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 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 Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma. 23918947

2013
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 Mutational analysis of the BRAF gene in transitional cell carcinoma of the bladder. 19404918

2009
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR BRAF-V600 mutations have no prognostic impact in stage IV melanoma patients treated with monochemotherapy. 24586605

2014
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Prognostic value of BRAF mutations in localized cutaneous melanoma. 24388723

2014
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 Discovery of a novel ERK inhibitor with activity in models of acquired resistance to BRAF and MEK inhibitors. 23614898

2013
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 Vemurafenib produced improved rates of overall and progression-free survival in patients with previously untreated melanoma with the BRAF V600E mutation. 21639808

2011
dbSNP: rs113488022
rs113488022
BRAF
T 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: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
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 Dabrafenib and trametinib, alone and in combination for BRAF-mutant metastatic melanoma. 24583796

2014
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 Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence. 24576830

2014
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Primary cross-resistance to BRAFV600E-, MEK1/2- and PI3K/mTOR-specific inhibitors in BRAF-mutant melanoma cells counteracted by dual pathway blockade. 26678033

2016
dbSNP: rs113488022
rs113488022
BRAF
T 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: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Acquired resistance to BRAF inhibitors mediated by a RAF kinase switch in melanoma can be overcome by cotargeting MEK and IGF-1R/PI3K. 21156289

2010
dbSNP: rs113488022
rs113488022
BRAF
G 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157

2003