Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
TT 0.800 CausalMutation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157

2003

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Management of V600E and V600K BRAF-Mutant Melanoma. 31741065

2019

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
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
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The DDFI was significantly shorter in patients with BRAF(V600K/R) versus BRAF(V600E) melanoma in univariate and multivariate analyses. 24918823

2014

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Tumor-specific tandem mutations, encoding either V599K, V599R, or V599E, were found in 5 of 17 (29%) melanomas with BRAF exon 15 mutations. 15140228

2004

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
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
CUI: C0025202
Disease: melanoma
melanoma
CT 0.800 CausalMutation CLINVAR Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib. 22356324

2012

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
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
CUI: C0025202
Disease: melanoma
melanoma
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: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
TT 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
TT 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: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Practical performance assessment employed 33 independent tissue samples, composed of 27 leukemias (by pyrosequencing: 8 wild-type; 18 mutated; 1 noninformative) and 6 melanomas (V600E; V600K; wild-type, 2 each). 25611237

2016

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
CT 0.800 CausalMutation CLINVAR Inhibition of mutated, activated BRAF in metastatic melanoma. 20818844

2010

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE These results support distinct etiologies for BRAF V600E, BRAF V600K, NRAS<sup>+</sup>, and wild-type melanomas. 28842324

2017

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
TT 0.800 CausalMutation CLINVAR Inhibition of mutated, activated BRAF in metastatic melanoma. 20818844

2010

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
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
CUI: C0025202
Disease: melanoma
melanoma
CT 0.800 CausalMutation CLINVAR Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial. 22608338

2012

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Downstream of Ras, the serine/threonine kinase B-raf has been reported to be mutated, among other carcinomas, in a substantial subset of primary melanomas with a preponderance of mutations within the kinase domain including the activating V599E and V599K transitions. 15935100

2005

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE In this study, sensitive and quantitative BRAF V600E and V600K mutation-specific real-time quantitative PCR was used to study the occurrence of small subsets of mutation-positive cells in primary melanomas and melanoma metastases. 23499336

2013

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
CT 0.800 CausalMutation CLINVAR RG7204 (PLX4032), a selective BRAFV600E inhibitor, displays potent antitumor activity in preclinical melanoma models. 20551065

2010

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
CT 0.800 CausalMutation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157

2003

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE 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
CUI: C0025202
Disease: melanoma
melanoma
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
CUI: C0025202
Disease: melanoma
melanoma
CT 0.800 CausalMutation CLINVAR Improved survival with MEK inhibition in BRAF-mutated melanoma. 22663011

2012

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
TT 0.800 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002