Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK

AE Cust; M Harland; E Makalic; D Schmidt; JG Dowty; JF Aitken; C Agha-Hamilton; BK Armstrong; JH Barrett; M Chan; YM Chang; J Gascoyne; GG Giles; EA Holland; RF Kefford; K Kukalizch; J Lowery; JA Randerson-Moor; H Schmid; CF Taylor; L Whitaker; JL Hopper; JA Newton-Bishop; GJ Mann; DT Bishop; MA Jenkins

Journal article

Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK

AE Cust, M Harland, E Makalic, D Schmidt, JG Dowty, JF Aitken, C Agha-Hamilton, BK Armstrong, JH Barrett, M Chan, YM Chang, J Gascoyne, GG Giles, EA Holland, RF Kefford, K Kukalizch, J Lowery, JA Randerson-Moor, H Schmid, CF Taylor Show all

Journal of Medical Genetics | B M J PUBLISHING GROUP | Published : 2011

DOI: 10.1136/jmg.2010.086538

Abstract

Background CDKN2A mutations confer a substantial risk of cutaneous melanoma; however, the magnitude of risk is uncertain. Methods The study estimated the hazard ratio (HR) and the average age specific cumulative risk (ie, penetrance) of reported melanoma for CDKN2A mutation carriers in case families using a modified segregation analysis of the first and higher degree relatives of 35 populationbased cases. The study sample included 223 relatives of 13 melanoma cases diagnosed when aged 18e39 years from Melbourne, Sydney and Brisbane, Australia, and 322 relatives of 22 melanoma cases diagnosed at any age from Yorkshire, UK. Results The estimated HR for melanoma for mutation carriers relative t..

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University of Melbourne Researchers

Enes Makalic Author

Daniel Schmidt Author Melbourne School of Population and Global Health

James Dowty Author

Graham Giles Author

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Grants

Awarded by National Cancer Institute

Funding Acknowledgements

The Australian Melanoma Family Study received funding from the National Health and Medical Research Council of Australia (NHMRC) (project grants 107359, 211172, 566946 and Program Grant 402761 to GJM and RFK); project grants from the Cancer Councils New South Wales (77/00, 06/10), Victoria and Queensland (371); and the US National Institutes of Health (via R01 grant CA-83115-01A2 to the international Melanoma Genetics Consortium (GenoMEL)). AEC is the recipient of an NHMRC public health postdoctoral fellowship (520018) and received a Victorian Cancer Agency Early Career Seed Grant (ECSG07_010). BKA's research was supported by a University of Sydney Medical Foundation Program Grant and JLH is an Australia Fellow of the NHMRC. This research was funded in part by Cancer Research UK (C588/A4994, C588/A10589 C8216/A6129) and by the National Institute of Health (CA83115). UK study recruitment was facilitated by the UK National Cancer Research Network.