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 In addition, a double mutation resulting in V599K substitution was detected in two suspect ocular metastases of cutaneous melanoma. 14522889

2003

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
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 The kinetics of ctDNA derived from each cancer type were monitored targeting BRAF V600R (melanoma) and KRAS G13D (colon cancer), specifically reflected the status of the patient's tumours. 31727009

2019

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The history of melanoma prompted molecular analysis, and the lesion was found to harbor the BRAF V600K mutation, consistent with metastatic dedifferentiated melanoma. 30562218

2019

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
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
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The safety and efficacy of cobimetinib for the treatment of BRAF V600E or V600K melanoma. 27219630

2016

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 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
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 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 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 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
CUI: C0025202
Disease: melanoma
melanoma
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
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The US FDA approved a liquid biopsy test for EGFR activating mutations in patients with non-small cell lung cancer (NSCLC) as a companion diagnostic for therapy selection. ctDNA also allows for the identification of mutations selected by treatment such as EGFR T790M in NSCLC. ctDNA can also detect mutations such as KRAS G12V in colorectal cancer and BRAF V600E/V600K in melanoma. 30335711

2018

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE V600K, V600Q, and V600R BRAF melanomas did not positively stain with VE1. 24917033

2014

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The US Food and Drug Administration approved a liquid biopsy test for EGFR-activating mutations in patients with non-small-cell lung cancer as a companion diagnostic for therapy selection. ctDNA also allows for the identification of mutations selected by treatment such as EGFR T790M in non-small-cell lung cancer. ctDNA can also detect mutations such as KRAS G12V in colorectal cancer and BRAF V600E/V600K in melanoma. 30883505

2019

dbSNP: rs121913227
rs121913227
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE In total, 88 patients (54%) had BRAFm melanoma (V600E/V600K). 26659191

2016

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
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
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
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
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