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Human Genome Epidemiology, 2nd EditionBuilding the evidence for using genetic information to improve health and prevent disease$
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Muin Khoury, Sara Bedrosian, Marta Gwinn, Julian Higgins, John Ioannidis, and Julian Little

Print publication date: 2009

Print ISBN-13: 9780195398441

Published to Oxford Scholarship Online: May 2010

DOI: 10.1093/acprof:oso/9780195398441.001.0001

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PRINTED FROM OXFORD SCHOLARSHIP ONLINE (www.oxfordscholarship.com). (c) Copyright Oxford University Press, 2020. All Rights Reserved. An individual user may print out a PDF of a single chapter of a monograph in OSO for personal use. date: 24 May 2020

Colorectal cancer

Colorectal cancer

(p.249) 13 Colorectal cancer
Human Genome Epidemiology, 2nd Edition

Harry Campbell

Steven Hawken

Evropi Theodoratou

Alex Demarsh

Kimberley Hutchings

Candice Y. Johnson

Lindsey Masson

Linda Sharp

Valerie Tait

Julian Little

Oxford University Press

Inherited genetic factors play an important role in the etiology of colorectal cancer. Rare high-penetrance mutations account for a small proportion of diseases but their identification plays an important role in the clinical management of the high-risk families in which these mutations segregate. The results of most candidate gene association studies of colorectal cancer have not been replicated consistently. Many results can be considered false positives; others may represent very small effects, which will require replication in larger studies before firm conclusions can be reached. This chapter reviews recent, genome-wide association studies that have discovered many common, low-penetrance genetic variants associated with risk of colorectal cancer.

Keywords:   colon cancer, genetic variants, genetic variations, human disease, genome-wide studies

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