Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913364
rs121913364
0.720 GeneticVariation BEFREE Twenty-three percent of patients with V600E- and 43% of patients with K601E-mutant melanomas presented with nodal disease at diagnosis compared to just 14% of patients with BRAF wild-type tumors (P = 0.001 and 0.006, respectively). 26643848

2016

dbSNP: rs121913364
rs121913364
0.720 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: rs121913364
rs121913364
C 0.720 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913364
rs121913364
C 0.720 GeneticVariation CLINVAR Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma. 22972589

2013

dbSNP: rs121913364
rs121913364
C 0.720 GeneticVariation 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: rs121913364
rs121913364
C 0.720 GeneticVariation CLINVAR Improved survival with MEK inhibition in BRAF-mutated melanoma. 22663011

2012

dbSNP: rs121913364
rs121913364
C 0.720 GeneticVariation CLINVAR Improved survival with vemurafenib in melanoma with BRAF V600E mutation. 21639808

2011

dbSNP: rs121913364
rs121913364
C 0.720 GeneticVariation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157

2003

dbSNP: rs121913364
rs121913364
C 0.720 GeneticVariation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002