title: Genetic predisposition to melanoma.
abstract: Malignant melanoma is a rare, often fatal form of skin cancer with a complex multigenic etiology. The incidence of melanoma is increasing at an alarming rate. A number of heritable factors contribute to a patient's overall melanoma risk, including response to ultraviolet light, nevus number, and pigmentation characteristics, such as eye and hair color. Approximately 5%-10% of melanoma cases are familial, yet the majority of familial cases lack identifiable germ-line mutations in known susceptibility genes. Additionally, most familial melanomas lack germ-line mutations in genes that are commonly mutated in sporadic melanoma. Candidate and systematic genome-wide association studies have led to an improved understanding of the risk factors for melanoma and the identification of susceptibility genes. In this review, we provide an overview of the major risk factors and known genes implicated in familial melanoma susceptibility.
authors.affiliation: Department of Dermatology, University of Utah, Salt Lake City, UT.
authors.forename: Jason E
authors.initials: JE
authors.lastname: Hawkes
authors.affiliation: Department of Dermatology, University of Utah, Salt Lake City, UT.
authors.forename: Amanda
authors.initials: A
authors.lastname: Truong
authors.affiliation: Department of Dermatology, University of Utah, Salt Lake City, UT; Veterans Administration Hospital, Salt Lake City, UT. Electronic address: Laurence.Meyer@hsc.utah.edu.
authors.forename: Laurence J
authors.initials: LJ
authors.lastname: Meyer
mesh_terms: D004260:DNA Repair / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008545:Melanoma / Q000209:etiology / Q000235:genetics*; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics; D012307:Risk Factors; D012878:Skin Neoplasms / Q000235:genetics; D019098:Telomerase / Q000235:genetics; D014604:Uveal Neoplasms / Q000235:genetics
chemical_list: D044102:Receptor, Melanocortin, Type 1; C509186:TERT protein, human; D019098:Telomerase
keywords: Familial; Pigmentation; Telomere; Tumor suppressor