Gene: CDKN2A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894097
rs104894097
CDKN2A
G 0.750 CausalMutation CLINVAR

dbSNP: rs1064794292
rs1064794292
CDKN2A
0.710 GeneticVariation UNIPROT

dbSNP: rs36204594
rs36204594
CDKN2A
0.700 GeneticVariation UNIPROT

dbSNP: rs104894097
rs104894097
CDKN2A
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: rs34886500
rs34886500
CDKN2A
0.010 GeneticVariation BEFREE Nucleotide-sequence analysis identified a single point mutation leading to a substitution of leucine for proline in codon 48 of exon 1 in a family with a history of melanoma and several other cancers. 9168184

1997
dbSNP: rs771138120
rs771138120
CDKN2A
0.070 GeneticVariation BEFREE The recent discovery of a common missense mutation (Arg24Cys) in both sporadic and familial forms of malignant melanoma strongly supports the candidacy of CDK4 as a proto-oncogene. 9311594

1997
dbSNP: rs104894095
rs104894095
CDKN2A
0.060 GeneticVariation BEFREE In binding assays the protein expressed from the previously described mutation, Met53Ile, did not bind to CDK4/CDK6, confirming its role as a causal mutation in the development of melanoma. 9328469

1997
dbSNP: rs1554653960
rs1554653960
CDKN2A
0.010 GeneticVariation BEFREE We have identified two novel CDKN2 mutations (88delG and Ala118Thr) which are likely to be associated with the development of melanoma, because of their co-segregation with the disease and their likely functional effect on the CDKN2 protein. 9328469

1997
dbSNP: rs104894097
rs104894097
CDKN2A
0.750 GeneticVariation BEFREE This mutation, Arg24Pro, has previously been identified in a melanoma kindred. 9334810

1997
dbSNP: rs771138120
rs771138120
CDKN2A
0.070 GeneticVariation BEFREE In the case of CDK4, only one specific mutation, resulting in the substitution of a cysteine for an arginine at codon 24 (R24C), has been found to be associated with melanoma. 9416844

1997
dbSNP: rs104894097
rs104894097
CDKN2A
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: rs104894095
rs104894095
CDKN2A
0.060 GeneticVariation BEFREE One multiple primary melanoma patient also has the Met 53 Ile mutation and a second has a G-T substitution at the IVS2 + 1 splice donor site. 9699728

1998
dbSNP: rs104894094
rs104894094
CDKN2A
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: rs104894098
rs104894098
CDKN2A
0.050 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: rs559848002
rs559848002
CDKN2A
0.020 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: rs759763964
rs759763964
CDKN2A
0.020 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: rs878853647
rs878853647
CDKN2A
0.020 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: rs11552823
rs11552823
CDKN2A
0.010 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
CDKN2A
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: rs104894095
rs104894095
CDKN2A
0.060 GeneticVariation BEFREE Among a group of 49 patients, we detected 1 (2%; 95% confidence interval, 0.07%-10.8%) Met 53 Ile CDKN2A mutation, which was found in a patient with a strong family history of melanoma. 10987867

2000
dbSNP: rs771138120
rs771138120
CDKN2A
0.070 GeneticVariation BEFREE As the pivotal residues around the most predominant R24C activating CDK4 mutation are invariant between CDK2 and CDK4, we speculated that the pivotal arginine (position 22 in CDK2), or a nearby residue, may be mutated in some melanomas, resulting in the diminution of its binding and inhibition by p27KIP1 or p21CIP1. 11479422

2001
dbSNP: rs104894097
rs104894097
CDKN2A
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: rs104894095
rs104894095
CDKN2A
0.060 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: rs104894098
rs104894098
CDKN2A
0.050 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