Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913227
rs121913227
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.080 GeneticVariation BEFREE Interestingly, by droplet digital PCR, the V600E mutation was also detected in the first primary, and the V600K in the second primary and metastases. 30222690

2019

dbSNP: rs121913227
rs121913227
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.080 GeneticVariation BEFREE Mutant allele-specific imbalance of the p.V600E mutation was predominantly present in specimens with distant organ metastases (79% versus 27% in LN metastases versus 13% in primary cutaneous tumors or adjacent soft tissue, P < .001). p.V600K was detected in 23% of men older than 60 years old, compared with 6% in women older than 60 years old and 2% in both men and women younger than 60 years old (P < .001). 25456393

2015

dbSNP: rs121913227
rs121913227
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.080 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
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.080 GeneticVariation BEFREE The disease-free interval from diagnosis of primary melanoma to first distant metastasis was shorter for patients with V600K compared with V600E melanoma (17.4 vs. 39.2 months, P = 0.048), with no difference in survival thereafter. 22535154

2012

dbSNP: rs121913227
rs121913227
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.080 GeneticVariation BEFREE In melanoma, V600K mutations in comparison to other BRAF mutations were associated with more frequent brain (75% vs. 36.3%, p = 0.02) and lung metastases (91.6% vs. 47.7%, p = 0.007), and shorter time from diagnosis to metastasis and to death (19 vs. 53 months, p = 0.046 and 78 vs. 322 months, p = 0.024 respectively). 22039425

2011

dbSNP: rs121913227
rs121913227
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.080 GeneticVariation BEFREE As to the B-raf protein sequence, the acidic amino acid transitions V599E and V599K were predicted in 19/60 (32%) and 6/60 (10%) cases, respectively, but were not associated with enhanced risk for subsequent metastasis in patients' follow up. 15935100

2005

dbSNP: rs121913227
rs121913227
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.080 GeneticVariation BEFREE The oncogenic B-raf mutations V599E and V599K, as early events in melanocyte transformation, persist throughout metastasis with important prognostic implications. 16179870

2005

dbSNP: rs121913227
rs121913227
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.080 GeneticVariation BEFREE In addition, a double mutation resulting in V599K substitution was detected in two suspect ocular metastases of cutaneous melanoma. 14522889

2003