title: Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.
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.
authors.affiliation: Centre de Recherche en Cancérologie de Marseille INSERM UMR891, Marseille, France.
authors.forename: Arnaud
authors.initials: A
authors.lastname: Lagarde
authors.forename: Etienne
authors.initials: E
authors.lastname: Rouleau
authors.forename: Anthony
authors.initials: A
authors.lastname: Ferrari
authors.forename: Tetsuro
authors.initials: T
authors.lastname: Noguchi
authors.forename: Jinghua
authors.initials: J
authors.lastname: Qiu
authors.forename: Adrien
authors.initials: A
authors.lastname: Briaux
authors.forename: Violaine
authors.initials: V
authors.lastname: Bourdon
authors.forename: Virginie
authors.initials: V
authors.lastname: Rémy
authors.forename: Pascaline
authors.initials: P
authors.lastname: Gaildrat
authors.forename: José
authors.initials: J
authors.lastname: Adélaïde
authors.forename: Daniel
authors.initials: D
authors.lastname: Birnbaum
authors.forename: Rosette
authors.initials: R
authors.lastname: Lidereau
authors.forename: Hagay
authors.initials: H
authors.lastname: Sobol
authors.forename: Sylviane
authors.initials: S
authors.lastname: Olschwang
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004252:DNA Mutational Analysis / Q000379:methods*; D005602:France; D017491:Genes, APC; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D017354:Point Mutation; D017422:Sequence Analysis, DNA
chemical_list: D025601:Adenomatous Polyposis Coli Protein