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Journal article

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

Abstract:

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 additional sequencing and array data on up to 5,552 cases and 6,792 controls. We iden...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1038/ncomms11883

Authors


Broderick, P More by this author
Dobbins, SE More by this author
Frampton, M More by this author
Kinnersley, B More by this author
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Sir John Fisher Foundation More from this funder
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Publisher:
Nature Publishing Group Publisher's website
Journal:
Nature Communications Journal website
Volume:
7
Pages:
11883
Publication date:
2016-06-05
Acceptance date:
2016-05-09
DOI:
EISSN:
2041-1723
Pubs id:
pubs:631009
URN:
uri:eb15da7f-37ba-4b05-8e40-2b0086a1d555
UUID:
uuid:eb15da7f-37ba-4b05-8e40-2b0086a1d555
Local pid:
pubs:631009
Language:
English
Keywords:

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