9P - XRCC1 Arg194Trp, Palb2 T1100T (3300T>G), HMMR V353A, TNF aG308A polymorphisms as diagnostic and prognostic markers of breast cancer in the Kyrgyz ethnic group

Background

Breast cancer is identified as a leading cancer in Kyrgyz females. Poor diagnostic approaches lead to high rate of advanced breast cancer cases and consequently to a high mortality rate. Genetic testing is a promising method of prevention and early diagnosis of breast cancer.

Methods

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 48 years (minimum 24, maximum 74, STD=9.83). The extraction of DNA was carried out from venous blood. The genotyping was performed by using restriction fragment length polymorphism assay.

Results

Genotype CT of the polymorphic variant V353A HMMR gene has been defined as protective factor and decreases the risk of developing of breast cancer in the Kyrgyz population (OR=0,481, 95%CI 0,272 – 0,850, р=0,011). As well as combinations of the allele 194Trp (XRCC1 Arg194Trp) and genotype СТ (HMMR V353A) (OR=0,302, [95% CI 0,128-0,713], р=0,005), CT/TT (OR=0,459, 95% CI [0,259-0,814], р=0,007) of HMMR V353A and Palb2 T1100T (3300T>G)polymorphisms, CT/GG (OR=0,546, 95% CI [0,298-0,999], р=0,048) of HMMR V353A and TNF aG3080A polymorphisms are associated with decreased risk of developing of breast cancer in the Kyrgyz ethnic group. Furthermore, the allele 194Trp is associated with late age of diagnosis of breast cancer when comparing to 194Arg allele of XRCC1 gene (p=0,017), more often occurs in postmenopausal women (p=0,005) and in women with high BMI (>25) (p=0,003).

Conclusions

The above genotypes may be used as markers for evaluation of the risk of breast cancer in the Kyrgyz ethnic group.

Clinical trial identification

Editorial acknowledgement