCCN guidelines,consensus,NCCN,response ,irreversible EGFR TKIs ,late trials,emerging,22753918,response ,afatinib + cetuximab,early trials,emerging,ESMO 2012 (abstr 1289),response ,HSP90 inhibitors,early trials,emerging,ESMO 2012 (abstr 4380),sensitivity,MEK inhibitors (alone or in combination),preclinical,emerging,23102728,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,G719D,missense mutation,gain-of-function,response ,"erlotinib, afatinib",NCCN guidelines,consensus,NCCN,response ,irreversible EGFR TKIs ,late trials,emerging,22753918,response ,afatinib + cetuximab,early trials,emerging,ESMO 2012 (abstr 1289),response ,HSP90 inhibitors,early trials,emerging,ESMO 2012 (abstr 4380),sensitivity,MEK inhibitors (alone or in combination),preclinical,emerging,23102728,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,L747S,missense mutation,gain-of-function,response ,"erlotinib, afatinib",NCCN guidelines,consensus,NCCN,response ,irreversible EGFR TKIs ,late trials,emerging,22753918,response ,afatinib + cetuximab,early trials,emerging,ESMO 2012 (abstr 1289),response ,HSP90 inhibitors,early trials,emerging,ESMO 2012 (abstr 4380),sensitivity,MEK inhibitors (alone or in combination),preclinical,emerging,23102728,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,S768I,missense mutation,gain-of-function,response ,"erlotinib, afatinib",NCCN guidelines,consensus,NCCN,response ,irreversible EGFR TKIs ,late trials,emerging,22753918,response ,afatinib + cetuximab,early trials,emerging,ESMO 2012 (abstr 1289),response ,HSP90 inhibitors,early trials,emerging,ESMO 2012 (abstr 4380),sensitivity,MEK inhibitors (alone or in combination),preclinical,emerging,23102728,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,L861P,missense mutation,gain-of-function,response ,"erlotinib, afatinib",NCCN guidelines,consensus,NCCN,response ,irreversible EGFR TKIs ,late trials,emerging,22753918,response ,afatinib + cetuximab,early trials,emerging,ESMO 2012 (abstr 1289),response ,HSP90 inhibitors,early trials,emerging,ESMO 2012 (abstr 4380),sensitivity,MEK inhibitors (alone or in combination),preclinical,emerging,23102728,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,L861Q,missense mutation,gain-of-function,response ,"erlotinib, afatinib",NCCN guidelines,consensus,NCCN,response ,irreversible EGFR TKIs ,late trials,emerging,22753918,response ,afatinib + cetuximab,early trials,emerging,ESMO 2012 (abstr 1289),response ,HSP90 inhibitors,early trials,emerging,ESMO 2012 (abstr 4380),sensitivity,MEK inhibitors (alone or in combination),preclinical,emerging,23102728,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,L861R,missense mutation,gain-of-function,response ,"erlotinib, afatinib",NCCN guidelines,consensus,NCCN,response ,irreversible EGFR TKIs ,late trials,emerging,22753918,response ,afatinib + cetuximab,early trials,emerging,ESMO 2012 (abstr 1289),response ,HSP90 inhibitors,early trials,emerging,ESMO 2012 (abstr 4380),sensitivity,MEK inhibitors (alone or in combination),preclinical,emerging,23102728,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,C797S,missense mutation,gain-of-function,resistance,osimertinib,early trials,emerging,25939061,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,L792,missense mutation,gain-of-function,resistance,osimertinib,early trials,emerging,ASCO 2017 (abstr 2572),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,L718,missense mutation,gain-of-function,resistance,osimertinib,early trials,emerging,ASCO 2017 (abstr 2572),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,exon 19 p.729-761,insertion mutation,gain-of-function,response ,"erlotinib, afatinib",NCCN guidelines,consensus,22190593,response ,irreversible EGFR TKIs ,late trials,emerging,22753918,response ,afatinib + cetuximab,early trials,emerging,ESMO 2012 (abstr 1289),response ,HSP90 inhibitors,early trials,emerging,ESMO 2012 (abstr 4380),sensitivity,MEK inhibitors (alone or in combination),preclinical,emerging,23102728,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,exon 19 p.729-761,deletion mutation,gain-of-function,response ,"erlotinib, afatinib, gefitinib",FDA-approved,consensus,FDA,response ,afatinib,late trials,emerging,"22753918, 25589191",response ,afatinib + cetuximab,early trials,emerging,ESMO 2012 (abstr 1289),response ,HSP90 inhibitors,early trials,emerging,ESMO 2012 (abstr 4380),sensitivity,MEK inhibitors (alone or in combination),preclinical,emerging,23102728,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,amplification,copy number gain,gain-of-function,no response,erlotinib,early trials,emerging,ASCO 2015 (abstr e19028),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR,T790M,missense mutation,gain-of-function, resistance,"erlotinib, afatinib",NCCN guidelines,consensus,NCCN,response,osimertinib,FDA,consensus,FDA,response ,afatinib + cetuximab,early trials,emerging,25074459,response,afatinib + nimotuzumab,early trials,emerging,26667485,response ,HSP90 inhibitors,early trials,emerging,ESMO 2012 (abstr 4380),response ,irreversible EGFR T790M inhibitors,early trials,emerging," ASCO 2014 (abstr 8009), ENA 2014 (abstr 10LBA), ENA 2014 (abstr 9LBA), ASCO 2015 (abstr 8001)",sensitivity,MEK inhibitors (alone or in combination),preclinical,emerging,23102728,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,EGFR,L798I,missense mutation,gain-of-function,resistance,rociletinib,case report,emerging,27283993,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,EGFR-RAD51,rearrangement,fusion gene,gain-of-function,response,erlotinib,case report,emerging,27102076,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,EPHA2,amplification,copy number gain,gain-of-function,sensitivity,dasatinib,preclinical,emerging,"18047674, 19010823, 19861960",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_squamous,EPHA2,G391R,missense mutation,gain-of-function,sensitivity,"mTOR inhibitors, dasatinib",preclinical,emerging,20360610,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,EPHA3,amplification,copy number gain,gain-of-function,sensitivity,EPHA3 inhibitors,preclinical,emerging,25125683,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ERBB2,K753E,missense mutation,gain-of-function,sensitivity,neratinib,preclinical,emerging,27697991,resistance,lapatinib,preclinical,emerging,27697991,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
biliary_tract,ERBB2,amplification,copy number gain,gain-of-function,response,"trastuzumab, lapatinib, pertuzumab",early trials,emerging,26022204,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ERBB2,L755S,missense mutation,gain-of-function,sensitivity,neratinib,preclinical,emerging,23220880,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ERBB2,L869R,missense mutation,gain-of-function,response,neratinib,case report,emerging,28274957,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ERBB2,T798I,missense mutation,gain-of-function,resistance,neratinib,case report,emerging,28274957,sensitivity,afatinib,preclinical,emerging,28274957,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ERBB2,G309A,missense mutation,gain-of-function,sensitivity,"lapatinib, neratinib",preclinical,emerging,23220880,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ERBB2,755-759del,deletion mutation,gain-of-function,sensitivity,neratinib ,preclinical,emerging,23220880,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ERBB2, D769Y ,missense mutation,gain-of-function,sensitivity,"trastuzumab, lapatinib, neratinib",preclinical,emerging,23220880,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ERBB2, D769H ,missense mutation,gain-of-function,sensitivity,"trastuzumab, lapatinib, neratinib",preclinical,emerging,23220880,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ERBB2,R896C,missense mutation,gain-of-function,sensitivity,"trastuzumab, lapatinib, neratinib",preclinical,emerging,23220880,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ERBB2,V777L,missense mutation,gain-of-function,sensitivity,"lapatinib, neratinib",preclinical,emerging,23220880,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ERBB2,P780_Y781insGSP,insertion mutation,gain-of-function,sensitivity,neratinib,preclinical,emerging,23220880,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ERBB2,V842I,missense mutation,gain-of-function,sensitivity,"lapatinib, neratinib",preclinical,emerging,23220880,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ERBB2,amplification,copy number gain,gain-of-function,response,"trastuzumab, lapatinib, pertuzumab, ado-trastuzumab emtansine",FDA-approved,consensus,FDA,response,"neratinib, afatinib",late trials,emerging," 20142587, 22418700, 23632474 ",response,trastuzumab + HSP90 inhibitors,early trials,emerging,21558407,response,trastuzumab + everolimus + chemotherapy,early trials,emerging,"21107682, 20975068",sensitivity,HER2 inhibitors + CDK4/6 inhibitors,preclinical,emerging,26977878,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ERBB2,V659E,missense mutation,gain-of-function,response,lapatinib,case report ,emerging,23950206,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,ERBB2,G309E ,missense mutation,gain-of-function,sensitivity,"ERBB2 TKIs, trastuzumab",preclinical,emerging,22908275,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,ERBB2,S310F,missense mutation,gain-of-function,sensitivity,"ERBB2 TKIs, trastuzumab",preclinical,emerging,22908275,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,ERBB2,S310Y,missense mutation,gain-of-function,sensitivity,"ERBB2 TKIs, trastuzumab",preclinical,emerging,22908275,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,ERBB2,C311R  ,missense mutation,gain-of-function,sensitivity,"ERBB2 TKIs, trastuzumab",preclinical,emerging,22908275,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,ERBB2,E321G,missense mutation,gain-of-function,sensitivity,ERBB2 TKIs,preclinical,emerging,22908275,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,ERBB2,C334S,missense mutation,gain-of-function,sensitivity,ERBB2 TKIs,preclinical,emerging,22908275,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,ERBB2,"S310, L755, V777, P780_Y781insGSP, A775_G776insYVMA",mutation,gain-of-function,response,neratinib,early trials,emerging,AACR 2017 (abstr CT001),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,ERBB2,"A775_G776insYVMA, G776delinsVC, V659E, S310F",mutation,gain-of-function,response,ado-trastuzumab emtansine,early trials,emerging,ASCO 2017 (abstr 8510),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,ERBB2,amplification,copy number gain,gain-of-function,resistance,anti-EGFR mAbs,early trials,emerging,"22586653, 23348520",response,trastuzumab + lapatinib (in KRAS wt),early trials,emerging,27108243,response,trastuzumab emtansine,case report,emerging,http://ascopubs.org/doi/full/10.1200/PO.16.00055, , , , , ,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
endometrial,ERBB2,amplification,copy number gain,gain-of-function,no response, trastuzumab alone,early trials,emerging,19840887,sensitivity,trastuzumab + lapatinib,preclinical,emerging,25294905,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastric,ERBB2,amplification,copy number gain,gain-of-function,response,trastuzumab,FDA-approved,consensus,FDA,response,afatinib,case report,emerging,AACR 2014 (abstr CT228),response,pertuzumab,early trials,emerging,24960402,response ,lapatinib (plus chemotherapy),early trials,emerging,"25694417, NCT02015169",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
