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Article

Influence of loss of function MC1R variants in genetic susceptibility of familial melanoma in Spain.

Melanoma research - 1 Aug 2010

de Torre Carlos, Garcia-Casado Zaida, Martínez-Escribano Jorge A, Botella-Estrada Rafael, Bañuls Jose, Oliver Vicente, Mercader Pedro, Azaña Jose M, Frias Javier, Nagore Eduardo

Abstract excerpt

We explored the presence of germline alterations in CDK4 exon 2, CDKN2A and MC1R in a hospital-based study of 89 melanoma cases from 89 families with at least two members affected by cutaneous melanoma. A total of 30% of the melanoma kindreds studied were carriers of CDKN2A variants, and three of these variants were known predominant alleles that have been identified earlier in Mediterranean populations (p.G101W,...

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Identifiers

PMID: 20539244
DOI: 10.1097/CMR.0b013e32833b159d

Genes

CDK4

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