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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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2016
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/e2b4dbffd79c4f4bb08a292cf7a6a38b
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spelling	oai:doaj.org-article:e2b4dbffd79c4f4bb08a292cf7a6a38b2021-12-02T16:50:55ZRare disruptive mutations and their contribution to the heritable risk of colorectal cancer10.1038/ncomms118832041-1723https://doaj.org/article/e2b4dbffd79c4f4bb08a292cf7a6a38b2016-06-01T00:00:00Zhttps://doi.org/10.1038/ncomms11883https://doaj.org/toc/2041-1723The 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.Daniel ChubbPeter BroderickSara E. DobbinsMatthew FramptonBen KinnersleySteven PenegarAmy PriceYussanne P. MaAmy L. SherborneClaire PallesMaria N. TimofeevaD. Timothy BishopMalcolm G. DunlopIan TomlinsonRichard S. HoulstonNature PortfolioarticleScienceQENNature Communications, Vol 7, Iss 1, Pp 1-7 (2016)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer
description	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.
format	article
author	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
author_facet	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
author_sort	Daniel Chubb
title	Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer
title_short	Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer
title_full	Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer
title_fullStr	Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer
title_full_unstemmed	Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer
title_sort	rare disruptive mutations and their contribution to the heritable risk of colorectal cancer
publisher	Nature Portfolio
publishDate	2016
url	https://doaj.org/article/e2b4dbffd79c4f4bb08a292cf7a6a38b
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Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer

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