head_neck,ERBB2,amplification,copy number gain,gain-of-function,response,trastuzumab-based chemotherapy,case report,emerging,21380780,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,ERBB2,proximal exon 20 p.775-881,insertion mutation,gain-of-function,response ,"trastuzumab, lapatinib, afatinib, neratinib ",early trials,emerging,"26598547, ASCO 2017 (abstr 9071)",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,ERBB2,G776L,missense mutation,gain-of-function,response,trastuzumab-based therapy,case report ,emerging,16775247,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,ERBB2,V659E,missense mutation,gain-of-function,response,lapatinib,case report ,emerging,23950206,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
ovarian,ERBB2,amplification,copy number gain,gain-of-function,response,trastuzumab,early trials,emerging,"20003286, 12525520",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
bladder,ERBB2,amplification,copy number gain,gain-of-function,response,afatinib,case report,emerging,27044931,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
bladder,ERBB3,G284R,missense mutation,gain-of-function,response,afatinib   ,case report,emerging,ASCO 2015 (abstr e15516),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
bladder,ERBB3,R103G,missense mutation,gain-of-function,response,afatinib   ,case report,emerging,ASCO 2015 (abstr e15516),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,ERBB3,P262H,missense mutation,gain-of-function,sensitivity,"trastuzumab, pertuzumab, lapatinib, anti-HER3 mAbs, PI3K pathway inhibitors + MEK inhibitors",preclinical,emerging,23680147,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,ERBB3,G284R,missense mutation,gain-of-function,sensitivity,"trastuzumab, pertuzumab, lapatinib, anti-HER3 mAbs, PI3K pathway inhibitors + MEK inhibitors",preclinical,emerging,23680147,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,ERBB3,Q809R,missense mutation,gain-of-function,sensitivity,"trastuzumab, lapatinib, PI3K pathway inhibitors + MEK inhibitors",preclinical,emerging,23680147,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,ERBB3,amplification,copy number gain,gain-of-function,resistance,anti-EGFR mAbs,early trials,emerging,25520391,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
bladder,ERBB3,"G284R, V104M, R103G",missense mutation,gain-of-function,response,afatinib,case report,emerging,27044931,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ERBB4,H809G,missense mutation,gain-of-function,resistance,lapatinib,case report,emerging,26530965,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,ERBB4,rearrangement,fusion gene,gain-of-function,sensitivity,"lapatinib, afatinib",preclinical,emerging,24727320,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,ERBB4,E317K,missense mutation,gain-of-function,sensitivity,lapatinib,preclinical,emerging,19718025,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,ERBB4,E452K,missense mutation,gain-of-function,sensitivity,lapatinib,preclinical,emerging,19718025,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,ERBB4,E542K,missense mutation,gain-of-function,sensitivity,lapatinib,preclinical,emerging,19718025,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,ERBB4,R544W,missense mutation,gain-of-function,sensitivity,lapatinib,preclinical,emerging,19718025,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,ERBB4,R393W,missense mutation,gain-of-function,sensitivity,lapatinib,preclinical,emerging,19718025,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,ERBB4,E872K,missense mutation,gain-of-function,sensitivity,lapatinib,preclinical,emerging,19718025,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,ERCC1,any,mutation or copy number loss,loss-of-function,sensitivity,PARP inhibitors,preclinical,emerging,23934192,sensitivity,cisplatin,preclinical,emerging,"23275151, 23934192",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
bladder,ERCC2,any,mutation,loss-of-function,response,cisplatin,early trials,emerging,25096233,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
ovarian,ERCC4,any,mutation,loss-of-function,sensitivity,cisplatin,preclinical,emerging,25634215,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
ovarian,ERCC6,any ,mutation,loss-of-function,sensitivity,cisplatin,preclinical,emerging,25634215,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,EREG,amplification,copy number gain,gain-of-function,response,anti-EGFR mAbs,early trials,emerging,"19738126, 26341080",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ESR1,ERS1-YAP1 rearrangement,fusion gene,gain-of-function,resistance,anti-estrogens,preclinical,emerging,24055055,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ESR1,E380Q,missense mutation,gain-of-function,resistance,anti-estrogens,early trials,emerging,"24185512, 24185510, 24398047",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ESR1,"codons 537, 538",missense mutation,gain-of-function,resistance,anti-estrogens,early trials,emerging,"24185512, 24185510, 24398047",response,novel estrogen receptor degrader,early trials,emerging,AACR 2015 (abstr CT231),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ESR1,"codons 537, 538",missense mutation,gain-of-function,sensitivity,novel estrogen receptor degrader,preclinical,emerging,27020862,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ESR1,L536,missense mutation,gain-of-function,resistance,anti-estrogens,early trials,emerging,"24185512, 24185510",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ESR1,P535H,missense mutation,gain-of-function,resistance,anti-estrogens,early trials,emerging,24185512,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ESR1,any,missense mutation,gain-of-function,resistance,exemestane,late trials,emerging,27269946,response,fulvestrant,late trials,emerging,27269946,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,ESR1,Y537S,missense mutation,gain-of-function,reduced sensitivity,fulvestrant,preclinical,emerging,27986707,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lymphoma,EZH2,Y641F,missense mutation,gain-of-function,sensitivity,EZH2 inhibitor,preclinical,emerging,24563539,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lymphoma,EZH2,A677,missense mutation,gain-of-function,sensitivity,EZH2 inhibitor,preclinical,emerging,23023262,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,FANCA,any,mutation or copy number loss,loss-of-function,response,PARP inhibitors,early trials,emerging,26510020,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
bladder,FANCC,any,mutation,loss-of-function,response,cisplatin,early trials,emerging,26238431,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
head_neck,FAT1 ,mut,mutation,loss-of-function,sensitivity,BET inhibitors,preclinical,emerging,27397505,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,FBXW7,any,mutation,loss-of-function,response,steroids in early setting,late trials,emerging,20861909,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,FBXW7,any,mutation or copy number loss,loss-of-function,resistance,anti-tubulin agents,preclinical,emerging,21368834,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,FGF3,amplification,copy number gain,gain-of-function,response,dovitinib,early trials,emerging,23658459,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,FGF4,amplification,copy number gain,gain-of-function,response,dovitinib,early trials,emerging,23658459,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,FGFR1,amplification,copy number gain,gain-of-function,response,FGFR inhibitors,early trials,emerging,25193991,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_squamous,FGFR1,amplification,copy number gain,gain-of-function,response, FGFR inhibitors,case report,emerging,27870574,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
endometrial,FGFR1,amplification,copy number gain,gain-of-function,sensitivity,FGFR inhibitors,case report,emerging,ASCO 2017 (abstr 2500),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
head_neck,FGFR1 ,amplification,copy number gain,gain-of-function,sensitivity,FGFR inhibitors,preclinical,emerging,23418312,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
biliary_tract,FGFR2,rearrangement,fusion gene,gain-of-function,sensitivity,FGFR inhibitors,preclinical,emerging,23558953,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,FGFR2,amplification,copy number gain,gain-of-function,response,FGFR inhibitors,case report,emerging,25193991,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
endometrial,FGFR2,S252W,missense mutation,gain-of-function,sensitivity,FGFR inhibitors,preclinical,emerging,"18552176, 22238366, 23002168 ",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
endometrial,FGFR2,N549K,missense mutation,gain-of-function,sensitivity,FGFR inhibitors,preclinical,emerging,"18552176, 22238366, 23002168 ",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
endometrial,FGFR2,V565I,missense mutation,gain-of-function,resistance,dovitinib,preclinical,emerging,23908597,resistance,ponatinib,preclinical,emerging,23908597,sensitivity,selective FGFR inhibitor,preclinical,emerging,ENA 2014 (abstr 381),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
endometrial,FGFR2,"M536I, M538I, I548V, N550, E566G, L618M, K660E ",missense mutation,gain-of-function,resistance,dovitinib,preclinical,emerging,23908597,sensitivity,ponatinib,preclinical,emerging,23908597,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastric,FGFR2,amplification,copy number gain,gain-of-function,response,FGFR inhibitors,early trials,emerging,ASCO 2015 (abstr 2508),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
head_neck,FGFR2,P253R,missense mutation,gain-of-function,response,pazopanib,case report,emerging,23786770,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,FGFR2,A266_S267ins,insertion mutation,gain-of-function,sensitivity,FGFR inhibitors,preclinical,emerging,26048680,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,FGFR2,290_291WI>C,mutation,gain-of-function,sensitivity,FGFR inhibitors,preclinical,emerging,26048680,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_squamous,FGFR2,W290C,missense mutation,gain-of-function,sensitivity,FGFR inhibitors,preclinical,emerging,23786770,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_squamous,FGFR2,S320C,missense mutation,gain-of-function,sensitivity,FGFR inhibitors,preclinical,emerging,23786770,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_squamous,FGFR2,K660N,missense mutation,gain-of-function,sensitivity,FGFR inhibitors,preclinical,emerging,25035393,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,FGFR2,rearrangement,fusion gene,gain-of-function,response,FGFR inhibitors,early trials,emerging,ASCO 2017 (abstr 2500),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
biliary_tract,FGFR2,rearrangement,fusion gene,gain-of-function,response,FGFR inhibitors,early trials,emerging,ASCO 2016 (abstr 109),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
biliary_tract,FGFR2,multiple,missense mutation,gain-of-function,resistance,FGFR inhibitors,early trials,emerging,28034880,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
biliary_tract,FGFR2,mut,missense mutation,gain-of-function,resistance,FGFR inhibitors,early trials,emerging,ASCO 2017 (abstr 2500),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
bladder,FGFR3,any,mutation,gain-of-function,response,FGFR inhibitors,early trials,emerging,27870574,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
bladder,FGFR3,rearrangement,fusion gene,gain-of-function,response,FGFR inhibitors,case report,emerging,"26324363, ASCO 2017 (abstr 2500)",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,FGFR3,rearrangement,fusion gene,gain-of-function,response,FGFR inhibitors,early trials,emerging,26324363,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
