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Article

APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'.

Human molecular genetics - 1 Jan 2007

Latchford Andrew, Volikos Emmanouil, Johnson Victoria, Rogers Pauline, Suraweera Nirosha, Tomlinson Ian, Phillips Robin, Silver Andrew

Abstract excerpt

Analysis of APC mutations in colonic and duodenal tumours from familial adenomatous polyposis (FAP) patients has shown that the site of the first hit, the germline mutation, can predict the type and position of the somatic mutation or 'second hit'. The two APC mutations are selected on the basis of a 'just right' level of beta-catenin signalling in intestinal tumours achieved through retention of some of the...

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Share to Adenomatous Polyposis Coli
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17135276
DOI: 10.1093/hmg/ddl442

Genes

FAP
APC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'.PMID 17135276Read ↗

Desmoid Tumors in Familial Adenomatous PolyposisSemantic proximity Read ↗

The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.Semantic proximity Read ↗

A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor.Semantic proximity Read ↗

Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation.Semantic proximity Read ↗

Desmoid tumors complicating Familial Adenomatous Polyposis: a meta-analysis mutation spectrum of affected individuals.Semantic proximity Read ↗

3' Mutation of the APC gene and family history of FAP in a patient with apparently sporadic desmoid tumors.Semantic proximity Read ↗

Desmoid tumour biology in patients with familial adenomatous polyposis coli.Semantic proximity Read ↗

Difference in characteristics of APC mutations between colonic and extracolonic tumors of FAP patients: variations with phenotype.Semantic proximity Read ↗

Characterization of two novel adenomatous polyposis coli (APC) gene mutations in patients with familial adenomatous polyposis (FAP).Semantic proximity Read ↗

APC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposis.Semantic proximity Read ↗

Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours.Semantic proximity Read ↗

The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the beta-catenin signaling cascade.Semantic proximity Read ↗

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