Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.
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.
Lagarde
Arnaud
A
Centre de Recherche en Cancérologie de Marseille INSERM UMR891, Marseille, France.
Rouleau
Etienne
E
Ferrari
Anthony
A
Noguchi
Tetsuro
T
Qiu
Jinghua
J
Briaux
Adrien
A
Bourdon
Violaine
V
Rémy
Virginie
V
Gaildrat
Pascaline
P
Adélaïde
José
J
Birnbaum
Daniel
D
Lidereau
Rosette
R
Sobol
Hagay
H
Olschwang
Sylviane
S
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
D025601:Adenomatous Polyposis Coli Protein