title: Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?
abstract: We report the cases of two familial adenomatous polyposis (FAP) families who presented with the same 2 base pair deletion (AG) at codon 1465 of the adenomatous polyposis coli (APC) gene, but showed phenotypic variability. The mutation was revealed by a simple nonradioactive method using a heteroduplex analysis and identified by a sequence analysis. This observation suggests the responsibility of modifier genes in FAP patients' phenotype.
authors.affiliation: Service de Génétique Clinique, Hospices Civils de Lyon, Hôtel Dieu, 69288 Lyon cedex 02, France. henri.plauchu@chu-lyon.fr
authors.forename: T
authors.initials: T
authors.lastname: Martin-Denavit
authors.forename: S
authors.initials: S
authors.lastname: Duthel
authors.forename: S
authors.initials: S
authors.lastname: Giraud
authors.forename: S
authors.initials: S
authors.lastname: Olschwang
authors.forename: J C
authors.initials: JC
authors.lastname: Saurin
authors.forename: H
authors.initials: H
authors.lastname: Plauchu
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics* / Q000473:pathology; D025601:Adenomatous Polyposis Coli Protein; D001483:Base Sequence; D003062:Codon / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D014644:Genetic Variation; D018095:Germ-Line Mutation; D006801:Humans; D010375:Pedigree; D010641:Phenotype; D017384:Sequence Deletion
chemical_list: D025601:Adenomatous Polyposis Coli Protein; D003062:Codon; D003598:Cytoskeletal Proteins; D004247:DNA