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Human Molecular Genetics 2008 17(R2):R109-R115; doi:10.1093/hmg/ddn287
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© The Author 2008. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

This article appears in the following Human Molecular Genetics issue: Association Studies [View the issue table of contents]

Genome-wide association studies in cancer

Douglas F. Easton1,* and Rosalind A. Eeles2,3,4

1 Cancer Research UK Genetic Epidemiology Unit, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge CB1 8RN, UK 2 Translational Cancer Genetics Team, The Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK 3 The Royal Marsden NHS Foundation Trust, Downs Road, Sutton, Surrey SM2 5PT, UK 4 The Royal Marsden NHS Foundation Trust, Fulham Road, London SW3 6JJ, UK

* To whom correspondence should be addressed. Tel: +44 1223740160; Fax: +44 1223740159; Email:douglas{at}srl.cam.ac.uk

Received August 27, 2008; Accepted September 7, 2008

Genome-wide association studies (GWAS) provide a powerful approach to identify common, low-penetrance disease loci without prior knowledge of location or function. GWAS have been conducted in five of the commonest cancer types: breast, prostate, colorectal and lung, and melanoma, and have identified more than 20 novel disease loci, confirming that susceptibility to these diseases is polygenic. Many of these loci were detected at low power, indicating that many further loci will probably be detected with larger studies. For the most part, the loci were not previously suspected to be related to carcinogenesis, and point to new disease mechanisms. The risks conferred by the susceptibility alleles are low, generally 1.3-fold or less. The combined effects may, however, be sufficiently large to be useful for risk prediction, and targeted screening and prevention, particularly as more loci are identified.


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