title: The most frequent APC mutations among Slovak familial adenomatous polyposis patients. Adenomatous polyposis coli.
abstract: We screened 46 suspected families from whole Slovakia for familial adenomatous polyposis (FAP) cancer predisposition. Individuals were enrolled to the adenomatous polyposis coli (APC) gene mutations mapping program at the base of previous clinical investigation. We have used the following techniques: heteroduplex analysis (HDA), protein truncation test (PTT), single strand conformation polymorphism (SSCP) and sequencing for the identification and detailed positional analysis of APC mutations. Around 90% of all detected mutations were found being truncated. The most frequent mutations from this collection were located within codons 1309 and 1061 of exon 15 and represented 15% and 7%, respectively of all tested families. The expressive phenotype, large amount of colorectal polyps and congenital hypertrophy of the retinal pigment epithelium (CHRPE) were associated to all mutations within codons 1309 and 1060.
authors.affiliation: Dpt. of Cancer Genetics, Cancer Research Institute, Slovak Academy of Sciences, Bratislava, 833 91 Slovak Republic. exonvzaj@savba.sk
authors.forename: V
authors.initials: V
authors.lastname: Zajac
authors.forename: M
authors.initials: M
authors.lastname: Kovác
authors.forename: T
authors.initials: T
authors.lastname: Kirchhoff
authors.forename: V
authors.initials: V
authors.lastname: Stevurková
authors.forename: M
authors.initials: M
authors.lastname: Tomka
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D017931:DNA Primers / Q000737:chemistry; D005091:Exons; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D017491:Genes, APC; D005820:Genetic Testing; D020180:Heteroduplex Analysis; D006801:Humans; D008297:Male; D009154:Mutation; D009692:Nucleic Acid Heteroduplexes; D010641:Phenotype; D010857:Pigment Epithelium of Eye / Q000473:pathology; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018154:Slovakia
chemical_list: D017931:DNA Primers; D009692:Nucleic Acid Heteroduplexes