Article
Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers.
Familial cancer - 1 Oct 2016
Ghorbanoghli Z, Nieuwenhuis M H, Houwing-Duistermaat J J, Jagmohan-Changur S, Hes F J, Tops C M, Wagner A, Aalfs C M, Verhoef S, Gómez García E B, Sijmons R H, Menko F H, Letteboer T G, Hoogerbrugge N, van Wezel T, Vasen H F A, Wijnen J T
Abstract excerpt
Familial adenomatous polyposis (FAP) is a dominantly inherited syndrome caused by germline mutations in the APC gene and characterized by the development of multiple colorectal adenomas and a high risk of developing colorectal cancer (CRC). The severity of polyposis is correlated with the site of the APC mutation. However, there is also phenotypic variability within families with the same underlying APC mutation,...
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