Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

The role of inherited genetic variants in colorectal polyposis syndromes

Short, E. and Sampson, J. 2019. The role of inherited genetic variants in colorectal polyposis syndromes. Advances in Genetics 103 , pp. 183-217. 10.1016/bs.adgen.2018.11.002

Full text not available from this repository.

Abstract

Colorectal carcinoma (CRC) is the third most common cancer in men and the second most common cancer in women across the world. Most CRCs occur sporadically, but in 15–35% of cases, hereditary factors are important. Some patients with an inherited predisposition to CRC will be diagnosed with a “genetic polyposis syndrome” such as familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), polymerase proofreading associated polyposis (PPAP), NTHL1-associated polyposis, MSH3-associated polyposis or a hamartomatous polyposis syndrome. Individuals with ≥ 10 colorectal polyps have traditionally been referred for genetic diagnostic testing to identify APC and MUTYH mutations which cause FAP and MAP respectively. Mutations are found in most patients with > 100 adenomas but in only a minority of those with 10–100 adenomas. The reasons that diagnostic laboratories are not identifying pathogenic variants include mutations occurring outside of the open reading frames of genes, individuals exhibiting generalized mosaicism and the involvement of additional genes. It is important to identify patients with an inherited polyposis syndrome, and to define the mutations causing their polyposis, so that the individuals and their relatives can be managed appropriately.

Item Type: Article
Date Type: Published Online
Status: Published
Schools: Medicine
Publisher: Elsevier
ISSN: 0065-2660
Date of First Compliant Deposit: 21 November 2019
Date of Acceptance: 22 January 2019
Last Modified: 31 Jan 2020 22:46
URI: http://orca.cf.ac.uk/id/eprint/127015

Citation Data

Cited 2 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item