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

• Published in: Journal of medical genetics Vol. 47; no. 10; p. 721
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: England 01-10-2010
• Subjects: Adenomatous Polyposis Coli - genetics; Adenomatous Polyposis Coli Protein - genetics; Comparative Genomic Hybridization; DNA Mutational Analysis - methods; France; Genes, APC; Genetic Predisposition to Disease; Genetic Testing; Germ-Line Mutation; Humans; Oligonucleotide Array Sequence Analysis; Point Mutation; Sequence Analysis, DNA; France
• ISSN: 1468-6244
• DOI: 10.1136/jmg.2010.078964

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.