Article
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
Nature communications - 22 Jun 2016
Chubb Daniel, Broderick Peter, Dobbins Sara E, Frampton Matthew, Kinnersley Ben, Penegar Steven, Price Amy, Ma Yussanne P, Sherborne Amy L, Palles Claire, Timofeeva Maria N, Bishop D Timothy, Dunlop Malcolm G, Tomlinson Ian, Houlston Richard S
Abstract excerpt
Colorectal cancer (CRC) displays a complex pattern of inheritance. It is postulated that much of the missing heritability of CRC is enshrined in high-impact rare alleles, which are mechanistically and clinically important. In this study, we assay the impact of rare germline mutations on CRC, analysing high-coverage exome sequencing data on 1,006 early-onset familial CRC cases and 1,609 healthy controls, with...
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