myeloma,FGFR3,Y373C,missense mutation,gain-of-function,resistance,bortezomib,preclinical,emerging,"19331127, 21273588",sensitivity,FGFR inhibitors,preclinical,emerging,22869148,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
myeloma,FGFR3,K650,missense mutation,gain-of-function,sensitivity,bortezomib,preclinical,emerging,"19331127, 21273588",sensitivity,FGFR inhibitors,preclinical,emerging,"16091734, 20439987",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
myeloma,FGFR3,V555M,missense mutation,gain-of-function,resistance,FGFR inhibitors,preclinical,emerging,22869148,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,FGFR3,"S249C, G691R",missense mutation,gain-of-function,sensitivity,FGFR inhibitors,preclinical,emerging,27998968,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
rhabdomyosarcoma,FGFR4,N535,missense mutation,gain-of-function,sensitivity,FGFR inhibitors,preclinical,emerging,"19809159, 24124571",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
rhabdomyosarcoma,FGFR4,V550,missense mutation,gain-of-function,sensitivity,FGFR inhibitors,preclinical,emerging,"19809159, 24124571",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
renal,FLCN,any,mutation or copy number loss ,loss-of-function,response,everolimus,case report,emerging,23995526,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
thyroid,FLCN,any,mutation or copy number loss ,loss-of-function,response,everolimus,case report,emerging,25295501,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,FLT3,F691,missense mutation,gain-of-function,resistance,quizartinib,preclinical,emerging,22504184,sensitivity,novel FLT3 inhibitors,preclinical,emerging,"25847190, 25847190",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,FLT3,D835,missense mutation,gain-of-function,resistance,quizartinib,preclinical,emerging,22504184,resistance,ponatinib,preclinical,emerging,23430109,resistance,sorafenib,case report,emerging,22368270,response,midostaurin,case report,emerging,20733134,response,lestaurtinib,case report,emerging,16857985,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,FLT3,N676,missense mutation,gain-of-function,resistance,quizartinib,preclinical,emerging,23878140,sensitivity,"crenolanib, PKC412",preclinical,emerging,24619500,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,FLT3,Y842,missense mutation,gain-of-function,resistance,quizartinib,preclinical,emerging,22504184,resistance,ponatinib,preclinical,emerging,23430109,sensitivity,"crenolanib, PKC412",preclinical,emerging,24619500,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,FLT3,ITD (Y591-597),mutation,gain-of-function,response,quizartinib,early trials,emerging,"ASH 2012 (abstr 673), ASH 2012 (abstr 48)",response,FLT3 inhibitors,early trials,emerging,16857985,response,sorafenib,early trials,emerging,"19389879, 22368270",response,sorafenib + azacytidine,early trials,emerging,23613521,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,FLT3,"ITD (Y591-597), tyrosine kinase domain (p.610-p.946)",mutation,gain-of-function,response,midostaurin,late trials,emerging,ASH 2015,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,FOXA1,amplification,copy number gain,gain-of-function,sensitivity,BCL2 inhibitors,preclinical,emerging,27397505,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
liposarcomas,FRS2,amplification,copy number gain,gain-of-function,sensitivity,FGFR inhibitors,preclinical,emerging,23393200,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,GATA3,any,mutation,gain-of-function,sensitivity,aromatase inhhibitors,preclinical,emerging,24758297,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,GNA11,Q209L,missense mutation,gain-of-function,response,selumetinib,early trials,emerging,ASCO 2013 (abstr CRA9003),sensitivity,PI3K pathway inhibitors + MEK inhibitors,preclinical,emerging,"22733540, 22808163",sensitivity,vorinostat,preclinical,emerging,NCT01587352,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,GNA11,Q209P,missense mutation,gain-of-function,response,selumetinib,early trials,emerging,ASCO 2013 (abstr CRA9003),sensitivity,PI3K pathway inhibitors + MEK inhibitors,preclinical,emerging,"22733540, 22808163",sensitivity,vorinostat,preclinical,emerging,NCT01587352,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,GNAQ,Q209,missense mutation,gain-of-function,response,selumetinib,early trials,emerging,ASCO 2013 (abstr CRA9003),sensitivity,PI3K pathway inhibitors + MEK inhibitors,preclinical,emerging,"22733540, 22808163",sensitivity,PKC inhibitor,preclinical,emerging,"22653968, 22253748 ",sensitivity,HDAC inhibitors,preclinical,emerging,NCT01587352,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,GNAS,R201,missense mutation,gain-of-function,sensitivity,JAK inhibitors,preclinical,emerging,21835143,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,HDAC2,any,mutation or copy number loss,loss-of-function,response,PARP inhibitors,early trials,emerging,26510020,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,HGF,amplification,copy number gain,gain-of-function,resistance,trastuzumab in HER2-ampl,early trials,emerging,22850551,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,HRAS,any,mutation,gain-of-function,sensitivity,MEK inhibitors +/- mTOR inhibitors,preclinical,emerging,"22399013, 22507781",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,HRAS,any,mutation,gain-of-function,sensitivity,tipifarnib,early trials,emerging,NCT02383927,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cervical,HRAS,any,mutation,gain-of-function,sensitivity,PI3K pathway inhibitors + MEK inhibitors,preclinical,emerging,15950068,sensitivity,mTOR inhibitors,preclinical,emerging,22345164,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,IDH1,unknown,missense mutation,switch-of-function,response,IDH1 inhibitor,early trials,emerging,ENA 2014 (abstr 1LBA),sensitivity,BCL2 inhibitors,preclinical,emerging,25599133,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,IDH1,R132H,missense mutation,switch-of-function,sensitivity,IDH1 inhibitor,preclinical,emerging,23558169,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
biliary_tract,IDH1,R132,missense mutation,gain-of-function,sensitivity,dasatinib,preclinical,emerging,27231123,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,IDH1,R132,missense mutation,gain-of-function,sensitivity,PARP inhibitors,preclinical,emerging,28148839,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,IDH2,R140Q,missense mutation,switch-of-function,response,IDH2 inhibitor,early trials,emerging,AACR 2014 (abstr CT103), ,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,IDH2,R172K,missense mutation,switch-of-function,response,IDH2 inhibitor,early trials,emerging,AACR 2014 (abstr CT103),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
biliary_tract,IDH2,R172,missense mutation,gain-of-function,sensitivity,dasatinib,preclinical,emerging,27231123,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,IGF1R,amplification,copy number gain,gain-of-function,resistance,erlotinib,preclinical,emerging,24458568,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,IGF2,amplification,copy number gain,gain-of-function,resistance,anti-EGFR mAbs,early trials,emerging,25632036,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,IL7R ,237-255_indel or S185C,mutation,gain-of-function,sensitivity,ruxolitinib (in SH2B3 deleted),preclinical,emerging,"22897847, 22955920",sensitivity,mTOR inhibitors  (in SH2B3 deleted),preclinical,emerging,22955920,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
malignant_rhabdoid_tumor,INI1,any,mutation or copy number loss,loss-of-function,response,EZH2 inhibitor,case report,emerging,"ENA 2014 (abstr 6LBA), ESMO 2015 (abstract 302)",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,INPP4B,any,mutation or copy number loss,loss-of-function ,sensitivity,PI3K pathway inhibitors,preclinical ,emerging,23551093,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,JAK1,S646F,missense mutation,gain-of-function,sensitivity,ruxolitinib,preclinical,emerging,22955920,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,JAK1,any,mutation,loss-of-function,resistance,PD1 blockade,case report,emerging,27433843,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,JAK1,any,mutation,loss-of-function,resistance,PD1 blockade,case report ,emerging,27903500,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,JAK2,rearrangement,fusion gene,gain-of-function,sensitivity,ruxolitinib,preclinical,emerging,"22875628, 22899477 ",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,JAK2,R683,missense mutation,gain-of-function,sensitivity,ruxolitinib,preclinical,emerging,"18805579, 22955920",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,JAK2,V617F,missense mutation,gain-of-function,response,ruxolitinib,early trials,emerging,22422826,sensitivity,JAK inhibitors (alone or in combination),preclinical,emerging,22829971,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
myelofibrosis,JAK2,V617F,missense mutation,gain-of-function,response,ruxolitinib,FDA-approved,consensus,FDA,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,JAK2,amplification,copy number gain,gain-of-function,sensitivity,JAK inhibitors,preclinical,emerging,27075627,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,JAK2,any,mutation,loss-of-function,resistance,PD1 blockade,case report,emerging,27433843,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
megakaryoblastic_leukemia,JAK3,R657Q,missense mutation,gain-of-function,sensitivity,JAK inhibitors,preclinical,emerging,18397343,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
megakaryoblastic_leukemia,JAK3,I87T,missense mutation,gain-of-function,sensitivity,JAK inhibitors,preclinical,emerging,18397343,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
