Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 PLA2G6 rs132985*T was associated with BRAF V600E (OR = 1.32, 95% CI = 1.05-1.67) and BRAF other (OR = 1.82, 95% CI = 1.11-2.98), but not BRAF V600K or NRAS+ melanoma. 29753029

2018

dbSNP: rs121913227
rs121913227
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
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 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 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 In addition, a double mutation resulting in V599K substitution was detected in two suspect ocular metastases of cutaneous melanoma. 14522889

2003