title: Genetic alterations of the APC gene in familial adenomatous polyposis patients of the hellenic group for the study of colorectal cancer.
abstract: Familial Adenomatous Polyposis (FAP)-a premalignant clinical entity inherited as an autosomal dominant trait-is characterized by the development of hundreds to thousands of adenomatous polyps of the colorectum during the second and third decade of life. Approximately 80% of the FAP patients harbour truncating germ-line mutations in the APC tumor suppressor gene (Adenomatous Polyposis Coli). We tested 48 members from 9 families. Two novel truncating mutations were identified-2601delGA, R923X--and five already known mutations R564X, R876X, Q1045X, 3927-3931delAAAGA and D1822V were found. Our method for testing was PCR amplification from genomic DNA extracted from whole blood, followed by automated DNA sequencing.
authors.affiliation: Molecular Biology Research Center HYGEIA Antonis Papayiannis, Kifissias Ave. & Erythrou Stavrou 4 Str, GR151-23 Maroussi, Athens, Greece.
authors.forename: M
authors.initials: M
authors.lastname: Mihalatos
authors.forename: A
authors.initials: A
authors.lastname: Apessos
authors.forename: E
authors.initials: E
authors.lastname: Papadopoulou
authors.forename: N J
authors.initials: NJ
authors.lastname: Agnantis
authors.forename: D
authors.initials: D
authors.lastname: Yannoukakos
authors.forename: G
authors.initials: G
authors.lastname: Fountzilas
authors.forename: G
authors.initials: G
authors.lastname: Nasioulas
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D018389:Codon, Nonsense; D016368:Frameshift Mutation; D020868:Gene Silencing; D017491:Genes, APC; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D009154:Mutation
chemical_list: D018389:Codon, Nonsense