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BRAF (p.V600E)

Variant Data

Location

  • HGVS: ENST00000288602:c.1799T>A
  • Reference Version: GRCh37
  • Chromosome: 7
  • Start: 140453136
  • Stop: 140453136
  • Strand: -1
  • Transcript: ENST00000288602 (ensembl - 74_37)
  • Gene: BRAF ( View drug interactions on DGIdb )

Information

Disease Data

Disease Source Batch Tags External Links
colorectal cancer Davies et al., 2002, Nature My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
gastrointestinal stromal tumor Davies et al., 2002, Nature My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
ovarian cancer Davies et al., 2002, Nature My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Davies et al., 2002, Nature My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
thyroid cancer Davies et al., 2002, Nature My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
lung cancer Davies et al., 2002, Nature My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
lung cancer Brose et al., 2002, Cancer Res. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
lung cancer Naoki et al., 2002, Cancer Res. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Maldonado et al., 2003, J. Natl. Cancer Inst. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
thyroid cancer Gupta-Abramson et al., 2008, J. Clin. Oncol. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
lung cancer Pratilas et al., 2008, Cancer Res. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
ovarian cancer Nakayama et al., 2008, Br. J. Cancer My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
lung cancer Gandhi et al., 2009, PLoS ONE My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
thyroid cancer Kloos et al., 2009, J. Clin. Oncol. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Boulalas et al., Int. J. Biol. Markers My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
colorectal cancer De Roock et al., 2009, Mol Diagn Ther My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
gastrointestinal stromal tumor Agaimy et al., 2009, J. Clin. Pathol. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
thyroid cancer Hoftijzer et al., 2009, Eur. J. Endocrinol. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
colorectal cancer Tejpar et al., 2010, Oncologist My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
thyroid cancer Lam et al., 2010, J. Clin. Oncol. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
colorectal cancer Tol et al., 2010, Eur. J. Cancer My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
colorectal cancer De Roock et al., 2010, Lancet Oncol. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome, Civic logo CIViC
melanoma Rubinstein et al., 2010, J Transl Med My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
gastrointestinal stromal tumor Flaherty et al., 2010, N. Engl. J. Med. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
ovarian cancer Flaherty et al., 2010, N. Engl. J. Med. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Flaherty et al., 2010, N. Engl. J. Med. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
thyroid cancer Flaherty et al., 2010, N. Engl. J. Med. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
colorectal cancer Mao et al., 2011, Mol. Biol. Rep. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
colorectal cancer Rizzo et al., 2010, Cancer Treat. Rev. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Villanueva et al., 2010, Cancer Cell My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
colorectal cancer De Roock et al., 2011, Lancet Oncol. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
colorectal cancer Dienstmann et al., 2011, Anticancer Agents Med Chem My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
lung cancer Paik et al., 2011, J. Clin. Oncol. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
gastrointestinal stromal tumor Chapman et al., 2011, N. Engl. J. Med. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
ovarian cancer Chapman et al., 2011, N. Engl. J. Med. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Chapman et al., 2011, N. Engl. J. Med. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
ovarian cancer Kurman et al., 2011, Hum. Pathol. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
ovarian cancer Haldar et al., 2011, Cochrane Database Syst Rev My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Kirkwood et al., 2012, Clin. Cancer Res. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
colorectal cancer Yang et al., 2012, Cancer Res. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome, Civic logo CIViC
thyroid cancer Hayes et al., 2012, Clin. Cancer Res. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
colorectal cancer Prahallad et al., 2012, Nature My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Paraiso et al., 2012, Clin. Cancer Res. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Sosman et al., 2012, N. Engl. J. Med. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Greger et al., 2012, Mol. Cancer Ther. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
colorectal cancer Corcoran et al., 2012, Cancer Discov My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Lovly et al., 2012, PLoS ONE My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
colorectal cancer Falchook et al., 2012, Lancet My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
gastrointestinal stromal tumor Falchook et al., 2012, Lancet My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
ovarian cancer Falchook et al., 2012, Lancet My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Falchook et al., 2012, Lancet My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
thyroid cancer Falchook et al., 2012, Lancet My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
lung cancer Falchook et al., 2012, Lancet My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
