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Article

Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.

Journal of medical genetics - 1 Oct 2010

Lagarde Arnaud, Rouleau Etienne, Ferrari Anthony, Noguchi Tetsuro, Qiu Jinghua, Briaux Adrien, Bourdon Violaine, Rémy Virginie, Gaildrat Pascaline, Adélaïde José, Birnbaum Daniel, Lidereau Rosette, Sobol Hagay, Olschwang Sylviane

Abstract excerpt

Heterozygous APC germline alteration is responsible for familial adenomatous polyposis, a colon cancer predisposition with almost complete penetrance. Point mutations generally lead to truncated proteins or no protein at all. They mainly involve exon 3 to codon 1700 (exon 15). The work presented here delineates precisely the APC mutation spectrum from 15 years of systematic molecular screening which identified...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20685668
DOI: 10.1136/jmg.2010.078964

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.

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