title: Management of familial melanoma.
abstract: Relatives of patients with melanoma are at increased risk of melanoma. We review the evidence that this risk may be attributed both to shared susceptibility genes (both high-penetrance and lower-penetrance genes) and shared environment. The most frequent high-penetrance susceptibility gene is CDKN2A, and environmental effects on the risk to gene carriers are evident in that CDKN2A penetrance is higher in CDKN2A-mutation-positive families living in Australia than those in Europe. We review the approaches to managing melanoma families, in which the likelihood of there being detectable CDKN2A mutations is positively correlated with the number of cases of melanoma in the family. Within families, risk that an individual carries a germline mutation can be estimated by pedigree analysis for autosomal dominant genes with incomplete penetrance. Prevention advice to families relates to moderation of sun exposure and self-examination of naevi, although there are few supportive data.
authors.affiliation: Genetic Epidemiology Division, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds, UK. j.newton-bishop@cancer.org.uk
authors.forename: Julia Newton
authors.initials: JN
authors.lastname: Bishop
authors.forename: Mark
authors.initials: M
authors.lastname: Harland
authors.forename: Juliette
authors.initials: J
authors.lastname: Randerson-Moor
authors.forename: D Timothy
authors.initials: DT
authors.lastname: Bishop
mesh_terms: D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000628:therapy; D009154:Mutation; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics* / Q000628:therapy
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16