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Tsitol Genet ; 48(1): 18-24, 2014.
Article in Ukrainian | MEDLINE | ID: mdl-24791470

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.


Subject(s)
Adenomatous Polyposis Coli Protein/genetics , Adenomatous Polyposis Coli/genetics , Colonic Neoplasms/genetics , DNA Glycosylases/genetics , Genes, APC , Point Mutation , Adenomatous Polyposis Coli/epidemiology , Adenomatous Polyposis Coli/physiopathology , Adolescent , Adult , Age Factors , Age of Onset , Colonic Neoplasms/epidemiology , Colonic Neoplasms/physiopathology , Female , Genetic Testing , Humans , Inheritance Patterns , Male , Middle Aged , Pedigree , Polymerase Chain Reaction , Polymorphism, Single-Stranded Conformational , Young Adult
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