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

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


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


1. Boland CR. Chronic inflammation, colorectal cancer and gene polymorphisms. Dig Dis 2010; 28: 590– 595.

2. Bátovský M. Genetická diagnostika nešpecifických črevných zápalov a kolorektálneho karcinómu –  aktuálny prehľad. Lek Obz 2008; 56: 119– 123.

3. Akkiprik M, Ataizi‑ Celikel C, Düsünceli F et al.Clinical Significance of p53, K‑ ras and DCC Gene Alterations in the Stage I– II Colorectal Cancers. J Gastrointestin Liver Dis 2007; 16: 11– 17.

4. Bátovský M. Genetické puzzle v diagnostike kolorektálneho karcinómu. Gastroenterol prax 2008; 7: 82– 84.

5. Bolocan A, Ion D, Stoian RV et al. Map syndrome (MYH Associated Polyposis) colorectal cancer, etiopathological connections. J Med Life 2011; 4: 109– 111.

6. Pritchard CC, Grady WM. Colorectal cancer molecular bio­logy moves into clinical practice. Gut 2011; 60: 116– 129.

7. Cho JH. Inflammatory bowel disease: Genetic and epidemiologic considerations. World J Gastroenterol 2008; 14: 338– 347.

8. Zhang H, Massey D, Tremelling M et al. Genetics of inflammatory bowel disease: clues to pathogenesis. Br Med Bull 2008; 87: 17– 30.

9. Fritz T, Niederreiter L, Tilg H et al. Controversy over NOD2, inflammation and defensis. Inflamm Bowel Dis 2010; 26: 1996– 1998.

10. Limbergen JV, Russell RK, Nimmo ER et al. The Genetics of Inflammatory Bowel Disease. Am J Gastroenterol 2007; 102: 2820– 2831.

11. Bátovský M. Novinky v etiopatogenéze a v genetickej diagnostike nešpecifických črevných zápalov. Gastroenterol prax 2008; 7: 59– 61.

12. Hamm CM, Reimers MA, McCullough CK et al. NOD2 status and human ileal gene expression. Inflamm Bowel Dis 2010; 16: 1649– 1657.

13. Bátovský M, Desatová B, Páv I et al. Génový polymorfizmus NOD2/ CARD15 významne vplýva na skorší vznik Crohnovej choroby v populácii slovenských pacientov. Čes Slov Gastroent Hepatol 2009; 63: 208– 215.

14. Begum NA, Ishii K, Kurita‑ Taniguchi M et al. Mycobacterium bovis BCG cell wallspecific differentially expressed genes identified by differential display and cDNA subtraction in human macrophages. Infect Immun 2004; 72: 937– 948.

15. Noble CL, Abbas AR, Lees CW et al. Characterization of intestinal gene expression profiles in Crohn’s disease by genome‑ wide microarray analysis. Inflamm Bowel Dis 2010; 16: 1717– 1728.

16. Haritunians T, Taylor KD, Targan SR. Genetic predictors of medically refractory ulcerative colitis. Inflamm Bowel Dis 2010; 16: 1830– 1840.

Diabetology Endocrinology Internal medicine

Article was published in

Internal Medicine

Issue 11

2013 Issue 11

Most read in this issue

This topic is also in:

Forgotten password

Don‘t have an account?  Create new account

Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.


Don‘t have an account?  Create new account