Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913227
rs121913227
0.800 GeneticVariation BEFREE In addition, a double mutation resulting in V599K substitution was detected in two suspect ocular metastases of cutaneous melanoma. 14522889

2003

dbSNP: rs121913227
rs121913227
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
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
0.800 GeneticVariation BEFREE Preponderance of the oncogenic V599E and V599K mutations in the B-raf kinase domain is enhanced in melanoma lymph node metastases. 16179870

2005

dbSNP: rs121913227
rs121913227
0.800 GeneticVariation BEFREE We have evaluated five real-time ARMS assays: BRAF 1799T>A, [this includes V600E and V600K] and NRAS 182A>G [Q61R] and 181C>A [Q61K] in melanoma, EGFR 2573T>G [L858R], 2235-2249del15 [E746-A750del] in non-small-cell lung cancer, and compared the results to DNA sequencing of the mutation 'hot-spots' in these genes in formalin-fixed paraffin-embedded tumour (FF-PET) DNA. 20925915

2010

dbSNP: rs121913227
rs121913227
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
0.800 GeneticVariation BEFREE Vemurafenib has been extensively tested on melanoma patients expressing the BRAFV600E mutated form; it has been demonstrated to be also effective in inhibiting melanomas carrying the V600K mutation. 22554099

2012

dbSNP: rs121913227
rs121913227
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
0.800 GeneticVariation BEFREE One (6·7%, 0·2-31·9) of 15 patients with Val600Lys BRAF-mutant melanoma achieved an overall intracranial response in cohort A, as did four (22·2%, 6·4-47·6) of 18 such patients in cohort B. Treatment-related adverse events of grade 3 or worse occurred in 38 (22%) patients. 23051966

2012

dbSNP: rs121913227
rs121913227
0.800 GeneticVariation BEFREE 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
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
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
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
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
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
0.800 GeneticVariation BEFREE In a patient with a BRAF(V600K)-mutant melanoma responding to vemurafenib, we observed accelerated progression of a previously unrecognized NRAS-mutant leukemia. 24589925

2014

dbSNP: rs121913227
rs121913227
0.800 GeneticVariation BEFREE V600K, V600Q, and V600R BRAF melanomas did not positively stain with VE1. 24917033

2014

dbSNP: rs121913227
rs121913227
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
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
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
0.800 GeneticVariation BEFREE In total, 88 patients (54%) had BRAFm melanoma (V600E/V600K). 26659191

2016

dbSNP: rs121913227
rs121913227
0.800 GeneticVariation BEFREE The safety and efficacy of cobimetinib for the treatment of BRAF V600E or V600K melanoma. 27219630

2016

dbSNP: rs121913227
rs121913227
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
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
0.800 GeneticVariation BEFREE The second patient had stage III BRAF V600R mutant melanoma that was treated with pembrolizumab and dabrafenib, and also developed a regressed melanocytic nevus. 29152725

2019