Annotation Detail
Information
- Associated Genes
- CDKN2A
- Associated Variants
-
CDKN2A MUTATION
CDKN2A MUTATION - Associated Disease
- pancreatic carcinoma
- Source Database
- DisGeNET
- Description
- To verify the S305N association with melanoma risk in an independent larger French population (378 patients, 389 controls); to investigate the role of EDNRB variants in melanoma risk in an Italian population (133 patients, 118 controls); and to explore the association of CDKN2A or CDK4 mutations with the S305N EDNRB variant in a subgroup of patients (59 French, 12 Italian) with a suspected hereditary predisposition to melanoma (familial melanoma, sporadic multiple primary melanoma or melanoma associated with pancreatic cancer).
- Pubmed
- 21507037
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0279585128242712
- Year of publication
- 2011
Drugs