Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer

Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer

The genetic factors that predispose individuals to familial colorectal cancer are poorly understood. In this study, the authors use whole exome sequencing of 1,006 patients and 1,609 healthy controls and show it is unlikely that further major high-penetrance susceptibility genes exist.

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Bibliographic Details
Main Authors: Daniel Chubb, Peter Broderick, Sara E. Dobbins, Matthew Frampton, Ben Kinnersley, Steven Penegar, Amy Price, Yussanne P. Ma, Amy L. Sherborne, Claire Palles, Maria N. Timofeeva, D. Timothy Bishop, Malcolm G. Dunlop, Ian Tomlinson, Richard S. Houlston
Format: article
Language:EN
Published: Nature Portfolio 2016
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Science
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Online Access:https://doaj.org/article/e2b4dbffd79c4f4bb08a292cf7a6a38b
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Summary:The genetic factors that predispose individuals to familial colorectal cancer are poorly understood. In this study, the authors use whole exome sequencing of 1,006 patients and 1,609 healthy controls and show it is unlikely that further major high-penetrance susceptibility genes exist.

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