Nature Communications (Jun 2016)

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

  • 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

DOI
https://doi.org/10.1038/ncomms11883
Journal volume & issue
Vol. 7, no. 1
pp. 1 – 7

Abstract

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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.