Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894094
rs104894094
0.800 GeneticVariation BEFREE In two out of six families with both mesothelioma and melanoma we identified either a germline nonsense mutation (c.1153C > T, p.Arg385*) in BAP1 or a recurrent pathogenic germline mutation (c.301G > T, p.Gly101Trp) in CDKN2A. 27181379

2016

dbSNP: rs104894094
rs104894094
0.800 GeneticVariation BEFREE We found the disease-associated mutations p.R24P (8×), p.N71T (1×), p.G101W (1×), and p.V126D (1×) in the group with affected relatives and p.R24P (2×) in the group with several primary melanomas. 26225579

2015

dbSNP: rs104894094
rs104894094
0.800 GeneticVariation BEFREE Three of them are CDKN2A mutations previously described in the Mediterranean population (p.G101W, p.V59G and c.358delG) in addition to an undescribed deletion (p. M54del) which has been detected in a melanoma kindred. 20653773

2010

dbSNP: rs104894094
rs104894094
0.800 GeneticVariation BEFREE Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries. 17397031

2007

dbSNP: rs104894094
rs104894094
0.800 GeneticVariation BEFREE We investigated the frequency of the MC1R variants in the Italian region of Liguria, where the occurrence and penetrance of melanoma are low and primary susceptibility is characterized by prevalence of the CDKN2A c.301G>T [p.G101W] founder mutation. 15221796

2004

dbSNP: rs104894094
rs104894094
0.800 GeneticVariation BEFREE One G101W-positive PC patient with a melanoma in a first-degree relative harbored a germline deletion of the second allele, including exon 1B. 14679123

2004

dbSNP: rs104894094
rs104894094
0.800 GeneticVariation BEFREE Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients. 15577313

2004

dbSNP: rs104894094
rs104894094
0.800 GeneticVariation BEFREE High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families. 11807902

2002

dbSNP: rs104894094
rs104894094
0.800 GeneticVariation BEFREE Two p16 germline mutations were identified: G101W, which has been previously observed in a number of melanoma kindreds, and G122V, a novel missense mutation. 10951521

2000

dbSNP: rs104894094
rs104894094
0.800 GeneticVariation BEFREE All other variants detected either constitutionally in familial melanoma patients (I49T, R87P, G101W and V126D) or somatically in melanomas (N71S, and P81L), appeared functionally impaired in this assay. 10389768

1999

dbSNP: rs104894094
rs104894094
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894097
rs104894097
0.750 GeneticVariation BEFREE We found the disease-associated mutations p.R24P (8×), p.N71T (1×), p.G101W (1×), and p.V126D (1×) in the group with affected relatives and p.R24P (2×) in the group with several primary melanomas. 26225579

2015

dbSNP: rs104894097
rs104894097
0.750 GeneticVariation BEFREE The cellular activities of four melanoma-associated p16(INK4a) mutations (Arg24Pro, Ala36Pro, Met53Ile, and Val126Asp) were compared by use of inducible expression in stably transfected melanoma cells, deficient in expression of the endogenous protein, and compared with their ability to bind CDK4. 11595726

2001

dbSNP: rs104894097
rs104894097
0.750 GeneticVariation BEFREE We report six of 16 U.K. melanoma families and two of 17 patients with multiple primary melanomas and a negative family history who have between them four different functionally damaging mutations of the CDKN2A (p16) gene: an Arg 24 Pro substitution in exon 1 in one family, a stop codon at codon 44 of exon 1 in one family, and a Met 53 Ile substitution in exon 2 in four families. 9699728

1998

dbSNP: rs104894097
rs104894097
0.750 GeneticVariation BEFREE This mutation, Arg24Pro, has previously been identified in a melanoma kindred. 9334810

1997

dbSNP: rs104894097
rs104894097
0.750 GeneticVariation BEFREE One novel germline mutation was found in exon one, Arg24Pro, which segregates with melanoma in 1/17 kindreds. 8570179

1995

dbSNP: rs104894097
rs104894097
G 0.750 CausalMutation CLINVAR

dbSNP: rs1064794292
rs1064794292
0.710 GeneticVariation BEFREE We detected the p.Gly23Asp missense mutation in one of the two tested melanoma patients of a family with three melanoma cases. 19712690

2009

dbSNP: rs1064794292
rs1064794292
0.710 GeneticVariation UNIPROT

dbSNP: rs121913386
rs121913386
A 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913388
rs121913388
A 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913388
rs121913388
A 0.700 GeneticVariation CLINVAR Combination therapy with vemurafenib (PLX4032/RG7204) and metformin in melanoma cell lines with distinct driver mutations. 21609436

2011

dbSNP: rs36204594
rs36204594
0.700 GeneticVariation UNIPROT

dbSNP: rs771138120
rs771138120
0.070 GeneticVariation BEFREE Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (constitutively active RAS) or mutant activated CDK4(R24C/R24C) (prevents binding of CDK4 by kinase inhibitor p16(INK4A)) with an epidermis-specific knockout of the nuclear retinoid X receptor alpha (RXRα(ep-/-)) results in increased melanoma formation after chronic ultraviolet-B (UVB) irradiation compared with control mice with functional RXRα. 25189354

2015

dbSNP: rs771138120
rs771138120
0.070 GeneticVariation BEFREE A mutation of the p16(INK4a)-binding domain of the cyclin dependent kinase 4 (CDK4) gene, R24C, has been reported in some cases of melanoma. 12731669

2003