Possibilities of genetic diagnostics of intestine tumour and inflammatory diseases in Slovakia

Czech version

Authors: B. Desatová ¹; M. Bátovský ¹; I. Mľkvá ²
Authors‘ workplace: Klinika gastroenterológie Lekárskej fakulty SZU a UN Bratislava, Slovenská republika, prednosta doc. MU Dr. Marian Bátovský, CSc., mim. prof. SZU ¹; Oddelenie klinickej genetiky Ústavu lekárskej biológie, genetiky a klinickej genetiky Lekárskej fakulty UK a UN Bratislava, Slovenská republika, prednosta doc. MU Dr. Daniel Böhmer, PhD. ²
Published in: Vnitř Lék 2013; 59(11): 977-980
Category: Review

Overview

In recent years, gastroenterologists focused their interest on finding the genetic background of inflammatory bowel disease and colon cancer. NOD2/ CARD15 gene is still the most investigated gene of all known genes and its mutations can explain approximately 20% of genetic predisposition to Crohn’s disease. From later identified genes that play an important role in the etiology of Crohn’s disease, the IL23R and ATG16L1 genes have a perspective place. In the case of hereditary colorectal cancer, we can select by the help of genetic diagnostics, the group of patients with high risk of colon cancer, which requires more intensive monitoring. The aim is to find out the colon cancer in the early, treatable stage. In practical terms, genetic diagnostics of inflammatory bowel disease and colon cancer has no screening and only poor prognostic importance. It is pleasant, that the Slovak genetic workplaces are interested in this issue and in accordance with modern trends they try to expand its diapason.

Key words:
inflammatory bowel disease –⁠ genetic analyses –⁠ NOD2/ CARD15 –⁠ hereditary colorectal cancer

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