megakaryoblastic_leukemia,JAK3,Q501H,missense mutation,gain-of-function,sensitivity,JAK inhibitors,preclinical,emerging,18397343,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lymphoma,JAK3 ,A572V,missense mutation,gain-of-function,sensitivity,JAK inhibitors,preclinical,emerging,22705984,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lymphoma,JAK3 ,A573V,missense mutation,gain-of-function,sensitivity,JAK inhibitors,preclinical,emerging,22705984,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,KDR,A1065T,missense mutation,gain-of-function,sensitivity,VEGFR inhibitors,preclinical,emerging,24569783,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,KIT,N822K,missense mutation,gain-of-function,sensitivity,dasatinib,preclinical,emerging,23149070,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,KIT,exon 8 p.416-422,indel,gain-of-function,sensitivity,imatinib,preclinical,emerging,15618474,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,KIT,D816V,missense mutation,gain-of-function,response,dasatinib,case report,emerging,18986703,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastrointestinal_stromal_tumor,KIT,"V559I, H687Y, T670, V654A, A829P, D816, N822, Y823D",missense mutation,gain-of-function,resistance,imatinib,preclinical,emerging,"23582185, 21689725, 17259998",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastrointestinal_stromal_tumor,KIT,exon 9 p.449-514,mutation,gain-of-function,response,"imatinib, sunitinib, regorafenib",FDA-approved,consensus,FDA,decreased sensitivity ,imatinib (low dose),late trials,emerging,"18955458, 18955451, 16624552",response,sorafenib,early trials,emerging,22270258,sensitivity,HSP90 inhibitors,preclinical,emerging,21737509,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastrointestinal_stromal_tumor,KIT,exon 11 p.550-592,mutation,gain-of-function,response,"imatinib, sunitinib, regorafenib",FDA-approved,consensus,FDA,decreased sensitivity,sunitinib,late trials,emerging,18955458,response,sorafenib,early trials,emerging,22270258,response,HSP90 inhibitors,early trials,emerging,22898035,response,ponatinib,early trials,emerging,"25239608, ASCO 2015 (abstr 10535)",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastrointestinal_stromal_tumor,KIT,exon 14 p.664-714,mutation,gain-of-function,response,"imatinib, sunitinib, regorafenib",FDA-approved,consensus,FDA,decreased sensitivity,imatinib,late trials,emerging,18955458,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastrointestinal_stromal_tumor,KIT,exon 17 p.788-828,mutation,gain-of-function,response,"imatinib, sunitinib, regorafenib",FDA-approved,consensus,FDA,decreased sensitivity,"imatinib, sunitinib",preclinical,emerging,23840364,response,nilotinib,early trials,emerging,"22119758, 21456006",sensitivity,sorafenib,preclinical,emerging,23840364,sensitivity,HSP90 inhibitors,preclinical,emerging,21737509,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastrointestinal_stromal_tumor,KIT,"exon 17 p.788-828, exon 18 p.829-860",missense mutation,gain-of-function,response,ponatinib,early trials,emerging,ASCO 2015 (abstr 10517),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastrointestinal_stromal_tumor,KIT,T670I,missense mutation,gain-of-function,resistance ,imatinib,case report,emerging,24687822,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastrointestinal_stromal_tumor,KIT,"A82P9, V654A, T670I",missense mutation,gain-of-function,sensitivity,ponatinib,preclinical,emerging,25239608,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,KIT,"exon 11 p.550-592, exon 13 p.627-664  ",missense mutation,gain-of-function,response,imatinib,NCCN guidelines,consensus,NCCN,response,"imatinib, sunitinib",late trials,emerging,"18421059, 21642685, 21690468, 22261812  ",response,dasatinib,case report,emerging,19671763,response,sorafenib,case report,emerging,18936790,response,nilotinib,early trials,emerging,"22068222, 25695690",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,KIT,amplification,copy number gain,gain-of-function,no response,imatinib,early trials,emerging,23775962, no response,sunitinib,early trials,emerging,22261812,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,KIT,"exon 17 p.788-828, exon 18 p.829-860",missense mutation,gain-of-function,resistance,imatinib,early trials,emerging,"21690468, 21642685",response,sorafenib,case report,emerging,20372153,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,KIT,D820Y,missense mutation,gain-of-function,response,imatinib,case report,emerging,23775962,response,nilotinib,case report,emerging,25695690,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
thymic,KIT,Y553N,missense mutation,gain-of-function,response,imatinib,case report,emerging,21969494,response,sunitinib,case report,emerging,23375402,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
thymic,KIT,D820E,missense mutation,gain-of-function,response,sorafenib,case report,emerging,19461405,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
thymic,KIT,del577-578–579,deletion mutation,gain-of-function,response,sorafenib,case report,emerging,20970876,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
thymic,KIT,V560del,deletion mutation,gain-of-function,response,imatinib,case report,emerging,15201427,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
thymic,KIT,H697Y,missense mutation,gain-of-function,sensitivity,sunitinib,preclinical,emerging,19861435,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastrointestinal_stromal_tumor,KIT ,exon 13 p.627-664,mutation,gain-of-function,response,"imatinib, sunitinib, regorafenib",FDA-approved,consensus,FDA,decreased sensitivity,imatinib,late trials,emerging,18955458,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastrointestinal_stromal_tumor,KIT ,wild type,no mutation,not applicable,decreased sensitivity,imatinib,late trials,emerging,18955458,response,sunitinib,late trials,emerging,18955458,response,sorafenib,early trials,emerging,ASCO 2011 (abstr 10009),sensitivity,dasatinib,preclinical,emerging,16397263,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
systemic_mastocytosis,KIT ,D816V,missense mutation,gain-of-function,response,dasatinib,early trials,emerging,18559612,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,KRAS,any,mutation,gain-of-function,resistance,EGFR TKIs ,NCCN guidelines,consensus,20921461,response,MEK inhibitors,early trials,emerging,"23200175, 24947927, 25667274, 25722381",no response,selumetinib,early trials,emerging,26802155,response,PI3K pathway inhibitors + MEK inhibitors,early trials,emerging,25516890,response,fatty acid synthase inhibitors,case report,emerging,AACR 2016 (abstr LB214),response,pan-RAF inhibitors,case report,emerging,AACR 2016 (abstr CT005),response,CDK4/CDK6 inhibitor abemaciclib,early trials,emerging,27217383,response,pan-RAF inhibitor,early trials,emerging,AACR 2017 (abstr  CT002),response,CDK4/6 inhibitor + MEK inhibitor,early trials,emerging,AACR 2017 (CT046),sensitivity,BET inhibitors in LKB1 wt,preclinical,emerging,"23129625, 24045185",sensitivity,HSP90 inhibitors (in combination),preclinical,emerging,"23012248, 21907929 ",sensitivity,JAK/TBK1/IKKε inhibitor,preclinical,emerging,24444711,sensitivity,FAK inhibitors,preclinical,emerging,23358651,sensitivity,dasatinib + notch inhibitor,preclinical,emerging,26855149,sensitivity,trametinib + ponatinib,preclinical,emerging,27338794
acute_lymphocytic_leukemia,KRAS,G12,missense mutation,gain-of-function,sensitivity,MEK inhibitors,preclinical,emerging,18701506,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,KRAS,any,mutation,gain-of-function,sensitivity,MEK inhibitors,preclinical,emerging,22507781,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
biliary_tract,KRAS,any,mutation,gain-of-function,response,MEK inhibitors,early trials,emerging,23391555,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cervical,KRAS,any,mutation,gain-of-function,sensitivity,MEK inhibitors,preclinical,emerging,22169769,sensitivity,CDK4/6 inhibitors + MEK inhibitors,preclinical,emerging,27167191,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,KRAS,wild type,no mutation,not applicable,response,"cetuximab, panitumumab",FDA-approved,consensus,FDA,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,KRAS,any,mutation,gain-of-function,resistance,"cetuximab, panitumumab",FDA-rejected,consensus,FDA,sensitivity,mTOR inhibitors + BH3 mimetics,preclinical,emerging,24163374,sensitivity,anti-EGFR mAbs + MEK inhibitors,preclinical,emerging ,24553387,sensitivity,MEK inhibitors + PI3K pathway inhibitors ,preclinical,emerging,22392911,sensitivity,MEK inhibitors + BCL-XL inhibitors,preclinical,emerging,23245996,sensitivity,MEK inhibitors + IGF1R inhibitors,preclinical,emerging,24045180,sensitivity,ERK inhibitors,preclinical,emerging ,23614898,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,KRAS,amplification,copy number gain,gain-of-function,resistance,BRAF inhibitor + MEK inhibitor/anti-EGFR mAb,case report,emerging,ENA 2014 (abstr 428),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastric,KRAS,any,mutation,gain-of-function,resistance,anti-EGFR mAbs,preclinical,emerging,"22614881, 22290393",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastrointestinal_stromal_tumor,KRAS,G12,missense mutation,gain-of-function,resistance,imatinib,case report ,emerging,24687822,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
hepatocellular_carcinoma,KRAS,any,mutation,gain-of-function,response,sorafenib + MEK inhibitor,"early trials, case report ",emerging,25294897,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
myeloma,KRAS,any,mutation,gain-of-function,sensitivity,PI3K pathway inhibitors + MEK inhibitors,preclinical,emerging,22985491,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
pancreatic,KRAS,any,mutation,gain-of-function,response ,gemcitabine + MEK inhibitors,early trials,emerging,23583440,no response,PI3K pathway inhibitors + MEK inhibitor,early trials,emerging,ASCO 2015 (abstr 4119),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
endometrial,KRAS,any,mutation,gain-of-function,response,pan-RAF inhibitors,case report,emerging,"AACR 2016 (abstr CT005), AACR 2017 (abstr CT002)",resistance,PI3K pathway inhibitors,preclinical,emerging,22662154,sensitivity,PI3K pathway inhibitors + MEK inhibitors,preclinical,emerging,"21984976, 22662154",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,KRAS,G13D,missense mutation,gain-of-function,no response,cetuximab,late trials,emerging,27114605,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
ovarian,KRAS ,any,mutation,gain-of-function,response,PI3K pathway inhibitors + MEK inhibitors,early trials,emerging,"25500057, 25516890",sensitivity,MEK inhibitors,preclinical,emerging,19018267,sensitivity,decitabine + BCL2 inhibitors,preclinical,emerging,25968887,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
ovarian,LRP1B ,any,mutation or copy number loss,loss-of-function ,resistance,liposomal doxorubicin,early trials,emerging,22896685,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MAP2K1,I99T,missense mutation,gain-of-function,resistance, MEK inhibitors,preclinical,emerging,19915144,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MAP2K1,L115,missense mutation,gain-of-function,resistance, MEK inhibitors,preclinical,emerging,19915144,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MAP2K1,G128D,missense mutation,gain-of-function,resistance, MEK inhibitors,preclinical,emerging,19915144,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MAP2K1,F129L,missense mutation,gain-of-function,resistance, MEK inhibitors,preclinical,emerging,19915144,sensitivity,ERK inhibitors,preclinical,emerging,23614898,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MAP2K1,V211D,missense mutation,gain-of-function,resistance, MEK inhibitors,preclinical,emerging,19915144,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MAP2K1,L215P,missense mutation,gain-of-function,resistance, MEK inhibitors,preclinical,emerging,19915144,sensitivity,ERK inhibitors,preclinical,emerging,23614898,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MAP2K1,I103N,missense mutation,gain-of-function,resistance, MEK inhibitors,preclinical,emerging,19915144,sensitivity,ERK inhibitors,preclinical,emerging,23614898,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MAP2K1,K104N,missense mutation,gain-of-function,resistance, MEK inhibitors,preclinical,emerging,19915144,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MAP2K1,I111N,missense mutation,gain-of-function,resistance, MEK inhibitors,preclinical,emerging,19915144,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MAP2K1,H119P,missense mutation,gain-of-function,resistance, MEK inhibitors,preclinical,emerging,19915144,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MAP2K1,E120D,missense mutation,gain-of-function,resistance, MEK inhibitors,preclinical,emerging,19915144,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MAP2K1,F133L,missense mutation,gain-of-function,resistance, MEK inhibitors,preclinical,emerging,19915144, ,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MAP2K1,Q56P,missense mutation,gain-of-function,sensitivity,trametinib,preclinical,emerging,26582713,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MAP2K1,P124,missense