title: Role of MC1R variants in uveal melanoma.
abstract: Variants of the melanocortin-1 receptor (MC1R) gene have been linked to sun-sensitive skin types and hair colour, and may independently play a role in susceptibility to cutaneous melanoma. To assess the role of MC1R variants in uveal melanoma, we have analysed a cohort of 350 patients for the changes within the major region of the gene displaying sequence variation. Eight variants were detected - V60L, D84E, V92M, R151C, I155T, R160W, R163Q and D294H - 63% of these patients being hetero- or homozygous for at least one variant. Standard melanoma risk factor data were available on 119 of the patients. MC1R variants were significantly associated with hair colour (P=0.03) but not skin or eye colour. The frequency of the variants detected in the 350 patients was comparable with those in the general population, and comparison of the cumulative tumour distribution by age at diagnosis in carriers and noncarriers provided no evidence that MC1R variants confer an increased risk of uveal melanoma. We interpret the data as indicating that MC1R variants do not appear to be major determinants of susceptibility to uveal melanoma.
authors: Haddow Laboratories, Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton SM2 5NG, UK.
authors: N
authors: N
authors: Hearle
authors: J
authors: J
authors: Humphreys
authors: B E
authors: BE
authors: Damato
authors: R
authors: R
authors: Wort
authors: R
authors: R
authors: Talaban
authors: J
authors: J
authors: Wixey
authors: H
authors: H
authors: Green
authors: D F
authors: DF
authors: Easton
authors: R S
authors: RS
authors: Houlston
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D015331:Cohort Studies; D017931:DNA Primers; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D018095:Germ-Line Mutation; D006200:Hair Color; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000473:pathology*; D008875:Middle Aged; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics* / Q000502:physiology; D012307:Risk Factors; D014604:Uveal Neoplasms / Q000235:genetics* / Q000473:pathology*
chemical_list: D017931:DNA Primers; D044102:Receptor, Melanocortin, Type 1