Article
Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.
Familial cancer - 1 Jan 2016
Papp Janos, Kovacs Marietta Eva, Matrai Zoltan, Orosz Enikő, Kásler Miklós, Børresen-Dale Anne-Lise, Olah Edith
Abstract excerpt
Familial adenomatous polyposis (FAP) is a colorectal cancer predisposition syndrome with considerable genetic and phenotypic heterogeneity, defined by the development of multiple adenomas throughout the colorectum. FAP is caused either by monoallelic mutations in the adenomatous polyposis coli gene APC, or by biallelic germline mutations of MUTYH, this latter usually presenting with milder phenotype. The aim of...
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