lung cancer Sen et al., 2012, Sci Transl Med My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Flaherty et al., 2012, N. Engl. J. Med. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Hauschild et al., 2012, Lancet My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
lung cancer Gautschi et al., 2012, J Thorac Oncol My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
lung cancer Ohashi et al., 2012, Proc. Natl. Acad. Sci. U.S.A. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Falchook et al., 2012, Lancet Oncol. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Patel et al., 2013, Cancer My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Jalili et al., 2012, J. Natl. Cancer Inst. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Flaherty et al., 2012, N. Engl. J. Med. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
colorectal cancer Mao et al., 2013, Clin. Cancer Res. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
colorectal cancer Peeters et al., 2013, Clin. Cancer Res. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
thyroid cancer Ho et al., 2013, N. Engl. J. Med. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
gastrointestinal stromal tumor Falchook et al., 2013, Oncotarget My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
thyroid cancer Kim et al., 2013, Thyroid My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
lung cancer Rudin et al., 2013, J Thorac Oncol My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
colorectal cancer Coffee et al., 2013, Clin. Cancer Res. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Morris et al., 2013, Cancer Discov My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
lung cancer Cardarella et al., 2013, Clin. Cancer Res. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
colorectal cancer Zecchin et al., 2013, Mol. Cancer Ther. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
colorectal cancer Faber et al., 2014, Cancer Discov My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Ponti et al., 2012, J Hematol Oncol Literature (View variants) likely pathogenic
melanoma Ascierto et al., 2013, J. Clin. Oncol. Literature (View variants) likely pathogenic
melanoma McArthur et al., 2014, Lancet Oncol. Literature (View variants) likely pathogenic
colon cancer Prahallad et al., 2012, Nature Literature (View variants) likely pathogenic
brain cancer Nicolaides et al., 2011, Clin. Cancer Res. Drug Gene Knowledge Database (View variants) likely pathogenic
brain cancer Huillard et al., 2012, Proc. Natl. Acad. Sci. U.S.A. Drug Gene Knowledge Database (View variants) likely pathogenic
myeloma Andrulis et al., 2013, Cancer Discov Drug Gene Knowledge Database (View variants) likely pathogenic
melanoma MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
colon cancer MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
skin melanoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
thyroid carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
colorectal cancer Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
lung adenocarcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
glioblastoma multiforme Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
multiple myeloma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
brain stem glioma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
brain glioma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
papillary renal cell carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
head and neck squamous cell carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
cancer Wan et al., 2004, Cell Kin-Driver (View variants) activatinglikely pathogenic
non-small cell lung carcinoma Rudin et al., 2013, J Thorac Oncol CIViC Knowledgebase (View variants) Civic logo CIViC
melanoma Menzies et al., 2014, Clin. Cancer Res. CIViC Knowledgebase (View variants) Civic logo CIViC
melanoma Penna et al., 2016, Oncotarget CIViC Knowledgebase (View variants) Civic logo CIViC
colorectal cancer Ji et al., 2013, Clin. Cancer Res. CIViC Knowledgebase (View variants) Civic logo CIViC
colorectal cancer Chen et al., 2014, PLoS ONE CIViC Knowledgebase (View variants) Civic logo CIViC
myeloma Andrulis et al., 2013, Cancer Discov CIViC Knowledgebase (View variants) Civic logo CIViC
melanoma Nagore et al., 2014, J. Am. Acad. Dermatol. CIViC Knowledgebase (View variants) Civic logo CIViC
melanoma Nissan et al., 2014, Cancer Res. CIViC Knowledgebase (View variants) Civic logo CIViC
thyroid cancer Crescenzi et al., 2014, Horm. Metab. Res. CIViC Knowledgebase (View variants) Civic logo CIViC
papillary thyroid carcinoma Xing et al., 2014, J. Clin. Oncol. CIViC Knowledgebase (View variants) Civic logo CIViC
melanoma Sarker et al., 2015, Clin. Cancer Res. CIViC Knowledgebase (View variants) Civic logo CIViC
cancer Hatzivassiliou et al., 2013, Nature CIViC Knowledgebase (View variants) Civic logo CIViC
thyroid cancer Howell et al., 2011, Ann. Surg. Oncol. CIViC Knowledgebase (View variants) Civic logo CIViC
colorectal cancer Di Nicolantonio et al., 2008, J. Clin. Oncol. CIViC Knowledgebase (View variants) Civic logo CIViC
colorectal cancer Rad et al., 2013, Cancer Cell CIViC Knowledgebase (View variants) Civic logo CIViC
thyroid cancer He et al., 2014, Oncol Lett CIViC Knowledgebase (View variants) Civic logo CIViC
thyroid cancer Walczyk et al., 2014, Clin. Endocrinol. (Oxf) CIViC Knowledgebase (View variants) Civic logo CIViC
myeloma Andrulis et al., 2013, Cancer Discov CIViC Knowledgebase (View variants) Civic logo CIViC
melanoma Meckbach et al., 2014, PLoS ONE CIViC Knowledgebase (View variants) Civic logo CIViC
colorectal cancer Rowland et al., 2015, Br. J. Cancer CIViC Knowledgebase (View variants) Civic logo CIViC
hairy cell leukemia Tiacci et al., 2011, N. Engl. J. Med. CIViC Knowledgebase (View variants) Civic logo CIViC

