THE CHEK2 del5395 IS A FOUNDER MUTATION WITHOUT DIRECT EFFECTS FOR CANCER RISK IN THE LATVIAN POPULATION
Plonis J*, Kalniete D, Nakazawa-Miklasevica M, Irmejs A, Vjaters E, Gardovskis J, Miklasevics E
*Corresponding Author: Juris Plonis, M.D., Institute of Oncology, Riga Stradins University, Dzirciema 16, LV- 1007, Riga, Latvia. Tel: +371-2915-9476. Fax: +371-6706-9904. E-mail: juris.plonis@inbox.lv
page: 33

DISCUSSION

Results obtained in this study support the assumption that del5395 is a founder mutation in the Eastern European population, although statistically significant relationship between the del5395 mutation and cancers risks could not be established. The frequency of del5395 in breast cancer patients (0.68%) was slightly lower than that reported in Poland [4,5], Czech Republic and Slovakia [2], whereas in ovarian cancer patients (1.0%) it was similar to that in the above reports. However, higher frequency of del5395 in the healthy control group significantly lowered the OR of each cancer group in this study. The Chernobyl liquidators had been exposed to high radiation that had caused DNA damage and higher cancer development risk [8]. Radiation is one of the factors activating the CHEK2 protein. In response to DNA damage, the CHEK2 protein interacts with several other proteins, including tumor protein 53 (that is produced from the TP53 gene). These proteins halt cell division and determine whether a cell will repair the damage or self-destruct in a controlled manner (undergo apoptosis). This process keeps cells with mutated or damaged DNA from dividing, thus helping to prevent the development of tumors [1]. It was assumed that the CHEK2 mutation carriers would be more sensitive to ionizing radiation and thus have a higher predisposition towards cancer development. Of the 51 cancer patients with different types of cancer in the Chernobyl liquidators group in this study (9.6%), none had the del5395 mutation. The geriatric control group was designed to estimate the strength of the del5395 mutation against mortality. If del5395 correlates with an increase in the rates of oncological diseases and mortality in the population, the geriatric group should have lower frequency of del5395. Nevertheless, we did not observe any statistically significant difference in the frequency of del5395 between the healthy control group and the geriatric group (OR = 0.89; 95% CI 0.13-5.28; p = 1). In the 51 Chernobyl liquidators with different localization of cancers, the del5395 mutation was not identified (data not shown). We concluded that the CHEK2 gene del5395 is a founder mutation in the Latvian population, which, however, does not have a direct impact on genetic predisposition toward colorectal, breast, ovarian and prostate cancer. Moreover, we believe that the del5395 mutation requires further research to identify additional genetic and/or environmental factors, which in combination with the above mutation, increase the odds of cancer development. Declaration of Interest. This study was supported by the State research program “Biomedicine for Public Health (BIOMEDICINE).” The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.



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