title: Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis.
abstract: In the course of presymptomatic diagnosis in families with familial adenomatous polyposis (FAP) we screened 202 unrelated patients for mutations in the APC gene. Germ-line mutations were identified in 20.8% of the index patients by a single step screening procedure based on heteroduplex analysis of a PCR product encompassing codons 1027-1384 of the APC gene. The most common mutations in our sample were a 5 bp deletion at codon 1309 in 9% of the families, a 5 bp deletion at codon 1061 in 5% and a 4 bp deletion at codon 1068 in 2.5% of the families. In addition, 11 novel mutations localized within the exons 11-15 of the APC gene were identified by the heteroduplex or SSCP methods.
authors.affiliation: Institute of Human Genetics, University of Bonn, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Mandl
authors.forename: R
authors.initials: R
authors.lastname: Paffenholz
authors.forename: W
authors.initials: W
authors.lastname: Friedl
authors.forename: R
authors.initials: R
authors.lastname: Caspari
authors.forename: M
authors.initials: M
authors.lastname: Sengteller
authors.forename: P
authors.initials: P
authors.lastname: Propping
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000097:blood / Q000235:genetics* / Q000601:surgery; D001483:Base Sequence; D002648:Child; D004273:DNA, Neoplasm / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; D005260:Female; D017491:Genes, APC; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009692:Nucleic Acid Heteroduplexes / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation
chemical_list: D004273:DNA, Neoplasm; D009692:Nucleic Acid Heteroduplexes