Gene: BRAF ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913227
rs121913227
BRAF
TT 0.800 CausalMutation CLINVAR Inhibition of mutated, activated BRAF in metastatic melanoma. 20818844

2010
dbSNP: rs121913227
rs121913227
BRAF
CT 0.800 CausalMutation CLINVAR RG7204 (PLX4032), a selective BRAFV600E inhibitor, displays potent antitumor activity in preclinical melanoma models. 20551065

2010
dbSNP: rs121913377
rs121913377
BRAF
AT 0.800 CausalMutation CLINVAR Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032. 20630094

2010
dbSNP: rs121913377
rs121913377
BRAF
AT 0.800 CausalMutation CLINVAR In the dose-escalation cohort, among the 16 patients with melanoma whose tumors carried the V600E BRAF mutation and who were receiving 240 mg or more of PLX4032 twice daily, 10 had a partial response and 1 had a complete response. 20818844

2010
dbSNP: rs121913377
rs121913377
BRAF
AT 0.800 CausalMutation CLINVAR Our findings offer evidence of the potent antitumor activity of RG7204 against melanomas harboring the mutant BRAF(V600E) gene. 20551065

2010
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Mutational analysis of the BRAF gene in transitional cell carcinoma of the bladder. 19404918

2009
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157

2003
dbSNP: rs121913227
rs121913227
BRAF
CT 0.800 CausalMutation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157

2003
dbSNP: rs121913227
rs121913227
BRAF
TT 0.800 CausalMutation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157

2003
dbSNP: rs121913377
rs121913377
BRAF
AT 0.800 CausalMutation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157

2003
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs121913227
rs121913227
BRAF
TT 0.800 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs121913227
rs121913227
BRAF
CT 0.800 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs121913377
rs121913377
BRAF
AT 0.800 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs121913338
rs121913338
BRAF
C 0.720 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913364
rs121913364
BRAF
C 0.720 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913366
rs121913366
BRAF
C 0.720 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913366
rs121913366
BRAF
T 0.720 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913364
rs121913364
BRAF
C 0.720 GeneticVariation CLINVAR Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma. 22972589

2013
dbSNP: rs121913366
rs121913366
BRAF
T 0.720 CausalMutation CLINVAR Major clinical response to a BRAF inhibitor in a patient with a BRAF L597R-mutated melanoma. 23715574

2013
dbSNP: rs121913366
rs121913366
BRAF
T 0.720 CausalMutation CLINVAR Clinical, pathologic, and biologic features associated with BRAF mutations in non-small cell lung cancer. 23833300

2013
dbSNP: rs121913366
rs121913366
BRAF
C 0.720 CausalMutation CLINVAR Major clinical response to a BRAF inhibitor in a patient with a BRAF L597R-mutated melanoma. 23715574

2013
dbSNP: rs121913366
rs121913366
BRAF
C 0.720 CausalMutation CLINVAR Clinical, pathologic, and biologic features associated with BRAF mutations in non-small cell lung cancer. 23833300

2013
dbSNP: rs121913364
rs121913364
BRAF
C 0.720 GeneticVariation CLINVAR Phase II, open-label, randomized trial of the MEK1/2 inhibitor selumetinib as monotherapy versus temozolomide in patients with advanced melanoma. 22048237

2012
dbSNP: rs121913364
rs121913364
BRAF
C 0.720 GeneticVariation CLINVAR Improved survival with MEK inhibition in BRAF-mutated melanoma. 22663011

2012