title: APC germline mutations identified in Czech patients with familial adenomatous polyposis.
abstract: Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited predisposition to colorectal cancer, which is caused by germline mutations in the adenomatous polyposis coli (APC) gene. The APC mutations have been investigated in 46 Czech unrelated FAP families and 9 suspected FAP families using DGGE analysis and direct DNA sequencing. We found 25 germline APC mutations and identified 11 which were not previously reported. Of the identified mutations, 10 were 1 to 5 bp deletions, four were 1 bp insertions and six were nonsense, all leading to the formation of premature stop codon. In addition, we detected two mutations in the splice-donor region of APC intron 11, one missense and two samesense mutations. Phenotypes of patients with known and novel types of mutations are presented and discussed.
authors.affiliation: Institute of Biology and Medical Genetics, 1st Faculty of Medicine, Charles University, General Teaching Hospital, Prague, Czech Republic, mkoho@lf1.cuni.cz.
authors.forename: Milada
authors.initials: M
authors.lastname: Kohoutová
authors.forename: Jitka
authors.initials: J
authors.lastname: Stekrová
authors.forename: Václav
authors.initials: V
authors.lastname: Jirásek
authors.forename: Jan
authors.initials: J
authors.lastname: Kapras
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D003604:Czechoslovakia / Q000208:ethnology; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D017491:Genes, APC; D005838:Genotype; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D010641:Phenotype