mutation,gain-of-function,resistance, MEK inhibitors,preclinical,emerging,19915144,sensitivity,ERK inhibitors,preclinical,emerging,23614898,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MAP2K1,D67N,missense mutation,gain-of-function,resistance, MEK inhibitors,preclinical,emerging,19915144,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,MAP2K1,unknown,mutation,gain-of-function,resistance,anti-EGFR mAbs,case report,emerging,26030179,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,MAP2K1,K57T,missense mutation,gain-of-function,response,panitumumab + trametinib,case report,emerging,26644315,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,MAP2K1,P124L,missense mutation,gain-of-function,resistance,"BRAF inhibitors, MEK inhibitors",case report,emerging,19915144,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,MAP2K1,P124S,missense mutation,gain-of-function,response,BRAF inhibitors in BRAF mutant tumor,case report,emerging,22588879,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,MAP2K1,P124,missense mutation,gain-of-function,resistance,BRAF inhibitors,early trials,emerging,25370473,sensitivity,"MEK inhibitors, ERK inhibitors",preclinical,emerging,25370473,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,MAP2K1,I111S,missense mutation,gain-of-function,response,BRAF inhibitors in BRAF mutant tumor,case report,emerging,22588879,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,MAP2K1,K57E,missense mutation,gain-of-function,resistance,vemurafenib,case report,emerging,23569304,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,MAP2K1,K57N,missense mutation,gain-of-function,resistance, MEK inhibitors,case report,emerging,23444215,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,MAP2K1,C121S,missense mutation,gain-of-function,resistance,"BRAF inhibitors, MEK inhibitors",case report,emerging,21383288,sensitivity,novel MEK inhibitors,preclinical,emerging,24448821,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,MAP2K1,E203K,missense mutation,gain-of-function,resistance,vemurafenib,case report,emerging,23569304,resistance,"BRAF inhibitors, MEK inhibitors",preclinical,emerging,19915144,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,MAP2K1,Q56P,missense mutation,gain-of-function,resistance,vemurafenib,case report,emerging,23569304,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
ovarian,MAP2K1,Q56_V60del,deletion mutation,gain-of-function,response,MEK inhibitors,case report,emerging,26324360,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,MAP2K2,Q60P,missense mutation,gain-of-function,resistance,BRAF + MEK inhibitors,case report,emerging,24265154,sensitivity,ERK inhibitors,preclinical,emerging,24265154,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,MAP2K2,"V35M, L46F, N126D, C125S",missense mutation,gain-of-function,resistance,"BRAF inhibitors, MEK inhibitors",preclinical,emerging,24265153,sensitivity,ERK inhibitors,preclinical,emerging,24265153,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MCL1,amplification,copy number gain,gain-of-function,resistance,anti-tubulin agents,preclinical,emerging,21368834,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
germ-cell tumor,MDM2,amplification,copy number gain,gain-of-function,resistance,cisplatin,early trials,emerging,27646943,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
liposarcomas,MDM2,amplification,copy number gain,gain-of-function,response,MDM2 inhibitors (tumors TP53 wt),early trials,emerging,"23084521, ASCO 2015 (abstr 10564)",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
sarcoma,MDM4,amplification,copy number gain,gain-of-function,sensitivity,MDM2/MDMX inhibitors,preclinical,emerging,24336067,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,MET,amplification,copy number gain,gain-of-function,resistance,anti-EGFR mAbs,early trials,emerging,23729478,response ,cabozantinib + panitumumab,case report,emerging,ENA 2015 (abstract A52),sensitivity,BCL2 inhibitors,preclinical,emerging,27397505,resistance,vemurafenib and panitumumab (in BRAF V600E mutated),case report,emerging,27325282,response,crizotinib and vemurafenib (in BRAF V600E mutated),case report,emerging,27325282,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,MET,rearrangement,fusion gene,gain-of-function,response,crizotinib,case report,emerging,27748748,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
renal,MET,exon 16-19 p.1132-1330,mutation,gain-of-function,response,crizotinib,early trials,emerging,AACR 2016 (abstr CT2006),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
renal,MET,amplification,copy number gain,gain-of-function,response,MET inhibitors,early trials,emerging,"23213094, AACR 2016 (abstr CT2006)",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,MET,amplification,copy number gain,gain-of-function,resistance,trastuzumab in HER2-amplified ,early trials,emerging,22850551,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MET,V1110I,missense mutation,gain-of-function,sensitivity,crizotinib,preclinical,emerging,17483355,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MET,H1112R,missense mutation,gain-of-function,sensitivity,crizotinib,preclinical,emerging,17483355,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MET,M1250I,missense mutation,gain-of-function,sensitivity,crizotinib,preclinical,emerging,17483355,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MET,R988C,missense mutation,gain-of-function,sensitivity,crizotinib,preclinical,emerging,17483355,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MET,T1010I,missense mutation,gain-of-function,sensitivity,crizotinib,preclinical,emerging,17483355,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MET,Y1230C,missense mutation,gain-of-function,reduced sensitivity,crizotinib,preclinical,emerging,17483355,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MET,Y1235D,missense mutation,gain-of-function,reduced sensitivity,crizotinib,preclinical,emerging,17483355,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MET,H1112L,missense mutation,gain-of-function,sensitivity,MET inhibitors,preclinical,emerging,AACR 2012 (abstr 1786),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastric,MET,amplification,copy number gain,gain-of-function,response,crizotinib + trastuzumab (in HER2 co-amplified),case report,emerging,26432108,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastric,MET,amplification,copy number gain,gain-of-function,response,MET inhibitors,early trials,emerging,ASCO GI 2015 (abstr 1),sensitivity,MET inhibitors,preclinical,emerging,"22729845, 23327903",resistance,lapatinib in HER2-amplified,preclinical,emerging,22238368,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,MET,amplification,copy number gain,gain-of-function,response,crizotinib,case report,emerging,22162573,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
hepatocellular_carcinoma,MET,amplification,copy number gain,gain-of-function,response,MET inhibitors,case report,emerging,ENA 2015 (abstract A55),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,MET,amplification,copy number gain,gain-of-function,response,crizotinib,early trials,emerging,"ASCO 2014 (abstr 8001), ASCO 2015 (abstr 2595)",resistance,EGFR TKIs (EGFR mut disease),early trials,emerging,ASCO 2015 (abstr 8089),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
renal,MET,M1268T,missense mutation,gain-of-function,response,MET inhibitors,case report,emerging,23610116,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
renal,MET,H1094R,missense mutation,gain-of-function,response,MET inhibitors,early trials,emerging,23213094,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
renal,MET,kinase domain,mutation,gain-of-function,response,MET inhibitor savolitinib,early trials,emerging,28644771,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
renal,MET,kinase domain,mutation,gain-of-function,response,MET inhibitor savolitinib,early trials,emerging,28644771,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
renal,MET,kinase domain,mutation,gain-of-function,response,MET inhibitor savolitinib,early trials,emerging,28644771,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,MET,D1228V,missense mutation,gain-of-function,resistance,MET inhibitor,case report,emerging,27694386,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MET,exon 14 skipping,splice site mutation,gain-of-function,response,crizotinib,early trials,emerging,"ASCO 2016 (abstr 108), ASCO 2017 (abstr 8511)",response,"crizotinib, cabozantinib",case report,emerging,"25971938, 26215952 ",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,MGMT,any,promoter methylation or deletion,loss-of-function,increased benefit, temozolomide,late trials,emerging,15758010,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,MITF,amplification,copy number gain,gain-of-function,resistance,BRAF inhibitors,case report,emerging,24265153,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,MLL ,rearrangement,fusion gene,gain-of-function,response, daunorubicin,FDA-approved,consensus,22417203,sensitivity,HDAC inhibitors ,preclinical,emerging,22015773,sensitivity,DOT1L inhibitors,preclinical,emerging,21741596,sensitivity,BET inhibitors,preclinical,emerging,21964340,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_squamous,MLL2,mut,mutation,loss-of-function,sensitivity,bicalutamide,preclinical,emerging,27397505,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
myeloproliferative_neoplasm,MPL,W515F,missense mutation,gain-of-function,sensitivity,JAK inhibitors,preclinical,emerging,16834459,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MSH3,any,mutation,loss-of-function,sensitivity,DNA-PKcs inhibitors,preclinical,emerging,24556366,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
renal,MTOR,I1973F,missense mutation,gain-of-function,response,everolimus,case report,emerging,26859683,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
angiosarcoma,MTOR,I1973F,missense mutation,gain-of-function,response,everolimus,case report,emerging,ASCO 2015 (abstr 11010),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
bladder,MTOR,E2014K,missense mutation,gain-of-function,response,everolimus,case report,emerging,24625776,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
bladder,MTOR,E2419K,missense mutation,gain-of-function,response,everolimus,case report,emerging,24625776,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
bladder,MTOR,N1421D,missense mutation,gain-of-function,response,everolimus,case report,emerging,ASCO 2015 (abstr 11010),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MTOR,L1460P,missense mutation,gain-of-function,sensitivity,rapamycin,preclinical,emerging,24631838,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MTOR,S2215Y,missense mutation,gain-of-function,sensitivity,rapamycin,preclinical,emerging,24631838,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MTOR,R2505P,missense mutation,gain-of-function,sensitivity,rapamycin,preclinical,emerging,24631838,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,MTOR,F2108L,missense mutation,gain-of-function,resistance,everolimus,case report,emerging,25295501,sensitivity,mTOR kinase inhibitors,preclinical,emerging,25295501,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastric,MTOR,K1771R,missense mutation,gain-of-function,response,everolimus,case report,emerging,ASCO 2015 (abstr 11010),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
