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.

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:English
Published: Nature Publishing Group 2016-06-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/ncomms11883
Description
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.
ISSN:2041-1723