Association of XRCC1, HMMR genes with breast cancer in the Kyrgyz ethnic group

Abstract

An association of genes XRCC1 and HMMR with breast cancer (BC) has never been tested in the Kyrgyz ethnic group. This was a case-control study of 201 women of the Kyrgyz ethnic group with a morphologically verified breast cancer (N=99) and 102 controls age-matched with BC cases. The mean age of the patients was 53 years (24–74, SE mean = 0.967, STD=9.81). The extraction of DNA was carried out from venous blood. The genotyping was conducted by using the method of polymerase chain reaction and restriction fragment length polymorphism. When comparing the results of genotyping, the histological structure of the tumor and the «menopause» factor, Fisher»s exact test was used. Calculation of the odds ratio was carried out by cross tabulation method. A statistically significant link between the XRCC1 Arg194Trp polymorphism and the menopausal status was observed (p=0,018). The Arg / Arg genotype of XRCC1 Arg194Trp polymorphism occurred in 52 % of cases in women at menopausal age, whereas in women before the onset of menopause, the genotype Arg / Arg occurred in 78.8 % of BC cases (p=0.009). The CT genotype of HMMR V353A polymorphism was identified as “protective” factor – OR=0.481, 95 % CI [0.27‑0.85]. There was no statistically significant association between the results of genotyping and histological structure of the tumor, as well as the age of verification of the diagnosis of BC.

Functional polymorphisms of oxidative stress and repair genes as biomarkers of the risk of developing breast cancer

“…The efficiency of DNA repair in cells is one of the determining factors in preventing the development of cancer [15]. It has been suggested that functional disruptions in highly conserved DNA repair processes resulting from polymorphic variations may increase genetic susceptibility to breast cancer (BC) [10,16,17].…”