Ocular melanoma is not associated with CDKN2A or MC1R variants--a population-based study
Type
ArticleAuthor/s
Vajdic CKricker A
Duffy DL
Aitken JF
Stark M
ter Huurne JA
Martin NG
Armstrong BK
Hayward NK
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 ...
See moreGermline 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
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See moreGermline 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
See less
Date
20032003
Publisher
Melanoma ResearchSubjects
AgedGenetics,Population
Germ-Line Mutation
Humans
Melanoma
Middle Aged
Mutation
Polymorphism,Genetic
Prevalence
Receptor,Melanocortin,Type 1
Research
Australia
Research Support,Non-U.S.Gov't
Research Support,U.S.Gov't,P.H.S.
Risk
Case-Control Studies
Chi-Square Distribution
DNA,Neoplasm
epidemiology
Eye Neoplasms
Genes,p16
genetics
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