title: [Clinical and genetic features of APC- and MYH-mutation-negative patients with multiple polyposis of large bowel that tested by conventional methods].
abstract: The genealogic analysis, molecular and clinical investigations has been carried out in 19 probands with multiple colorectal adenomas (approximately 100 or more). Twelve of these patients (63.1%) were APC and MYH mutation-negative. Three (25%) probands have positive family history. The median of the disease manifestation age in APC-negative patients was intermediate between the median of the disease manifestation age in APC- and MYH-positive patients. Extraintestinal manifestations in the APC-negative probands are more rare than in APC-positive patients. A half of APC- and MYH-negative probands with multiple polyposis had colorectal cancer. APC- and MYH-negative patients formed a genetically heterogenous group.
authors.forename: M R
authors.initials: MR
authors.lastname: Lozyns'ka
authors.forename: A
authors.initials: A
authors.lastname: Plavski
authors.forename: Iu S
authors.initials: IuS
authors.lastname: Lozyns'kyĭ
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000367:Age Factors; D017668:Age of Onset; D003110:Colonic Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D045647:DNA Glycosylases / Q000235:genetics*; D005260:Female; D017491:Genes, APC; D005820:Genetic Testing; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D055815:Young Adult
chemical_list: D025601:Adenomatous Polyposis Coli Protein; D045647:DNA Glycosylases; C061738:mutY adenine glycosylase