Inherited predisposition to colorectal cancer: towards a more complete picture

Short, Emma, Thomas, Laura E. ORCID: https://orcid.org/0000-0002-8621-5285, Hurley, Joanna, Jose, Sian and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2015. Inherited predisposition to colorectal cancer: towards a more complete picture. Journal of Medical Genetics 52 , pp. 791-796. 10.1136/jmedgenet-2015-103298

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Abstract

Colorectal carcinoma (CRC) is the third most common cancer worldwide. Hereditary factors are important in 15%–35% of affected patients. This review provides an update on the genetic basis of inherited predisposition to CRC. Currently known genetic factors include a group of highly penetrant mutant genes associated with rare mendelian cancer syndromes and a group of common low-penetrance alleles that have been identified through genetic association studies. Additional mechanisms, which may underlie a predisposition to CRC, will be outlined, for example, variants in intermediate penetrance alleles. Recent findings, including mutations in POLE, POLD1 and NTHL1, will be highlighted, and we identify gaps in present knowledge and consider how these may be addressed through current and emerging genomic approaches. It is expected that identification of the missing heritable component of CRC will be resolved through evermore comprehensive cataloguing and phenotypic annotation of CRC-associated variants identified through sequencing approaches. This will have important clinical implications, particularly in areas such as risk stratification, public health and CRC prevention.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer)
Publisher:	BMJ Publishing Group
ISSN:	0022-2593
Date of First Compliant Deposit:	30 March 2016
Date of Acceptance:	28 July 2015
Last Modified:	06 Jan 2024 03:15
URI:	https://orca.cardiff.ac.uk/id/eprint/77302

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