1. [Clinical and genetic features of APC- and MYH-mutation-negative patients with multiple polyposis of large bowel that tested by conventional methods].
- Author
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Lozyns'ka MR, Plavski A, and Lozyns'kyĭ IuS
- Subjects
- 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, Adenomatous Polyposis Coli genetics, Adenomatous Polyposis Coli Protein genetics, Colonic Neoplasms genetics, DNA Glycosylases genetics, Genes, APC, Point Mutation
- 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.
- Published
- 2014