Evaluation of the Association in the Chek2 Gene with Breast Cancer in the Uzbekistan Population

Abstract

A total of 200 cases of breast cancer were diagnosed in our experiment. Patients with stage I-IV breast cancer, aged 30-65 years, who received chemotherapy (the main group) and 100 healthy women (the control group) were selected. Information on histological examination of the tumour and blood biochemistry was obtained from the patients' medical records. DNA was isolated from the blood of women from the main and control groups using the “Ampli Prime Ribo-prep” kits (OOO “Next Bio”, Russia). PCRs were performed on the Corbett Research GRADIENT PALM CYCLER PCR Analysers CG1-96 (Australia) amplifier. The functionally dangerous allele T of the CHEK2 gene Ile157Thr polymorphism was statistically significantly more common in patients with breast cancer than in healthy donors (2.0% and 0.5%, respectively). The safe C allele, on the other hand, was more common in the control group than in the main group (99.5% and 98.0%, respectively).

The aim of the study is to determine the frequency of the Ile157Thr rs17879961 polymorphism of the tumour protein CHK2 in the development of breast cancer in the Uzbek female population, its association with onco markers and the Pro72Arg polymorphism of the Tp53 gene.

Materials and Methods. The quantity and quality of the isolated DNA were checked using a NanoDrop 2000 (Thermo Fisher Scientific, USA) spectrophotometer. Polymerase chain reaction was performed on a Corbett Research GRADIENT PALM CYCLER PCR Analyzers CG1-96 (Australia) amplifier, and statistical analysis of the results was calculated using the statistical computer programs “WinPEPI 2016, Version 11.65” and “EpiCalc 2000 Version 1.02”.

Rusults. A total of 200 women with breast cancer, who formed the main group, and 100 conditionally healthy Uzbek women in the control group, participated in the study. The results of biochemical blood tests of patients and immunohistochemistry (ER, PR, Her2/neu, Ki67) oncomarkers were obtained from the patients' medical records and the association with the CHEK2 gene Ile157Thr polymorphism was examined. The CHEK2 gene Ile157Thr polymorphism C/C (natural) and C/T (heterozygous) genotypes were detected in 200 patients from the main group.

Conclusion. The findings suggest that the G allele and the heterozygous C/G genotype of this polymorphism may be among the factors increasing the risk of breast cancer (p > 0.05).