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Ocular melanoma is not associated with CDKN2A or MC1R variants--a population-based study.
Melanoma Res 2003; 13(4):409-13MR

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+Show Affiliations

National Centre for HIV Epidemiology and Clinical Research, Darlinghurst, NSW, Australia.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

12883368

Citation

Vajdic, C, et al. "Ocular Melanoma Is Not Associated With CDKN2A or MC1R Variants--a Population-based Study." Melanoma Research, vol. 13, no. 4, 2003, pp. 409-13.
Vajdic C, Kricker A, Duffy DL, et al. Ocular melanoma is not associated with CDKN2A or MC1R variants--a population-based study. Melanoma Res. 2003;13(4):409-13.
Vajdic, C., Kricker, A., Duffy, D. L., Aitken, J. F., Stark, M., ter Huurne, J. A., ... Hayward, N. K. (2003). Ocular melanoma is not associated with CDKN2A or MC1R variants--a population-based study. Melanoma Research, 13(4), pp. 409-13.
Vajdic C, et al. Ocular Melanoma Is Not Associated With CDKN2A or MC1R Variants--a Population-based Study. Melanoma Res. 2003;13(4):409-13. PubMed PMID: 12883368.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Ocular melanoma is not associated with CDKN2A or MC1R variants--a population-based study. AU - Vajdic,C, AU - Kricker,A, AU - Duffy,D L, AU - Aitken,J F, AU - Stark,M, AU - ter Huurne,J A C, AU - Martin,N G, AU - Armstrong,B K, AU - Hayward,N K, PY - 2003/7/29/pubmed PY - 2003/12/3/medline PY - 2003/7/29/entrez SP - 409 EP - 13 JF - Melanoma research JO - Melanoma Res. VL - 13 IS - 4 N2 - 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. SN - 0960-8931 UR - https://www.unboundmedicine.com/medline/citation/12883368/Ocular_melanoma_is_not_associated_with_CDKN2A_or_MC1R_variants__a_population_based_study_ L2 - http://dx.doi.org/10.1097/00008390-200308000-00011 DB - PRIME DP - Unbound Medicine ER -