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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-06-22

AUTHORS

Daniel Chubb, Peter Broderick, Sara E. Dobbins, Matthew Frampton, Ben Kinnersley, Steven Penegar, Amy Price, Yussanne P., Amy L. Sherborne, Claire Palles, Maria N. Timofeeva, D. Timothy Bishop, Malcolm G. Dunlop, Ian Tomlinson, Richard S. Houlston

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 identify highly penetrant rare mutations in 16% of familial CRC. Although the majority of these reside in known genes, we identify POT1, POLE2 and MRE11 as candidate CRC genes. We did not identify any coding low-frequency alleles (1-5%) with moderate effect. Our study clarifies the genetic architecture of CRC and probably discounts the existence of further major high-penetrance susceptibility genes, which individually account for >1% of the familial risk. Our results inform future study design and provide a resource for contextualizing the impact of new CRC genes. More... »

PAGES

11883

References to SciGraph publications

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ncomms11883

    DOI

    http://dx.doi.org/10.1038/ncomms11883

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1005369769

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/27329137


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