Gene: BRAF ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Efficacy at the recommended phase 2 dose was studied in patients with BRAF-mutant tumours, including those with non-Val600Glu mutations, in three cohorts: metastatic melanoma, melanoma with untreated brain metastases, and non-melanoma solid tumours. 22608338

2012
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR A patient with V600E BRAF-mutant melanoma and another with platinum-refractory epithelial ovarian cancer exhibiting PTEN loss and PIK3CA amplification demonstrated partial response by RECIST and GCIG-CA125 criteria, respectively. 25370471

2015
dbSNP: rs113488022
rs113488022
BRAF
T 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: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR The HSP90 inhibitor XL888 overcomes BRAF inhibitor resistance mediated through diverse mechanisms. 22351686

2012
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR To identify determinants of acquired resistance to GSK2118436 and strategies to overcome the resistance, we isolated GSK2118436 drug-resistant clones from the A375 BRAF(V600E) and the YUSIT1 BRAF(V600K) melanoma cell lines. 22389471

2012
dbSNP: rs113488022
rs113488022
BRAF
T 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: rs121913227
rs121913227
BRAF
TT 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: rs121913227
rs121913227
BRAF
TT 0.800 CausalMutation CLINVAR Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial. 22735384

2012
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 Improved survival with vemurafenib in melanoma with BRAF V600E mutation. 21639808

2011
dbSNP: rs121913227
rs121913227
BRAF
CT 0.800 CausalMutation CLINVAR Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutations. 23317446

2013
dbSNP: rs121913227
rs121913227
BRAF
CT 0.800 CausalMutation CLINVAR Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib. 22356324

2012
dbSNP: rs121913227
rs121913227
BRAF
TT 0.800 CausalMutation CLINVAR Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma. 22972589

2013
dbSNP: rs121913227
rs121913227
BRAF
CT 0.800 CausalMutation CLINVAR We have treated 45 patients with V600 mutated melanoma including patients with V600R mutation between July 2011 and October 2012 with the selective BRAF inhibitor dabrafenib (n=43) or vemurafenib (n=2) via a compassionate access programme. 23237741

2013
dbSNP: rs121913227
rs121913227
BRAF
CT 0.800 CausalMutation CLINVAR Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial. 22735384

2012
dbSNP: rs121913227
rs121913227
BRAF
CT 0.800 CausalMutation 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: rs121913227
rs121913227
BRAF
TT 0.800 CausalMutation CLINVAR Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study. 24508103

2014
dbSNP: rs121913227
rs121913227
BRAF
CT 0.800 CausalMutation CLINVAR Inhibition of mutated, activated BRAF in metastatic melanoma. 20818844

2010
dbSNP: rs121913227
rs121913227
BRAF
TT 0.800 CausalMutation CLINVAR Improved survival with MEK inhibition in BRAF-mutated melanoma. 22663011

2012
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 Improved survival with vemurafenib in melanoma with BRAF V600E mutation. 21639808

2011
dbSNP: rs121913227
rs121913227
BRAF
TT 0.800 CausalMutation 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: rs121913227
rs121913227
BRAF
CT 0.800 CausalMutation CLINVAR Improved survival with MEK inhibition in BRAF-mutated melanoma. 22663011

2012
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 Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial. 22805292

2012