Colorectal cancer

Harry Campbell, Steven Hawken, Evropi Theodoratou, Alex Demarsh, Kimberley Hutchings, Candice Y. Johnson, Lindsey Masson, Linda Sharp, Valerie Tait and Julian Little

in Human Genome Epidemiology, 2nd Edition

Published in print December 2009 | ISBN: 9780195398441
Published online May 2010 | e-ISBN: 9780199776023 | DOI:
 							Colorectal cancer

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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

Chapter.  11518 words. 

Subjects: Public Health and Epidemiology

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