CLINICAL AND GENETIC FEATURES OF АРС- AND MYH-MUTATION-NEGATIVE PATIENTS WITH MULTIPLE POLYPOSIS OF LARGE BOWEL THAT TESTED BY CONVENTIONAL METHODS

LOZYNSKA M., PŁAWSKI A., LOZYNSKYY Y.

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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

E-mail: maria_lozynska ukr.net

LOZYNSKA M., PŁAWSKI A., LOZYNSKYY Y. CLINICAL AND GENETIC FEATURES OF АРС- AND MYH-MUTATION-NEGATIVE PATIENTS WITH MULTIPLE POLYPOSIS OF LARGE BOWEL THAT TESTED BY CONVENTIONAL METHODS, Tsitol Genet., 2014, vol. 48, no. 1, pp. 18-24.

In "Cytology and Genetics":
M. Lozynska, A. Pławski, Y. Lozynskyy Clinical and genetic characteristics of patients with multiple polyposis of the large bowel negative for APC and MYH gene mutations using conventional methods, Cytol Genet., 2014, vol. 48, no. 1, pp. 15-20
DOI: 10.3103/S0095452714010058