Journal article
MC1R genotypes and risk of melanoma before age 40 years: A population-based case-control-family study
AE Cust, C Goumas, EA Holland, C Agha-Hamilton, JF Aitken, BK Armstrong, GG Giles, RF Kefford, H Schmid, JL Hopper, GJ Mann, MA Jenkins
International Journal of Cancer | WILEY-BLACKWELL | Published : 2012
DOI: 10.1002/ijc.27357
Abstract
The contribution of melanocortin-1 receptor (MC1R) gene variants to the development of early-onset melanoma is unknown. Using an Australian population-based, case-control-family study, we sequenced MC1R for 565 cases with invasive cutaneous melanoma diagnosed between ages 18 and 39 years, 409 unrelated controls and 518 sibling controls. Variants were classified a priori into "R" variants (D84E, R142H, R151C, I155T, R160W, D294H) and "r" variants (all other nonsynonymous variants). We estimated odds ratios (OR) for melanoma using unconditional (unrelated controls) and conditional (sibling controls) logistic regression. The prevalence of having at least one R or r variant was 86% for cases, 73..
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Awarded by National Cancer Institute
Funding Acknowledgements
Grant sponsor: National Health and Medical Research Council of Australia (NHMRC); Grant numbers: 566946, 107359, 211172, 402761; Grant sponsor: the Cancer Council New South Wales; Grant numbers: 77/00, 06/10; Grant sponsor: the Cancer Council Victoria and the Cancer Council Queensland; Grant number: 371; Grant sponsor: the U.S. National Institutes of Health; Grant number: RO1 CA-83115-01A2; Grant sponsor: NHMRC public health postdoctoral fellowship; Grant number: 520018; Grant sponsor: Cancer Institute NSW Early Career Development Fellowship; Grant number: 10/ECF/2-06; Grant sponsor: This work was supported by the National Health and Medical Research Council of Australia (NHMRC); Grant number: 402761; Grant sponsor: G.J.M. and R. F. K. and the US National Institutes of Health (via RO1 grant CA-83115-01A2 to the international Melanoma Genetics Consortium-GenoMEL).