Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167806
rs1114167806
MSH2
T 0.700 CausalMutation CLINVAR

dbSNP: rs34612342
rs34612342
MUTYH
C 0.700 CausalMutation CLINVAR

dbSNP: rs113488022
rs113488022
BRAF
0.020 GeneticVariation BEFREE The BRAF c.1799T>A p.V600E mutation was detected in both the brain and skin tumor cells but not in the blood or normal skin cells, suggesting somatic mosaicsism for the mutation. 26360803

2016
dbSNP: rs121913377
rs121913377
BRAF
0.020 GeneticVariation BEFREE The BRAF c.1799T>A p.V600E mutation was detected in both the brain and skin tumor cells but not in the blood or normal skin cells, suggesting somatic mosaicsism for the mutation. 26360803

2016
dbSNP: rs113488022
rs113488022
BRAF
0.020 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: rs121913377
rs121913377
BRAF
0.020 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: rs387907272
rs387907272
MYD88
0.010 GeneticVariation BEFREE Pre-treatment testing of the localized cutaneous tumor lesion on a lymphoid amplicon panel demonstrated an <i>MYD88</i> p.L265P mutation. 29899297

2018
dbSNP: rs1042522
rs1042522
TP53
0.010 GeneticVariation BEFREE Subjects carrying allele C of rs1042522 were associated with an increased risk of occupational skin neoplasms [<i>P</i>=0.027, odds ratio (OR)=1.97, 95% confidence intervals (CI) 1.08-3.63]. 29167767

2017
dbSNP: rs121913227
rs121913227
BRAF
0.010 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: rs28934576
rs28934576
TP53
0.010 GeneticVariation BEFREE Here, we show, using conditional mouse technology, that epithelium-specific heterozygous expression of mutant p53 (i.e., the p53.R270H mutation that is equivalent to the human hotspot R273H) results in an increased incidence of spontaneous and UVB-induced skin tumors. 17510390

2007
dbSNP: rs63750398
rs63750398
MSH2
0.010 GeneticVariation BEFREE Here, we studied the repair efficiency of the two MSH2 missense mutations, L187P and C697F, found in HNPCC families including a few mutation carriers with sebaceous skin tumors. 16327991

2006