title: Ocular melanoma is not associated with CDKN2A or MC1R variants--a population-based study.
abstract: Germline variants in the melanocortin 1 receptor gene (MC1R) and the p16 gene (CDKN2A) are associated with an increased risk of cutaneous melanoma. The frequency of these germline variants was examined in a population-based, incident series of 62 ocular melanoma cases and ethnicity-matched population controls. In both cases and controls, 59% of individuals carried at least one MC1R variant and there were no significant differences in the frequency of any of the five most common variants of MC1R. We also found no significant differences between cases and controls in the frequency of any of the four most common variants of CDKN2A, and no melanoma case carried a deleterious germline CDKN2A mutation. Our findings argue against an important predisposing effect of the MC1R and CDKN2A genes for ocular melanoma.
authors.affiliation: National Centre for HIV Epidemiology and Clinical Research, Darlinghurst, NSW, Australia.
authors.forename: C
authors.initials: C
authors.lastname: Vajdic
authors.forename: A
authors.initials: A
authors.lastname: Kricker
authors.forename: D L
authors.initials: DL
authors.lastname: Duffy
authors.forename: J F
authors.initials: JF
authors.lastname: Aitken
authors.forename: M
authors.initials: M
authors.lastname: Stark
authors.forename: J A C
authors.initials: JA
authors.lastname: ter Huurne
authors.forename: N G
authors.initials: NG
authors.lastname: Martin
authors.forename: B K
authors.initials: BK
authors.lastname: Armstrong
authors.forename: N K
authors.initials: NK
authors.lastname: Hayward
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D004273:DNA, Neoplasm / Q000235:genetics*; D005134:Eye Neoplasms / Q000453:epidemiology / Q000235:genetics*; D019942:Genes, p16; D005828:Genetics, Population; D018095:Germ-Line Mutation / Q000235:genetics; D006801:Humans; D008545:Melanoma / Q000453:epidemiology / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D015995:Prevalence; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm; D044102:Receptor, Melanocortin, Type 1