Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. Issue 10 (3rd August 2010)

• Record Type: Journal Article
• 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
• Is Part Of: Journal of medical genetics. Volume 47:Issue 10(2010)
• Page Start: 721
• Page End: 722
• Publication Date: 2010-08-03
• Subjects: APC gene -- germline mutation -- familial adenomatous polyposis -- mutation spectrum -- genomic rearrangements -- genetic screening/counselling -- molecular genetics -- cancer: colon; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.2010.078964
• Languages: English
• ISSNs: 1468-6244

Abstract

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.