Balkan Journal of Medical Genetics

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

INTRODUCTION

Checkpoint kinase 2 (CHEK2) phosphorylates P53 and BRCA1 proteins at a checkpoint of doublestranded DNA break signal transduction pathway to cell cycle control, apoptosis and DNA repair [1]. Walsh et al. [2] were the first to report a big truncation mutation of CHEK2 del5395 (g.27417113- 27422508del, NC_000022.11) in the Czech and Slovak Republics’ patients with a family history of breast cancer. Similar to further studies carried out in Poland, the del5395 mutation can also be found in the Polish population, so it was assumed to be an Eastern European founder mutation [3]. The frequency of the del 5395 mutation among Czech, Slovak and Polish populations is 0.9-1.3% [2-4]. The association between del5395 and cancers is still to be established. According to Cybulski et al. [4], the presence of the del5395 mutation increased the odds ratio (OR) of breast cancer development to 2.0. However, in another Polish study by Myszka et al. [5], no associations between del5395 and breast cancer development was found. In cases of colorectal cancer, Cybulski et al. [6] observed no association between the del5395 mutation and increased cancer risk, while the missense mutation I157T was found to play a role in cancer development. Presence of the del 5395 mutation is associated with an increased prostate cancer risk [3]. On the other hand, the CHEK2 mutations, including del5395, decrease the risk of lung and laryngeal cancers [7]. Most of the del5395 research is based on the Polish population. Thus, due to the lack of studies conducted in other Eastern European countries, we undertook to find out the following: 1) whether the del5395 is a founder mutation in the Latvian population, 2) if there is an association between CHEK2 del5395 mutation and a cancer risk, and 3) and whether CHEK2 del5395 mutation impacts cancer predisposition in Chernobyl disaster liquidators (the civil and military personnel who were called upon to deal with consequences of the 1986 nuclear disaster) as well as geriatric populations.

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