title: Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP).
abstract: Development of one hundred or more adenomas in the colon and rectum is diagnostic for the dominantly inherited, autosomal disease Familial Adenomatous Polyposis (FAP). It is possible to identify a mutation in the Adenomatous Polyposis Coli (APC) gene in approximately 80% of the patients, and almost 1,000 different pathogenic mutations have been identified in the APC gene up till now. We report 12 novel and 24' previously described germline APC mutations from 48 unrelated Danish families. Four families with the mutation localized in the 3' region of the gene showed great variance in phenotypic presentation.
authors.affiliation: The Danish Polyposis Register, Department of Surgical Gastroenterology 435, Hvidovre University Hospital, Hvidovre, Denmark.
authors.forename: Marie Luise
authors.initials: ML
authors.lastname: Bisgaard
authors.forename: Rasmus S
authors.initials: RS
authors.lastname: Ripa
authors.forename: Steffen
authors.initials: S
authors.lastname: Bülow
mesh_terms: D024509:3' Flanking Region; D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D004252:DNA Mutational Analysis; D003718:Denmark; D005260:Female; D017491:Genes, APC; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype