Germline APC Mutation Spectrum Derived from 863 Genomic Variations Identified Through a 15-Year Medical Genetics Service to French Patients with FAP | oneFAPvoice

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Germline APC Mutation Spectrum Derived from 863 Genomic Variations Identified Through a 15-Year Medical Genetics Service to French Patients with FAP

key information

source: Journal of medical genetics

year: 2010

authors: Lagarde A, Rouleau E, Ferrari A, Noguchi T, Qiu J, Briaux A, Bourdon V, Rémy V, Gaildrat P, Adélaïde J, Birnbaum D, Lidereau R, Sobol H, Olschwang S

summary/abstract:

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 863 independent alterations in the French population.

organisation: Centre de Recherche en Cancérologie de Marseille

DOI: 10.1136/jmg.2010.078964

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