Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.090 GeneticVariation BEFREE A subset of melanomas carrying a B-Raf proto-oncogene, serine/threonine kinase gene (BRAF) V600E mutation, which is the most common targetable mutation in melanoma, arise in association with a melanocytic nevus that is also harboring a BRAF V600E mutation. 29653212

2018

dbSNP: rs121913377
rs121913377
0.090 GeneticVariation BEFREE A subset of melanomas carrying a B-Raf proto-oncogene, serine/threonine kinase gene (BRAF) V600E mutation, which is the most common targetable mutation in melanoma, arise in association with a melanocytic nevus that is also harboring a BRAF V600E mutation. 29653212

2018

dbSNP: rs113488022
rs113488022
0.090 GeneticVariation BEFREE We provided genetic evidence that Mitf E318K enhances BRaf V600E -induced nevus formation in vivo (mean nevus number for Mitf E318K , BRaf V600E vs Mitf WT , BRaf V600E , 68 vs 44, difference = 24, 95% CI = 9.1 to 38.9, P  = .006). 28376192

2017

dbSNP: rs121913377
rs121913377
0.090 GeneticVariation BEFREE We provided genetic evidence that Mitf E318K enhances BRaf V600E -induced nevus formation in vivo (mean nevus number for Mitf E318K , BRaf V600E vs Mitf WT , BRaf V600E , 68 vs 44, difference = 24, 95% CI = 9.1 to 38.9, P  = .006). 28376192

2017

dbSNP: rs113488022
rs113488022
0.090 GeneticVariation BEFREE The absence of the BRAF V600E mutation within a changing naevus supports the theory that BRAFi stimulates the proliferation of wild-type BRAF cells. 25380183

2015

dbSNP: rs113488022
rs113488022
0.090 GeneticVariation BEFREE Nine cases presented concomitant BRAF and NRAS mutations, including one case in which both the melanoma and the adjacent naevus harboured V600E and Q61K double mutations. 25857817

2015

dbSNP: rs121913377
rs121913377
0.090 GeneticVariation BEFREE The absence of the BRAF V600E mutation within a changing naevus supports the theory that BRAFi stimulates the proliferation of wild-type BRAF cells. 25380183

2015

dbSNP: rs121913377
rs121913377
0.090 GeneticVariation BEFREE Nine cases presented concomitant BRAF and NRAS mutations, including one case in which both the melanoma and the adjacent naevus harboured V600E and Q61K double mutations. 25857817

2015

dbSNP: rs113488022
rs113488022
0.090 GeneticVariation BEFREE Of the primary melanomas with an associated naevus (n = 29), 55% were BRAF(V600</span>E) mutant with 100% concordance between the melanoma and associated naevus. 24614711

2014

dbSNP: rs113488022
rs113488022
0.090 GeneticVariation BEFREE There was no significant association between BRAF(V600E) mutation and sex, histologic type, the Clark level, the Breslow index, solar elastosis, angiolymphatic and perineural invasion, satellitosis, and coexisting nevus. 24471189

2014

dbSNP: rs121913377
rs121913377
0.090 GeneticVariation BEFREE There was no significant association between BRAF(V600E) mutation and sex, histologic type, the Clark level, the Breslow index, solar elastosis, angiolymphatic and perineural invasion, satellitosis, and coexisting nevus. 24471189

2014

dbSNP: rs121913377
rs121913377
0.090 GeneticVariation BEFREE Of the primary melanomas with an associated naevus (n = 29), 55% were BRAF(V600</span>E) mutant with 100% concordance between the melanoma and associated naevus. 24614711

2014

dbSNP: rs113488022
rs113488022
0.090 GeneticVariation BEFREE All neoplastic melanocytes within such a nevus would be expected to carry the BRAF mutation, and thus we evaluated the frequency of cells with BRAF(V600E) mutations within acquired nevi by droplet digital polymerase chain reaction. 23690527

2013

dbSNP: rs121913377
rs121913377
0.090 GeneticVariation BEFREE All neoplastic melanocytes within such a nevus would be expected to carry the BRAF mutation, and thus we evaluated the frequency of cells with BRAF(V600E) mutations within acquired nevi by droplet digital polymerase chain reaction. 23690527

2013

dbSNP: rs113488022
rs113488022
0.090 GeneticVariation BEFREE The predominant BRAF mutation T1799A (V600E) was detected in 18 nevi; 1 nevus had a novel A1781G (D594V) mutation in the same gene and 3 nevi had mutations in codon 61 of the N-ras gene. 15009715

2004

dbSNP: rs113488022
rs113488022
0.090 GeneticVariation BEFREE Among 13 lesions with structural changes, BRAF(V599E) mutations were found in 4 (3 melanomas and 1 nevus). 15373778

2004

dbSNP: rs121913377
rs121913377
0.090 GeneticVariation BEFREE Among 13 lesions with structural changes, BRAF(V599E) mutations were found in 4 (3 melanomas and 1 nevus). 15373778

2004

dbSNP: rs121913377
rs121913377
0.090 GeneticVariation BEFREE The predominant BRAF mutation T1799A (V600E) was detected in 18 nevi; 1 nevus had a novel A1781G (D594V) mutation in the same gene and 3 nevi had mutations in codon 61 of the N-ras gene. 15009715

2004

dbSNP: rs149617956
rs149617956
0.030 GeneticVariation BEFREE We provided genetic evidence that Mitf E318K enhances BRaf V600E -induced nevus formation in vivo (mean nevus number for Mitf E318K , BRaf V600E vs Mitf WT , BRaf V600E , 68 vs 44, difference = 24, 95% CI = 9.1 to 38.9, P  = .006). 28376192

2017

dbSNP: rs149617956
rs149617956
0.030 GeneticVariation BEFREE Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients. 23774529

2014

dbSNP: rs149617956
rs149617956
0.030 GeneticVariation BEFREE In stratified analyses, carriage of MITF E318K was associated with melanoma more strongly in people with dark hair than fair hair (P for interaction, 0.03) and in those with no moles than some or many moles (P for interaction, <0.01). 24406078

2014

dbSNP: rs121434595
rs121434595
0.020 GeneticVariation BEFREE We present details of a neonate with extensive naevus sebaceus in whom we identified a pathogenic mutation in HRAS (c.37G > C; p.Gly13Arg), but only in lesional skin DNA, consistent with a mosaic RASopathy. 26400620

2017

dbSNP: rs121434595
rs121434595
0.020 GeneticVariation BEFREE Focused amplicon deep sequencing on DNA extracted from the brain tumor and a cutaneous nevus revealed a heterozygous (c.37G>C; p.G13R) substitution in the NRAS gene. 25330907

2014

dbSNP: rs121913227
rs121913227
0.010 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

dbSNP: rs397507482
rs397507482
0.010 GeneticVariation BEFREE The first patient had stage IV BRAF K601E/L584F mutant melanoma that developed a regressed melanocytic nevus while being treated with pembrolizumab. 29152725

2019