Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
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
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: rs121913227
rs121913227
TT 0.800 CausalMutation CLINVAR Database of genomic biomarkers for cancer drugs and clinical targetability in solid tumors. 25656898

2015

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

2014

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

2014

dbSNP: rs113488022
rs113488022
T 0.800 CausalMutation CLINVAR Dabrafenib and trametinib, alone and in combination for BRAF-mutant metastatic melanoma. 24583796

2014

dbSNP: rs113488022
rs113488022
T 0.800 CausalMutation CLINVAR Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence. 24576830

2014

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

2014

dbSNP: rs121913227
rs121913227
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
TT 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913227
rs121913227
CT 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913351
rs121913351
G 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913351
rs121913351
T 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913377
rs121913377
TT 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913377
rs121913377
AT 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913377
rs121913377
TT 0.800 GeneticVariation 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
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
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
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: rs121913227
rs121913227
CT 0.800 CausalMutation CLINVAR Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutations. 23317446

2013

dbSNP: rs121913227
rs121913227
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
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
TT 0.800 CausalMutation CLINVAR Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma. 23918947

2013