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

MATERIALS AND METHODS

Patients and Control Groups. From 2010 to 2012, we recruited random groups of volunteers consisting of 438 breast cancer patients, negative for both the BRCA1 (4153delA and insC5382) and BRCA2 (886delTG and 873delG) founder mutations; 568 colorectal cancer patients; 399 ovarian cancer patients; and 419 prostate cancer patients diagnosed at the Pauls Stradins University Hospital, the Latvian Oncology Centre, Riga, Latvia and the Daugavpils Oncology Hospital, Daugavpils, Latvia. Control groups consisted of 526 healthy blood donors, 480 Chernobyl disaster liquidators and 444 geriatric cancer-free participants. All participants signed the informed consent form. The study was approved by the Pauls Stradins University Hospital Ethics Committee. DNA Analysis. DNA samples were isolated from blood samples and subjected to multiplex polymerase chain reaction (PCR). Multiplex PCR was performed using previously described primer pairs [3]. The truncation of del5395 was identified by multiplex PCR. Briefly, two primer pairs were used for genotyping of a large deletion of exons 9 and 10. The first pair flanked a breakpoint site in intron 8. The second pair flanked a breakpoint site in intron 10. In mutationnegative cases, only two PCR fragments of 379 and 522 bp were amplified from the wild-type allele. The forward primer of the first pair and the reverse primer of the second pair amplified an additional PCR product of 450 bp in mutation-positive cases. The presence of the deletion was confirmed by sequencing. Statistical Analysis. All cancer patient groups, Chernobyl disaster liquidators and the geriatric group were compared to the healthy blood donors using Fisher’s exact test. All p values were two-sided and OR was calculated by two-by-two table. Software program R Bioconductor (http://www.bioconductor. org) was used for all statistical analyses.

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