Gene: CDKN2A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894098
rs104894098
CDKN2A
0.710 GeneticVariation BEFREE We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 mutations (V126D-p16 and R87P-p16) with the gene expression profile of SFs from age-matched individuals without p16 mutations and with no family history of melanoma. 23371019

2013
dbSNP: rs878853647
rs878853647
CDKN2A
0.710 GeneticVariation BEFREE We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 mutations (V126D-p16 and R87P-p16) with the gene expression profile of SFs from age-matched individuals without p16 mutations and with no family history of melanoma. 23371019

2013
dbSNP: rs1034265990
rs1034265990
CDKN2A
0.010 GeneticVariation BEFREE Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma. 30586141

2019
dbSNP: rs1131691186
rs1131691186
CDKN2A
0.010 GeneticVariation BEFREE Our data show that the p.G23S mutation is an important cause of hereditary melanoma in Tuscany. 17992122

2007
dbSNP: rs121913384
rs121913384
CDKN2A
0.010 GeneticVariation BEFREE A novel germline mutation p.E88X, associated with hereditary melanoma in two unrelated families, is described. 19523171

2009
dbSNP: rs759763964
rs759763964
CDKN2A
0.010 GeneticVariation BEFREE We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 mutations (V126D-p16 and R87P-p16) with the gene expression profile of SFs from age-matched individuals without p16 mutations and with no family history of melanoma. 23371019

2013
dbSNP: rs771138120
rs771138120
CDKN2A
0.010 GeneticVariation BEFREE This mutation (replacement of Arg24 by Cys) was first found in patients with hereditary melanoma and renders Cdk4 insensitive to INK4 inhibitors. 11726500

2001
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. 10869234

2000
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma. 21801156

2011
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136

2010
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR INK4/ARF germline alterations in pancreatic cancer patients. 14679123

2004
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families. 11807902

2002
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR Familial melanoma, pancreatic cancer and germline CDKN2A mutations. 15146471

2004
dbSNP: rs104894109
rs104894109
CDKN2A
A 0.700 CausalMutation CLINVAR Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family. 22841127

2012
dbSNP: rs104894109
rs104894109
CDKN2A
A 0.700 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
dbSNP: rs104894109
rs104894109
CDKN2A
A 0.700 CausalMutation CLINVAR Influence of genes, nevi, and sun sensitivity on melanoma risk in a family sample unselected by family history and in melanoma-prone families. 15150307

2004
dbSNP: rs104894109
rs104894109
CDKN2A
A 0.700 CausalMutation CLINVAR CDKN2A mutations in multiple primary melanomas. 9516223

1998
dbSNP: rs104894109
rs104894109
CDKN2A
A 0.700 CausalMutation CLINVAR Genetic susceptibility in familial melanoma from northeastern Italy. 15235029

2004
dbSNP: rs104894109
rs104894109
CDKN2A
A 0.700 CausalMutation CLINVAR New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment. 17492760

2007
dbSNP: rs104894109
rs104894109
CDKN2A
A 0.700 CausalMutation CLINVAR Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. 9425228

1998
dbSNP: rs104894109
rs104894109
CDKN2A
A 0.700 CausalMutation CLINVAR A short acidic motif in ARF guards against mitochondrial dysfunction and melanoma susceptibility. 25370744

2014
dbSNP: rs104894109
rs104894109
CDKN2A
A 0.700 CausalMutation CLINVAR Geographical variation in the penetrance of CDKN2A mutations for melanoma. 12072543

2002
dbSNP: rs104894109
rs104894109
CDKN2A
A 0.700 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136

2010
dbSNP: rs121913387
rs121913387
CDKN2A
A 0.700 CausalMutation CLINVAR A short acidic motif in ARF guards against mitochondrial dysfunction and melanoma susceptibility. 25370744

2014