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Ocular melanoma is not associated with CDKN2A or MC1R variants — a population-based study

Vajdic, Ca; Kricker, Ab; Duffy, D Lc; Aitken, J Fd; Stark, Mc; Huurne, J ACtere; Martin, N Gc; Armstrong, B Kf; Hayward, N Kc


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.

aNational Centre for HIV Epidemiology and Clinical Research, Darlinghurst, NSW and The Cancer Council, NSW, Kings Cross, NSW, Australia, bNational Breast Cancer Centre, Camperdown, NSW, Australia, cCancer and Cell Biology Division, Queensland Institute of Medical Research, 300 Herston Rd, Herston, Qld 4029, Australia, dEpidemiology Unit, Queensland Cancer Fund, Spring Hill, Qld, Australia, eDepartments of Dermatology and Human Genetics, Leiden University Medical Center, Leiden, The Netherlands, and fSchool of Public Health, The University of Sydney, NSW and The Cancer Council NSW, Kings Cross, NSW, Australia.

Sponsorship: This work was supported by the National Health and Medical Research Council of Australia, the National Institutes of Health (grant CA88363), the Cancer Council of New South Wales and the Barraba Cancer Patients Support Group.

Correspondence and requests for reprints to N.K. Hayward, Cancer and Cell Biology Division, Queensland Institute of Medical Research, 300 Herston Rd, Herston, Qld 4029, Australia. Tel: 61-7-33620306; fax: 61-7-38453508; e-mail:

Received 22 August 2002 Accepted 5 February 2003

© 2003 Lippincott Williams & Wilkins, Inc.