title: Genetics in melanoma.
abstract: Melanoma is the leading cause of death from skin tumors worldwide, with an annual increase in incidence over the past decade. The molecular mechanisms involved in melanoma pathogenesis are beginning to be unraveled. While a family history of melanoma and exposure to ultraviolet irradiation have been known for years as risk factors in melanoma development, the precise genes involved in inherited predisposition were defined only in the past decade. Germline mutations in two genes that play a pivotal role in controlling cell cycle and division--CDKN2A and cyclin-dependent kinase 4 (CDK4)--have been detected in autosomal, dominant, high penetrance familial melanoma cases. In addition to these two highly penetrant genes, germline mutations and polymorphisms in a few low penetrance genes have been reported in familial melanoma cases: melanocortin-1 receptor, epidermal growth factor, glutathione s-transferase M1, cytochrome p450 debrisoquine hydroxylase locus (CYP2D6) and vitamin D receptor.
authors.affiliation: Department of Plastic and Reconstructive Surgery, Sheba Medical Center, Tel Hashomer, Israel.
authors.forename: Shy
authors.initials: S
authors.lastname: Stahl
authors.forename: Eran
authors.initials: E
authors.lastname: Bar-Meir
authors.forename: Eitan
authors.initials: E
authors.lastname: Friedman
authors.forename: Eli
authors.initials: E
authors.lastname: Regev
authors.forename: Arie
authors.initials: A
authors.lastname: Orenstein
authors.forename: Eyal
authors.initials: E
authors.lastname: Winkler
mesh_terms: D019389:Cytochrome P-450 CYP2D6 / Q000235:genetics; D004815:Epidermal Growth Factor / Q000235:genetics; D019942:Genes, p16; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005982:Glutathione Transferase / Q000235:genetics; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D019683:Penetrance; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics; D018167:Receptors, Calcitriol / Q000235:genetics
chemical_list: D019389:Cytochrome P-450 CYP2D6; D004815:Epidermal Growth Factor; D005982:Glutathione Transferase; D044102:Receptor, Melanocortin, Type 1; D018167:Receptors, Calcitriol