THE IMPORTANCE OF THE GENETIC METHODS FOR THE EARLY DIAGNOSTICS AND THE PROGNOSIS OF THE COURSE OF LARGE BOWEL ADENOMATOUS POLYPOSIS

Lozynska M., Plawski A., Lozynskyy Y.

The genealogic analysis, molecular and clin- ical investigations has been carried out in 26 patients from 17 families with multiply colorectal adenomas. The phenotypical symptoms in these patients were very vari- able and included different spectrum of extra-colonic symptoms. The disorders of the facial part of sculls and the soft tissue tumors were the most frequent addition- al markers of the disease in probands and in the group of high risk. The mutations of АРС and МYН genes were identified using automatic DNA sequencer. The marked mutations were detected in the half of patients with multiply polyposis, and 77% of the mutations ap- peared in APC gene. The majority of the patients with colorectal cancer with early manifestation of this onco- logical disease were in families with mutation in the co- don 674 TTG>TAG, leading to premature termination of translation and developing of the truncated protein with abnormal functions. The multiply colorectal ad- enomas were genetically heterogeneous group with dif- ferent malignant potential and with unequal contribu- tion of the hereditary component for their appearance. The patients with various genetical forms of the disease need different approaches during genetic consulting. from defect of base exicion repair to clinical genetic testing. DNA Repair (Amst) 2007; 6: 274–9.



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