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Article

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

Journal of clinical gastroenterology - 1 Mar 2007

Benoit Laurent, Faivre Laurence, Cheynel Nicolas, Ortega-Deballon Pablo, Facy Olivier, Marty Marion, Olschwang Sophie, Fraisse Jean, Cuisenier Jean

Abstract excerpt

Desmoid tumors may occur sporadically or as part of the extraintestinal manifestations of familial adenomatous polyposis. Different phenotypes have been described and some genotype-phenotype correlations have been raised, associated with different sites of germline mutations in the adenomatous polyposis coli (APC) gene. We report on a 42-year-old woman ascertained for a large desmoid tumor of the anterior chest...

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Source

Identifiers

PMID: 17426470
DOI: 10.1097/MCG.0b013e3180325252

Genes

APC
FAP

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.

Related research

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Research trail→

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3' Mutation of the APC gene and family history of FAP in a patient with apparently sporadic desmoid tumors.PMID 17426470Read ↗

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 ↗

Desmoid Tumors in Familial Adenomatous PolyposisSemantic proximity Read ↗

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

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

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

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

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

Comparison of two cases of Familial Adenomatous Polyposis with the same APC genotype and different phenotypes.Semantic proximity Read ↗

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

A Patient With Desmoid Tumors and Familial FAP Having Frame Shift Mutation of the APC Gene.Semantic proximity Read ↗

Chacterisation of desmoids in familial adenomatous polyposisSemantic proximity Read ↗

Phenotype-genotype correlations in an extended family with adenomatosis coli and an unusual APC gene mutation.Semantic proximity Read ↗

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