renal,MTOR,Q2223K,missense mutation,gain-of-function,response,everolimus,case report,emerging,24622468,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastric,MTOR,N1421D,missense mutation,gain-of-function,response,everolimus,case report,emerging,26859683,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
angiosarcoma,MTOR,K1771R,missense mutation,gain-of-function,response,everolimus,case report,emerging,26859683,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
myeloma,MYC,amplification,copy number gain,gain-of-function,sensitivity,BET inhibitors,preclinical,emerging,21889194,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
neuroblastoma,MYC,amplification,copy number gain,gain-of-function,sensitivity,FACT inhibitor,preclinical,emerging,26537256,sensitivity,BET inhibitors,preclinical,emerging,23430699,sensitivity,CDK7 inhibitors,preclinical,emerging,25416950,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,MYC,amplification,copy number gain,gain-of-function,sensitivity,PIM inhibitors,preclinical,emerging,25505253,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,MYC,amplification,copy number gain,gain-of-function,sensitivity,temozolomide,preclinical,emerging,27397505,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
waldenstrom macroglobulinemia,MYD88,L265P,missense mutation,gain-of-function,response,ibrutinib,FDA-approved,emerging,25853747,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lymphoma,MYD88,L265P,missense mutation,gain-of-function,response,ibrutinib,case report,emerging,26244327, sensitivity,JAK inhibitors,preclinical,emerging,21179087,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,NF1,any,mutation or copy number loss,loss-of-function,response,PD1 blockade,early trials,emerging,ASCO 2016 (abstr 105),sensitivity,trametinib,preclinical,emerging,24576830,resistance,BRAF inhibitors in BRAF mutant tumor,preclinical,emerging,"23288408, 24576830",resistance,selumetinib in BRAF mutant tumors,case report,emerging,"23444215, 23288408",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
"malignant_peripheral_nerve_sheat_tumor, leukemia",NF1,any,mutation or copy number loss,loss-of-function ,no response,everolimus + bevacizumab,early trials,emerging,ASCO 2016 (abstr 11053),sensitivity,mTOR inhibitors,preclinical,emerging,"18483311, 20505189, 24509877",sensitivity,MEK inhibitors,preclinical,emerging,23221341,sensitivity,mTOR inhibitors + HSP90 inhibitors,preclinical,emerging,21907929,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,NF1,any,mutation or copy number loss,loss-of-function,sensitivity,mTOR inhibitors,preclinical,emerging,19573811,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
head_neck,NF1,D1644A,missense mutation,loss-of-function,response,everolimus,case report,emerging,26859683,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
hepatocellular_carcinoma,NF1,mut,mutation,loss-of-function,response,everolimus + pazopanib,case report,emerging,24931142,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
schwannoma,NF2,any,mutation or copy number loss,loss-of-function ,response,everolimus,early trials,emerging,25567352,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,NF2,any,mutation,loss-of-function,response,tensirolimus plus chemotherapy,case report,emerging,25878190,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
"meningioma, PEComa",NF2,any,mutation or copy number loss,loss-of-function ,sensitivity,mTOR inhibitors,preclinical,emerging,"19451225, 22426462, 22927055 ",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
mesothelioma,NF2,any,mutation or copy number loss,loss-of-function ,response,FAK inhibitors,early trials,emerging,ENA 2012 (abstr 610),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
schwannoma,NF2,any,mutation,loss-of-function ,response,bevacizumab,early trials,emerging,22805104,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
schwannoma,NF2,any,mutation,loss-of-function ,response,lapatinib,early trials,emerging,22844108,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
schwannoma,NF2,any,mutation or copy number loss,loss-of-function ,sensitivity,PAK inhibitors,preclinical,emerging,23960073,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,NOTCH1,rearrangement,fusion gene,gain-of-function,sensitivity,Gamma secretase inhibitors,preclinical,emerging,"16688224, 23033986 ",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
adenoid_cystic_carcinoma,NOTCH1,PEST domain p.2245-2536,mutation,gain-of-function,response,NOTCH1 inhibitor,case report,emerging,27870570,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,NOTCH1,PEST domain p.2245-2536,mutation,gain-of-function,response,Gamma secretase inhibitors,early trials,emerging,ASCO 2006 (abstr 6585),sensitivity,Gamma secretase inhibitors,preclinical,emerging,"15472075, 19778842, 22510873, 23001755",sensitivity,Gamma secretase inhibitors + mTOR inhibitors,preclinical,emerging,19246562,sensitivity,Gamma secretase inhibitors + CDK4 inhibitors,preclinical,emerging,19318552,response,steroids early setting,late trials,emerging,"20861909, 20861920, 20944675",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,NOTCH1,HD p.1529-1723,mutation,gain-of-function,response,Gamma secretase inhibitors,early trials,emerging,ASCO 2006 (abstr 6585),sensitivity,Gamma secretase inhibitors,preclinical,emerging,"15472075, 19778842, 22510873, 23001755  ",sensitivity,Gamma secretase inhibitors + mTOR inhibitors,preclinical,emerging,19246562,sensitivity,Gamma secretase inhibitors + CDK4 inhibitors,preclinical,emerging,19318552,response,steroids early setting,late trials,emerging,"20861909, 20861920, 20944675",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,NOTCH1,rearrangement,fusion gene,gain-of-function,sensitivity,Gamma secretase inhibitors,preclinical,emerging,22101766,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,NOTCH1,PEST domain p.2245-2536,mutation,gain-of-function,sensitivity,Gamma secretase inhibitors,preclinical,emerging,25564152,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
mantle_cell_lymphoma,NOTCH1,any,mutation ,gain-of-function,sensitivity,Gamma secretase inhibitors,preclinical,emerging,22210878,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,NOTCH2,PEST domain p.2010-2472,mutation,gain-of-function,sensitivity,Gamma secretase inhibitors,preclinical,emerging,25564152,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,NOTCH2,rearrangement,fusion gene,gain-of-function,sensitivity,Gamma secretase inhibitors,preclinical,emerging,22101766,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,NPM1,any,mutation,loss-of-function,response, daunorubicin,FDA-approved,consensus,22417203,response,ATRA (non-FLT3 ITD AML),late trials,emerging,19059939,sensitivity,DOT1L inhibitors + MLL1 inhibitors,preclinical,emerging,27535106,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,NRAS,any,missense mutation,gain-of-function,response,MEK inhibitors,late trials,emerging,"23414587, ASCO 2016 (abstr 9500)",response,MEK inhibitors,early trials,emerging,"18390968, 22761467",response,MEK inhibitors + CDK4/6 inhibitors,early trials,emerging,ASCO 2014 (abstr 9009),response,pan-RAF inhibitors,case report,emerging,"ESMO 2015 (abstract 300), AACR 2017 (abstr CT002)",sensitivity,HSP90 inhibitors,preclinical,emerging,23538902,resistance,BRAF inhibitors  ,early trials,emerging,"23569304, 24265153",response,ERK inhibitors,case report,emerging ,ASCO 2017 (abstr 2508),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_lymphocytic_leukemia,NRAS,any,mutation,gain-of-function,sensitivity,MEK inhibitors,preclinical,emerging,18701506,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,NRAS,any,mutation,gain-of-function,sensitivity,MEK inhibitors,preclinical,emerging,22507781,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,NRAS,G12C,missense mutation,gain-of-function,sensitivity,ERK inhibitors,preclinical,emerging,23614898,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,NRAS,any,mutation,gain-of-function,resistance,"cetuximab, panitumumab",NCCN guidelines,consensus,"24024839, 20619739, 23325582 ",sensitivity,MEK inhibitors +/- PI3K pathway inhibitors ,preclinical,emerging,"23274911, 22392911 ",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
hepatocellular_carcinoma,NRAS,any,mutation,gain-of-function,response,sorafenib + MEK inhibitor,"early trials, case report ",emerging,25294897,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,NRAS,any,mutation,gain-of-function,sensitivity,MEK inhibitors,preclinical,emerging,23515407,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
myeloma,NRAS,any,mutation,gain-of-function,sensitivity,PI3K pathway inhibitors + MEK inhibitors,preclinical,emerging,22985491,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,NRG1,rearrangement,fusion gene,gain-of-function,response,afatinib,case report,emerging,AACR 2016 (abstr 2631),sensitivity,lapatinib,preclinical,emerging,24727320,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,NTRK1,"G595R, G667C",missense mutation,gain-of-function,resistance,pan-TRK inhibitor,preclinical,emerging,26546295,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,NTRK1,rearrangement,fusion gene,gain-of-function,response,pan-TRK inhibitor,case report ,emerging,26546295,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,NTRK1,rearrangement,fusion gene,gain-of-function,response,crizotinib,case report,emerging,ASCO 2013 (abstr 8023),sensitivity,TRK inhibitors,preclinical,emerging,24162815,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,NTRK1,rearrangement,fusion gene,gain-of-function,response,pan-TRK inhibitor,early trials,emerging,"28183697, ASCO 2017 (LBA2501)",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastrointestinal_stromal_tumor,NTRK3,rearrangement,fusion gene,gain-of-function,response,pan-TRK inhibitor,case report,emerging,AACR 2016 (abstr CT008),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,NTRK3,rearrangement,fusion gene,gain-of-function,sensitivity,"midostaurin, IGF1R inhibitors, PI3K pathway inhibitors",preclinical,emerging,"21148487, 23131561",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,PAK1,amplification,copy number gain,gain-of-function,sensitivity,PAK inhibitors,preclinical,emerging,23535073,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
pancreatic,PALB2,any,mutation or copy number loss,loss-of-function,response,Mytomycin C,case report,emerging,21135251,response,platinum,case report,emerging,25719666,sensitivity,PARP inhibitors,preclinical,emerging,"25263539, NCT01585805",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,PALB2,any,mutation or copy number loss,loss-of-function,response,PARP inhibitors,early trials,emerging,"AACR 2015 (abstr CT322), 26510020",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,PBRM1,any,mutation or copy number loss,loss-of-function,sensitivity,EZH2 inhibitor in RAS wt ,preclinical,emerging,26552009,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastrointestinal_stromal_tumor,PDGFRA,"R748G,Y894C",missense mutation,gain-of-function,response,"imatinib, sunitinib, regorafenib",NCCN guidelines,consensus,NCCN,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,PDGFRA,amplification,copy number gain,gain-of-function,no sensitivity,PDGFR inhibitors,preclinical,emerging,23544171,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
hypereosinophilic_syndrome,PDGFRA,T674I,missense mutation,gain-of-function,resistance,imatinib,case report,emerging,12660384,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
hypereosinophilic_syndrome,PDGFRA,rearrangement,fusion gene,gain-of-function,response,imatinib,FDA-approved,consensus,FDA,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,PDGFRA,"P577S, R841K, H845Y, G853D",missense mutation,gain-of-function,sensitivity,"imatinib, crenolanib",preclinical,emerging,24132921,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
