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
CT 0.800 CausalMutation CLINVAR Phase II study of the MEK1/MEK2 inhibitor Trametinib in patients with metastatic BRAF-mutant cutaneous melanoma previously treated with or without a BRAF inhibitor. 23248257

2013
dbSNP: rs121913227
rs121913227
BRAF
CT 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: rs121913351
rs121913351
BRAF
T 0.800 GeneticVariation CLINVAR Frequency and spectrum of BRAF mutations in a retrospective, single-institution study of 1112 cases of melanoma. 23273605

2013
dbSNP: rs121913377
rs121913377
BRAF
TT 0.800 GeneticVariation CLINVAR Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma. 23918947

2013
dbSNP: rs121913377
rs121913377
BRAF
AT 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: rs121913377
rs121913377
BRAF
AT 0.800 CausalMutation CLINVAR Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutations. 23317446

2013
dbSNP: rs113488022
rs113488022
BRAF
T 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: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial. 22805292

2012
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Overwhelming response to Dabrafenib in a patient with double BRAF mutation (V600E; V600M) metastatic malignant melanoma. 23031422

2012
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Here, CDK2/4 inhibition statistically significantly augmented the effects of BRAF(V600E)- or MEK-inhibitors on melanoma cell viability in vitro and growth in athymic nude Foxn1 ( nu ) mice (P = .03 when mean tumor volume at day 13 was compared for BRAF(V600E) inhibitor vs BRAF(V600E) inhibitor plus CDK2/4 inhibition; P = .02 when mean tumor volume was compared for MEK inhibitor vs MEK inhibitor plus CDK2/4 inhibition; P values were calculated by a two-sided Welch t test; n = 4-8 mice per group). 22997239

2012
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib. 22356324

2012
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Improved survival with MEK inhibition in BRAF-mutated melanoma. 22663011

2012
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations. 23020132

2012
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Patients aged 18 years or older with previously untreated, stage IV or unresectable stage III BRAF(V600E) mutation-positive melanoma were randomly assigned (3:1) to receive dabrafenib (150 mg twice daily, orally) or dacarbazine (1000 mg/m(2) intravenously every 3 weeks). 22735384

2012
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials. 22536370

2012
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 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: 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
CT 0.800 CausalMutation CLINVAR Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib. 22356324

2012
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 Improved survival with MEK inhibition in BRAF-mutated melanoma. 22663011

2012
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