title: A survey of APC mutations in Quebec.
abstract: This is an 11-year survey of molecular analysis of APC germline mutations for the province of Quebec done at the Molecular Pathology Unit of the Jewish General Hospital which offers genetic testing for hereditary forms of colorectal cancer for the whole of Quebec province. We report on 47 unique mutations seen in 66 families affected with familial adenomatous polyposis. Of these unique mutations, 60% are short indels, 28% are point mutations, and 6% are whole exon deletions. The absence of founder mutations and the variety of mutations encountered reinforce the value of RNA-based testing and the need for gene dosage techniques such as multiplex ligation-dependent probe amplification.
authors.affiliation: Molecular Pathology Unit, Department of Pathology, Jewish General Hospital, McGill University, Room D-112, 3755, chemin de la Cote-Ste-Catherine, Montreal, QC H3T 1E2, Canada.
authors.forename: Jonathan
authors.initials: J
authors.lastname: Jarry
authors.forename: Jean-Sébastien
authors.initials: JS
authors.lastname: Brunet
authors.forename: Rachel
authors.initials: R
authors.lastname: Laframboise
authors.forename: Régen
authors.initials: R
authors.lastname: Drouin
authors.forename: Jean
authors.initials: J
authors.lastname: Latreille
authors.forename: Carole
authors.initials: C
authors.lastname: Richard
authors.forename: Jean
authors.initials: J
authors.lastname: Gekas
authors.forename: Bruno
authors.initials: B
authors.lastname: Maranda
authors.forename: Yury
authors.initials: Y
authors.lastname: Monczak
authors.forename: Nora
authors.initials: N
authors.lastname: Wong
authors.forename: Carly
authors.initials: C
authors.lastname: Pouchet
authors.forename: Sonya
authors.initials: S
authors.lastname: Zaor
authors.forename: Lidia
authors.initials: L
authors.lastname: Kasprzak
authors.forename: Laura
authors.initials: L
authors.lastname: Palma
authors.forename: Mona Kay
authors.initials: MK
authors.lastname: Wu
authors.forename: Marc
authors.initials: M
authors.lastname: Tischkowitz
authors.forename: William D
authors.initials: WD
authors.lastname: Foulkes
authors.forename: George
authors.initials: G
authors.lastname: Chong
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D017491:Genes, APC; D005820:Genetic Testing / Q000379:methods; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D017354:Point Mutation; D011792:Quebec; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion