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
0.800 GeneticVariation BEFREE Melanomas had p.V600E (n = 30), p.V600K (n = 4), p.K601E (n = 1), p.600-601delinsE (n = 1), or no p.V600 mutations (n = 31). 23651150

2014

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE V600R mutation and double (V600E -V600M) mutation were identified in two melanomas.In one case, V600K mutation was found.Two screening failures were noted. 23463675

2013

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE V600R-mutant melanoma accounts for a significant number of cases even in single-institution practices. 31305324

2020

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
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

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Among the 20 melanomas with completed BRAF-sequencing analysis, 6 (30%) harbored a mutation, of which 5 (83%) had a V600E mutation and 1 (17%) had a V600R mutation. 22809251

2012

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Amongst BRAF-mutant melanoma, the frequency of non-V600E genotypes (including V600K) increased with increasing age. 22535154

2012

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE BRAFp.V600E, p.V600K, and p.V600R Mutations in Malignant Melanoma: Do They Also Differ in Immunohistochemical Assessment and Clinical Features? 26633701

2016

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE CAST-PCR gave rapid and accurate results for the common V600E and V600K mutations, however additional assays are required to detect rarer BRAF mutation types found in 3-4% of melanomas. 23584600

2013

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 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
CT 0.800 CausalMutation CLINVAR Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations. 23020132

2012

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 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
TT 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
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
TT 0.800 CausalMutation CLINVAR Database of genomic biomarkers for cancer drugs and clinical targetability in solid tumors. 25656898

2015

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

2013

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Eligible participants were adult patients (aged ≥18 years) with histologically or cytologically confirmed surgically resectable clinical stage III or oligometastatic stage IV BRAF<sup>V600E</sup> or BRAF<sup>V600K</sup> (ie, Val600Glu or Val600Lys)-mutated melanoma. 29361468

2018

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE If confirmed using larger numbers of V600K tumors, our results may prove useful for designing clinical management and targeted chemotherapeutical interventions for BRAF V600K-positive melanomas. 28858076

2017

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

2012