myeloproliferative_neoplasm,PDGFRA,rearrangement,fusion gene,gain-of-function,response,imatinib,FDA-approved,consensus,FDA,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastrointestinal_stromal_tumor,PDGFRA ,D842V,missense mutation,gain-of-function,resistance,"imatinib, sunitinib","late trials, preclinical",emerging,"22718859, 16638875",response,crenolanib,early trials,emerging,ASCO 2016 (abstr 11010),sensitivity,HSP90 inhibitors,preclinical,emerging,18794084,sensitivity,dasatinib,preclinical,emerging,18794084,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastrointestinal_stromal_tumor,PDGFRA ,exon 12 p.552-596,mutation,gain-of-function,response,"imatinib, sunitinib, regorafenib",NCCN guidelines,consensus,NCCN,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastrointestinal_stromal_tumor,PDGFRA ,exon 14 p.631-668,mutation,gain-of-function,response,"imatinib, sunitinib, regorafenib",NCCN guidelines,consensus,NCCN,,,,,, ,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastrointestinal_stromal_tumor,PDGFRA ,exon 18 p.814-854,mutation,gain-of-function,response,"imatinib, sunitinib, regorafenib",NCCN guidelines,consensus,NCCN,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastrointestinal_stromal_tumor,PDGFRA ,wild type,no mutation,not applicable,decreased sensitivity,imatinib,late trials,emerging,"14645423, 18955458",response,sunitinib,late trials,emerging,18955458,response,sorafenib,early trials,emerging,ASCO 2011 (abstr 10009),sensitivity,dasatinib,preclinical,emerging,16397263,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,PDGFRA ,V658A,missense mutation,gain-of-function,sensitivity,crenolanib,preclinical,emerging,24132921,resistance,imatinib,preclinical,emerging,24132921,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,PDPK1,amplification,copy number gain,gain-of-function,sensitivity,PI3K pathway inhibitors ,preclinical,emerging,19602588,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
endometrial,PIK3CA,any, mutation,gain-of-function,response,PI3K pathway inhibitors,early trials,emerging,"22271473, 27672108",, , ,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
bladder,PIK3CA,any, mutation,gain-of-function,response,PI3K pathway inhibitors,case report,emerging,ASCO 2015 (abstr 2516),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,PIK3CA,amplification,copy number gain,gain-of-function,resistance,PI3K pathway inhibitors,preclinical,emerging,24366379,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cervical,PIK3CA,any, mutation,gain-of-function,response,PI3K pathway inhibitors,early trials,emerging,"22271473, ASCO 2013 (abstr 2531)",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,PIK3CA,any , mutation,gain-of-function,response,aspirin in adjuvant setting,late trials,emerging,23094721,resistance,cetuximab  ,late trials,emerging,"19223544, 20619739",sensitivity,PI3K pathway inhibitors (alone or in combination),preclinical,emerging,"23475782, 22392911  ",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastric,PIK3CA,any,mutation,gain-of-function,response,PI3K alpha inhibitors,case report,emerging,ASCO 2015 (abstr 2501),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,PIK3CA, any,mutation,gain-of-function,sensitivity,PI3K pathway inhibitors,preclinical,emerging,19671762,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
head_neck,PIK3CA,any,mutation,gain-of-function,response,PI3K pathway inhibitors,case report,emerging,"26787751, 26763254 ",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,PIK3CA,any ,mutation,gain-of-function,no response,PI3K pathway inhibitors,early trials,emerging,ASCO 2017 (abstr 9054),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
ovarian,PIK3CA,any, mutation,gain-of-function,response,PI3K pathway inhibitors,early trials,emerging,"22271473, AACR 2013 (abstr LB-66), 25231405",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
thyroid,PIK3CA,any,mutation,gain-of-function,sensitivity,PI3K pathway inhibitors,preclinical,emerging,21289267,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,PIK3CA,any, mutation,gain-of-function,response,PI3K aplha inhibitors,early trials,emerging,28331003,response,PI3K pathway inhibitors,early trials,emerging,22271473,response,everolimus + trastuzumab + chemotherapy (HER2 ampl),late trials,emerging,27091708,response,AKT inhibitors,early trials,emerging,ASCO 2015 (abstr 2500),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,PIK3CB,D1067Y,missense mutation,gain-of-function,resistance,PI3K pathway inhibitors,case report,emerging,26759240,sensitivity,"AKT inhibitor, mTORC1/2 inhibitors",preclinical,emerging,26759240,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
head_neck,PIK3CB,any,mutation,gain-of-function,sensitivity,"AKT inhibitor, mTORC1/2 inhibitors",preclinical,emerging,23619167,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
endometrial,PIK3R1,any,mutation,loss-of-function,response,PI3K pathway inhibitors,case report,emerging,ASCO 2015 (abstr 11075),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,PIK3R1,any,mutation,loss-of-function,sensitivity,AKT inhibitors,preclinical,emerging,23166678,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
endometrial,PIK3R2,A171V,missense mutation,loss-of-function,sensitivity,mTOR inhibitors,preclinical,emerging,"21984976, 19962665 ",,, , , ,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
endometrial,PIK3R2,N561D,missense mutation,loss-of-function,sensitivity,mTOR inhibitors,preclinical,emerging,21984976,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
chronic_lymphocytic_leukemia,PLCG2,"R665W, L845F",missense mutation,gain-of-function,resistance,ibrutinib,early trials,emerging,24869598,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,PML-RARA,rearrangement,fusion gene,gain-of-function,response,ATRA + arsenic trioxide,FDA-approved,consensus,FDA,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,POLE,exonuclease domain,missense mutation,gain-of-function,response,PD1 blockade,case report,emerging,"27001570, 27683556",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
endometrial,POLE,exonuclease domain,missense mutation,gain-of-function,response,PD1 blockade,case report,emerging,27159395,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,POLE,any,mutation,loss-of-function,response,PD1 blockade,case report,emerging,28188185,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
chronic_myeloid_leukemia,PRKCH,amplification,copy number gain,gain-of-function,sensitivity,trametinib (plus imatinib in BCR-ABL),preclinical,emerging,25186176,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
basal_cell_carcinoma,PTCH1,any,mutation,loss-of-function,response,vismodegib,FDA-approved,emerging,19726763,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
medulloblastoma,PTCH1,any,mutation,loss-of-function,response,vismodegib,FDA-approved,emerging,19726761,sensitivity,foretinib,preclinical,emerging,25391241,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,PTEN,any,mutation or copy number loss,loss-of-function,resistance,BRAF inhibitors in BRAF mutant tumor,early trials,emerging,http://ascopubs.org/doi/abs/10.1200/PO.16.00054,resistance,MEK inhibitors in BRAF mutant tumors,preclinical,emerging,23039341,resistance,PD1 inhibitors,early trials,emerging,26645196,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,PTEN,any,mutation or copy number loss,loss-of-function ,sensitivity,PI3K pathway inhibitors,preclinical,emerging,"23085766, 22932669",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,PTEN,any,mutation or copy number loss,loss-of-function,response,sirolimus,early trials,emerging,ASCO 2013 (abstr 2532),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,PTEN,any,mutation or copy number loss,loss-of-function,resistance,anti-EGFR mAbs,late trials,emerging,"21163703, 19398573 ",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
endometrial,PTEN,any,mutation or copy number loss,loss-of-function,response,PARP inhibitors,case report,emerging,"21468130, 20944090",no response,mTOR inhibitors,early trials,emerging,"21788564, 23238879 ",sensitivity,PI3K pathway inhibitors,preclinical,emerging,22662154,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,PTEN,any,mutation or copy number loss,loss-of-function,sensitivity,PI3K pathway inhibitors (alone or in combination),preclinical,emerging,"21325073, 21191045, 17804702",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,PTEN,any,mutation or copy number loss,loss-of-function,sensitivity,PI3K pathway inhibitors (alone or in combination),preclinical,emerging,23136191,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
ovarian,PTEN,any,mutation or copy number loss,loss-of-function,sensitivity ,PI3K pathway inhibitors,preclinical,emerging,21632463,sensitivity ,PI3K pathway inhibitors + MEK inhibitors,preclinical,emerging,21632463,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
pancreatic,PTEN,any,mutation or copy number loss,loss-of-function,response,AKT inhibitors,case report,emerging,22025163,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,PTEN,any,mutation or copy number loss,loss-of-function,response,everolimus,early trials,emerging,23582881,sensitivity,PI3K pathway inhibitors + AR antagonists,preclinical,emerging,21575859,response,PI3K beta inhibitor,case report,emerging,ASCO 2014 (abstr 2514^),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
thyroid,PTEN,any,mutation or copy number loss,loss-of-function,sensitivity,PI3K pathway inhibitors,preclinical,emerging,21289267,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,PTEN,any,mutation or copy number loss,loss-of-function,resistance,PI3K aplha inhibitors,"early trials, case report ",emerging,25409150,response,everolimus + trastuzumab + chemotherapy (HER2 ampl),late trials,emerging,27091708,sensitivity,ATM inhibitor,preclinical,emerging,27397505,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,PTEN ,any,mutation or copy number loss,loss-of-function ,sensitivity,PI3K pathway inhibitors ,preclinical,emerging,"21673091, 23287563, 21998291 ",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
sarcoma,PTPRD,mut,missense mutation,gain-of-function,response,IGF-1R antibodies,case report,emerging,23800680,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,RAC1,P29S,missense mutation,gain-of-function,resistance,BRAF inhibitors in BRAF mutant tumors,case report,emerging,25056119,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,RAD50,L1237F,missense mutation,loss-of-function,response,irinotecan plus CHK1/2 inhibitor in ATM deficient tumor,case report,emerging,24934408,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
ovarian,RAD51C,any,mutation,loss-of-function,response,PARP inhibitors,early trials,emerging,ASCO 2015 (abstr 5508),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,RAF1,S257P,missense mutation,gain-of-function,resistance,BRAF inhibitors in BRAF mutant tumors,preclinical,emerging,23737487,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,RAF1,P261P,missense mutation,gain-of-function,resistance,BRAF inhibitors in BRAF mutant tumors,preclinical,emerging,23737487,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,RAF1,G361A,missense mutation,gain-of-function,resistance,BRAF inhibitors in BRAF mutant tumors,preclinical,emerging,23737487,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,RAF1,rearrangement,fusion gene,gain-of-function,sensitivity,"sorafenib, MEK inhibitors",preclinical,emerging,20526349,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
