title: CDKN2A as a uveal and cutaneous melanoma susceptibility gene.
abstract: A few families have been described whose members are affected by either cutaneous melanoma (CM) or uveal melanoma (UM), suggesting that a common susceptibility could exist. Although CDKN2A is the main CM predisposing gene, thus far no germline CDKN2A mutations have been described in families with both CM and UM. We report a Gly67Ser missense CDKN2A germline mutation in a melanoma-prone family, where one carrier was affected by UM and the other by a CM. Immunohistochemistry performed on the UM tissue block revealed loss of CDKN2A protein staining in tumor cells. These observations demonstrate that CDKN2A is also a UM susceptibility gene.
mesh_terms: D000328:Adult; D000818:Animals; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics; D005260:Female; D019942:Genes, p16; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics*; D051379:Mice; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics*; D014604:Uveal Neoplasms / Q000235:genetics*
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16