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

• DOI: 10.1097/cmr.0b013e32833b159d
• Publication Date: 2010-06-10T10:47:56Z
• Authors: Carlos de Torre; Zaida Garcia-Casado; Jorge A. Martínez...; Rafael Botella-Es...; Jose Bañuls; Vicente Oliver; Pedro Mercader; Jose M. Azaña; Javier Frias; Eduardo Nagore
• Keywords: Nonsynonymous substitution

We explored the presence of germline alterations in CDK4 exon 2, CDKN2A and MC1R a hospital-based study 89 melanoma cases from families with at least two members affected by cutaneous melanoma. A total 30% kindreds studied were carriers variants, three these variants known predominant alleles that have been identified earlier Mediterranean populations (p.G101W, p.V59G c.358delG). observed higher frequency nonsynonymous Spanish (72%) respect to general population (60%). this kindred new classification based on their functional effects over melanocortin-1 receptor, including dominant-negative effect some them heterozygotes, suggested an association loss function multiple primary (odds ratio: 6.07, 95% confidence interval: 1.35-27.20). This proposes relevance risk family history areas low incidence rate.