Drug Interaction Data

Therapeutic Context Pathway Effect Association Status Evidence Source
dabrafenib activation gain-of-function case report emerging 22608338
cetuximab, panitumumab activation gain-of-function late trials emerging 20619739, 21163703, 23325582
BRAF inhibitors +/- MEK inhibitors activation gain-of-function early trials emerging 22608338, J Clin Oncol 2010;28:(suppl; abstr 3534), J Clin Oncol 2012;30:(suppl; abstr 3528)
BRAF inhibitors + EGFR inhibitors activation gain-of-function preclinical emerging 22281684
BRAF inhibitors + PI3K pathway inhibitors activation gain-of-function preclinical emerging 23251002, 23549875
proteosome inhibitors activation gain-of-function preclinical emerging 24107445.0
preclinical activation gain-of-function preclinical emerging 24163374
dabrafenib activation gain-of-function case report emerging 23470635, 22608338
vemurafenib, dabrafenib, trametinib, dabrafenib + trametinib activation gain-of-function FDA-approved consensus FDA
BRAF inhibitors activation gain-of-function early trials emerging J Clin Oncol 2013;31 (suppl; abstr 9028)
BRAF inhibitors + PI3K pathway inhibitors activation gain-of-function preclinical emerging 22389471, 21156289
BRAF inhibitors + HSP90 inhibitors activation gain-of-function preclinical emerging 22351686
BRAF inhibitors + CDK2/4 inhibitors activation gain-of-function preclinical emerging 22997239.0
preclinical activation gain-of-function preclinical emerging 23614898, 22997239
vemurafenib, dabrafenib activation gain-of-function early trials emerging 22608338, 20818844, 23489023
MEK inhibitors activation gain-of-function early trials emerging 22241789
MEK-enhanced radioiodine uptake activation gain-of-function early trials emerging 23406027
BRAF inhibitors + MEK inhibitors activation gain-of-function early trials emerging J Clin Oncol 2013;31(suppl; abstr 9029)
EGFR TKIs activation gain-of-function case report emerging 22773810
dabrafenib activation gain-of-function early trials emerging 23524406, 22608338, J Clin Oncol 2013;31: (suppl; abstr 8009)
vemurafenib activation gain-of-function case report emerging 22743296
BRAF inhibitors +/- MEK inhibitors activation gain-of-function preclinical emerging 19010912
BRAF inhibitors activation gain-of-function case report emerging 22608338
MEK inhibitors activation gain-of-function preclinical emerging 19018267
BRAF inhibitors activation gain-of-function preclinical emerging 22038996, 22586120
vemurafenib activation gain-of-function case report emerging 23612012
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