title: The genetic basis of uveal melanoma.
abstract: Uveal melanoma (UM) is the most common intraocular malignancy in adults with an incidence of about 1/100,000 new cases per year in the Western world. Risk factors are having a light skin, blond hair and blue eyes. As some UM patients have a young age at diagnosis or an affected family history for UM or other malignancies, there may be an underlying genetic basis. This review discusses known or suspected risk factors for UM, the cancer risk in UM patients and their family members, and the genes that have been reported to predispose to UM (germline mutations) and tumor development (somatic mutations).
authors.affiliation: Department of clinical genetics, Building 1, K5-R, LUMC, P.O. Box 9600, 2300 RC, Leiden, The Netherlands. Electronic address: m.nielsen@lumc.nl.
authors.forename: M
authors.initials: M
authors.lastname: Nielsen
authors.affiliation: Department of ophthalmology, LUMC, P.O. Box 9600, 2300 RC, Leiden, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Dogrusöz
authors.affiliation: Department of ophthalmology, LUMC, P.O. Box 9600, 2300 RC, Leiden, The Netherlands.
authors.forename: J C
authors.initials: JC
authors.lastname: Bleeker
authors.affiliation: Department of clinical genetics, Building 1, K5-R, LUMC, P.O. Box 9600, 2300 RC, Leiden, The Netherlands.
authors.forename: W G
authors.initials: WG
authors.lastname: Kroes
authors.affiliation: Department of clinical genetics, Building 1, K5-R, LUMC, P.O. Box 9600, 2300 RC, Leiden, The Netherlands.
authors.forename: C A
authors.initials: CA
authors.lastname: van Asperen
authors.affiliation: Department of ophthalmology, LUMC, P.O. Box 9600, 2300 RC, Leiden, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Marinkovic
authors.affiliation: Department of ophthalmology, LUMC, P.O. Box 9600, 2300 RC, Leiden, The Netherlands.
authors.forename: G P M
authors.initials: GP
authors.lastname: Luyten
authors.affiliation: Department of ophthalmology, LUMC, P.O. Box 9600, 2300 RC, Leiden, The Netherlands.
authors.forename: M J
authors.initials: MJ
authors.lastname: Jager
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019313:BRCA1 Protein / Q000235:genetics; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D018095:Germ-Line Mutation / Q000235:genetics; D006801:Humans; D008297:Male; D008545:Melanoma / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics* / Q000401:mortality; D008875:Middle Aged; D011379:Prognosis; D012307:Risk Factors; D016019:Survival Analysis; D014604:Uveal Neoplasms / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics* / Q000401:mortality; D000098943:Uveal Melanoma
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human
keywords: BAP1; Cancer risk; Genetic risk factors; Le risque de cancer; Les facteurs de risque génétique; Mélanome uvéal; Uveal melanoma