Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation

N J H Sturt, M.C. Gallagher, P. Bassett, C.R. Philp, F.K. Neale, Ian Tomlinson, A.R. Silver, R.K. Phillips

Research output: Contribution to journalArticlepeer-review

Abstract

BACKGROUND:
Many patients with familial adenomatous polyposis (FAP) die from desmoid tumours which can arise spontaneously but often appear to be surgically induced by prophylactic colectomy. FAP results from germline adenomatous polyposis coli (APC) gene mutations and desmoids arise following biallelic APC mutation, with one change usually occurring distal to the second beta-catenin binding/degradation repeat of the gene (3' to codon 1399). We have suggested that because families with germline mutations in this region already have the requisite change, they are more likely to develop desmoids. However, there are families with 5' germline mutations where desmoids are common.
Original languageEnglish
Pages (from-to)1832-1836
JournalGut
Volume53
Issue number12
DOIs
Publication statusPublished - 1 Dec 2004

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