Document Detail

Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.
MedLine Citation:
PMID:  20685668     Owner:  NLM     Status:  MEDLINE    
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.
Arnaud Lagarde; Etienne Rouleau; Anthony Ferrari; Tetsuro Noguchi; Jinghua Qiu; Adrien Briaux; Violaine Bourdon; Virginie Rémy; Pascaline Gaildrat; José Adélaïde; Daniel Birnbaum; Rosette Lidereau; Hagay Sobol; Sylviane Olschwang
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-08-03
Journal Detail:
Title:  Journal of medical genetics     Volume:  47     ISSN:  1468-6244     ISO Abbreviation:  J. Med. Genet.     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-10-06     Completed Date:  2011-01-28     Revised Date:  2011-03-28    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  721-2     Citation Subset:  IM    
Centre de Recherche en Cancérologie de Marseille INSERM UMR891, Marseille, France.
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MeSH Terms
Adenomatous Polyposis Coli / genetics*
Adenomatous Polyposis Coli Protein / genetics*
Comparative Genomic Hybridization
DNA Mutational Analysis / methods*
Genes, APC
Genetic Predisposition to Disease
Genetic Testing
Germ-Line Mutation*
Oligonucleotide Array Sequence Analysis
Point Mutation
Sequence Analysis, DNA
Reg. No./Substance:
0/Adenomatous Polyposis Coli Protein

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