bladder,RB1,any,mutation,loss-of-function,response,cisplatin,early trials,emerging,26238431,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
retinoblastoma,RB1,any,mutation or copy number loss,loss-of-function,sensitivity,MDM2/MDMX inhibitors,preclinical,emerging," 17080083, 21515735",sensitivity,HDAC inhibitors,preclinical,emerging,18483379,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,RET,rearrangement,fusion gene,gain-of-function,response,"cabozantinib, vandetanib, sunitinib",early trials,emerging,28447912,response,nintedanib ,case report,emerging,26787234,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,RET,I788N,missense mutation,gain-of-function,resistance,ponatinib,preclinical,emerging,28615362,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
thyroid,RET,"codon 618, 620, 634, 768, 791, 891, 918",missense mutation,gain-of-function,response,vandetanib,FDA-approved,consensus,"20065189, 22025146",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
thyroid,RET,C634W,missense mutation,gain-of-function,response,vandetanib,FDA-approved,consensus,"20065189, 22025146",sensitivity ,"cabozantinib, sunitinib",preclinical,emerging,21470995,sensitivity, RET inhibitors,preclinical,emerging,23056499,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
thyroid,RET,M918T,missense mutation,gain-of-function,response,vandetanib,FDA-approved,consensus,"20065189, 22025146",sensitivity,"cabozantinib, sunitinib",preclinical,emerging,21470995,sensitivity, RET inhibitors,preclinical,emerging,23056499,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
thyroid,RET-PTC1,rearrangement,fusion gene,gain-of-function,sensitivity ,"cabozantinib, vandetanib, sunitinib",preclinical,emerging,21470995,sensitivity, RET inhibitors,preclinical,emerging,23056499,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,RICTOR,amplification,copy number gain,gain-of-function,response,mTORC1/2 inhibitors,case report,emerging,26370156,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,RNF43,any,mutation,gain-of-function,response,porcupine inhibitors,case report,emerging,ENA 2015 (abstract C45),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
pancreatic,RNF43,any,mutation,gain-of-function,sensitivity,FZD5 antibodies,preclinical,emerging,27869803,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
inflammatory_myofibroblastic_tumor,ROS1,rearrangement,fusion gene,gain-of-function,response,crizotinib,case report,emerging,24875859,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,ROS1,rearrangement,fusion gene,gain-of-function,response,crizotinib,FDA-approved,consensus,FDA,response,cabozantinib,case report,emerging,27370605,sensitivity,HSP90 inhibitors,preclinical,emerging,23533265,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,ROS1,G2032R,missense mutation,gain-of-function,resistance,crizotinib,case report,emerging,"23724914, 25688157",sensitivity,cabozantinib,preclinical,emerging,25351743,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,ROS1,"S1986Y, S1986F",missense mutation,gain-of-function,resistance,"crizotinib, ceritinib",case report,emerging,27401242,response,lorlatinib,case report,emerging,27401242,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
melanoma,SERPINB3,mut,mutation,loss-of-function,response,anti-CTLA4 mAbs,early trials,emerging,27668655,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,SETD2,any,mutation or copy number loss,loss-of-function,sensitivity,WEE1 inhibitors,preclinical,emerging,ENA 2014 (abstr 211),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,SF3B1,"K700E, K666N",mutation,gain-of-function,sensitivity,spliceosome inhibitor,preclinical,emerging,"ENA 2014 (abstr 456), ENA 2014 (abstr 575), 25424858",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
myeloproliferative_neoplasm,SH2B3,any,mutation or copy number loss,loss-of-function,sensitivity,JAK inhibitors,preclinical,emerging,20404132,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,SMARCA1,any,mutation or copy number loss,loss-of-function,sensitivity,EZH2 inhibitor in RAS wt ,preclinical,emerging,26552009,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
ovarian_rhabdoid_tumor,SMARCA4,any,mutation or copy number loss,loss-of-function,response,EZH2 inhibitor,case report,emerging,ESMO 2015 (abstract 302),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
malignant_rhabdoid_tumor,SMARCB1,mut,mutation,loss-of-function,sensitivity,HDAC inhibitors,preclinical,emerging,26920892,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
basal_cell_carcinoma,SMO,"G497W, D473Y",missense mutation,gain-of-function,resistance,vismodegib,case report,emerging,25306392,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
medulloblastoma,SMO,D473H,missense mutation,gain-of-function,resistance,vismodegib,case report,emerging,"19726788, 25759019 ",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung,SMO,P641A,missense mutation,gain-of-function,response,vismodegib,case report,emerging,ASCO 2017 (abstr 9062),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lymphoma,SOCS1,any,mutation ,loss-of-function,sensitivity,JAK inhibitors,preclinical,emerging,22025331,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,SRSF2,any,mutation,loss-of-function,sensitivity,spliceosome inhibitor,preclinical,emerging,27135740,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
glioma,STAG2,any,mutation,loss-of-function,sensitivity,PARP inhibitors,preclinical,emerging,24356817,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,STK11,any,mutation or copy number loss,loss-of-function ,sensitivity,mTOR inhibitors,preclinical,emerging,19541609,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lung_adeno,STK11,any,mutation or copy number loss,loss-of-function,sensitivity,MEK inhibitors ,preclinical,emerging,19165201,resistance,MEK inhibitors + docetaxel in KRAS mutant,preclinical,emerging,22425996,sensitivity ,phenformin,preclinical,emerging,23352126,sensitivity,mTOR inhibitors ,preclinical,emerging,19165201,sensitivity,SRC inhibitors (in combination with PI3K/MEK inhibitors),preclinical,emerging,20541700,resistance,PD1 blockade (if KRAS co-mutation),early trials,emerging,ASCO 2017 (abstr 9016),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
pancreatic,STK11,D194E,missense mutation,loss-of-function ,response,everolimus,case report,emerging,21189378,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,SUZ12,any,mutation or copy number loss,loss-of-function,sensitivity,BET inhibitors,preclinical,emerging,25119042,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
"mantle_cell_lymphoma, chronic_lymphocytic_leukemia",SYK,amplification,copy number gain,gain-of-function,sensitivity,SYK inhibitors,preclinical,emerging,"16409295, 19549911",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
prostate,TMPRSS2,rearrangement,fusion gene,gain-of-function,sensitivity,PARP inhibitors ,preclinical ,emerging ,21575865,sensitivity,DNA-PKc inhibitors,preclinical,emerging,21575865,,,,, ,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,TOP2A,amplification,copy number gain,gain-of-function,response,anthracyclines,late trials,emerging,22864769,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
breast,TP53,mut,mutation,loss-of-function,resistance,CDK4/CDK6 inhibitor abemaciclib,early trials,emerging,27217383,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
germ-cell tumor,TP53,mut,mutation,loss-of-function,resistance,cisplatin,early trials,emerging,27646943,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,TP53,mut,mutation,loss-of-function,response,decitabine,early trials,emerging,27959731,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
myelodisplastic_syndrome,TP53,mut,mutation,loss-of-function,response,decitabine,early trials,emerging,27959731,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,TP53,"R248Q, R175H",missense mutation,gain-of-function,sensitivity,HSP90 inhibitors,preclinical,emerging,26009011,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
head_neck,TP53,any,mutation,loss-of-function,sensitivity,WEE1 inhibitors,preclinical,emerging,25125259,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
ovarian,TP53,any,mutation,gain-of-function,response,WEE1 inhibitors + carboplatin,early trials,emerging,ASCO2015 (abstr 2507),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
thymic_lymphoma,TP53,any,mutation,loss-of-function,sensitivity,pramlintide,preclinical,emerging,25409149,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
bladder,TP53,mut,mutation,loss-of-function,sensitivity,"mitomycin C, gemcitabine, doxorubicin",preclinical,emerging,27397505,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
acute_myeloid_leukemia,TP53,wild type,no mutation,loss-of-function,response,HDM2 inhibitor,early trials,emerging,AACR 2017 (abstr CT152),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,TRKA,G595R,missense mutation,gain-of-function,resistance,larotrectinib,preclinical,emerging,28578312,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,TRKC ,G623R,missense mutation,gain-of-function,resistance,larotrectinib,preclinical,emerging,28578312,response,novel TRK inhibitors,case report,emerging,28578312,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
sarcoma,TSC1,any,mutation,loss-of-function,response,everolimus,case report,emerging,26859683,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
renal,TSC1,any,mutation or copy number loss ,loss-of-function,response,everolimus,case report,emerging,"24622468, 26859683, ASCO 2015 (abstr 11010), ASCO 2015 (abstr 4519)",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
"angiomyolipoma, PEComa",TSC1,any,mutation,loss-of-function,response,mTOR inhibitors  ,early trials,emerging,"23312829, 21525172, 20048174",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
bladder,TSC1,any,mutation,loss-of-function,response,everolimus,early trials,emerging,22923433,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
endometrial,TSC1,any,missense mutation,gain-of-function,response,tensirolimus ,case report,emerging,27016228,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
gastric,TSC2,any,mutation,loss-of-function,response,everolimus,case report,emerging,26859683,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
"angiomyolipoma, PEComa",TSC2,any, mutation   ,loss-of-function,response,mTOR inhibitors  ,early trials,emerging,"23312829, 21525172, 20048174",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
lymphangioleiomyomatosis,TSC2,any,mutation or copy number loss,loss-of-function,sensitivity,SRC inhibitors,preclinical,emerging,24691995,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
thyroid,TSC2,any, mutation   ,loss-of-function,response,everolimus,case report,emerging,25295501,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
endometrial,TSC2,any,missense mutation,gain-of-function,response,tensirolimus ,case report,emerging,27016228,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
cancer_unspecified,U2AF1,mut,mutation,loss-of-function,sensitivity,FLT3 inhibitors,preclinical,emerging,27397505,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
hepatocellular_carcinoma,VEGFA,amplification,copy number gain,gain-of-function,response,sorafenib,early trials,emerging,24687604,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
colorectal,ZNRF3,any,mutation,gain-of-function,sensitivity,porcupine inhibitors,preclinical,emerging,26023187,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,