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Title: Ocular melanoma is not associated with CDKN2A or MC1R variants--a population-based study
Authors: Vajdic C; Kricker A; Duffy DL; Aitken JF; Stark M; ter Huurne JA; Martin NG; Armstrong BK; Hayward NK
Categories: Etiology - Endogenous Factors in the Origin and Cause of Cancer
Cancer Type - Skin Cancer
Keywords: Aged; Genetics,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
Year: 2003
Journal Title: Melanoma Research
Volume: 13
Issue: 4
Page number start: 409
Page number end: 413
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
Programme: Cancer Causes
Division: Cancer Research Division
Appears in Collections:Research Articles

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