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CLINICAL AND GENETIC FEATURES OF АРС- AND MYH-MUTATION-NEGATIVE PATIENTS WITH MULTIPLE POLYPOSIS OF LARGE BOWEL THAT TESTED BY CONVENTIONAL METHODS
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SUMMARY. 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 АРС and MYH mutation-negative. Three (25 %) probands have positive family history. The median of the disease manifestation age in АРС-negative patients was intermediate between the median of the disease manifestation age in АРС- and MYH-positive patients. Extraintestinal manifestations in the АРС-negative probands are more rare than in APC-positive patients. A half of АРС- and MYH-negative probands with multiple polyposis had colorectal cancer. АРС- and MYH-negative patients formed a genetically heterogenous group.
Tsitologiya i Genetika 2014, vol. 48, no. 1, pp. 18-24
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|Coded & Designed by Volodymyr Duplij||Modified 01.06.23|