title: Genetics of melanoma susceptibility.
abstract: Both genetic and environmental factors confer a significantly increased risk for cutaneous melanoma. This review discusses hereditary predisposition to the disease, focusing on the high-penetrance candidate genes INK4A/ARF and CDK4, and on pathogenetic mechanisms of mutations in those genes. As known mutations account for approximately 25 to 40% of melanoma families reported to date, it is clear that other melanoma genes and other mechanisms underlying predisposition remain to be discovered. Low penetrance susceptibility genes such as melanocortin 1 receptor and their modifying effect, also in concert with UV radiation, are likely to be implicated. Recent reports on a new candidate locus on chromosome 1p22 and somatic mutations in genes of the RAS-RAF-ERK signalling pathway raise interesting questions for further investigation.
authors.affiliation: Department of Oncology, Biology and Genetics, University of Genova, Viale Benedetto XV, 6 - 16132 Genova, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Ghiorzo
authors.forename: Giovanna Bianchi
authors.initials: GB
authors.lastname: Scarrà
mesh_terms: D018844:Cyclin-Dependent Kinases / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*
chemical_list: D011518:Proto-Oncogene Proteins; D018844:Cyclin-Dependent Kinases