The development of rs7107217 genotyping method and initial study of the association of this gene with the breast cancer risk in Vietnamese women

Abstract

Breast cancer is the most common cancer for women around the world. The presence of single nucleotide polymorphisms (SNP) on or near the coding region of breast cancer susceptibility genes can affect the regulation of gene expression, which may increase or decrease the risk of breast cancer. BARX2 was showed to stimulate the expression of ERS1, which involved in the development of breast cancer. SNP rs7107217 on 152kb downstream of the BARX2 could affect the level of protein BARX2 and had been proved to associate with the breast cancer risk in populations similar to Vietnamese, including Chinese and Korean. In this study, rs7107217 was genotyped and initially detemined the association with the breast cancer risk in Vietnamese. Real-time PCR HRM was optimized and used to genotype rs7107217 in 117 breast cancer cases and 105 healthy controls. Thereafter, the correlation of this SNP with the risk of breast cancer was initially determined by analyzing the differences in allelic and genotypic frequencies between cases and control groups. The results showed the optimal rs7107217 genotyping condition was successfully developed with the high sensitivity, specificity, and consistency. SNP rs7107217 had high polymorphism with the frequency of minor allele C of 29.9% and 35.3% in case and control, respectively. SNP rs7107217 had been found no association with the breast cancer risk (C vs A: P = 0.23, OR (95% CI) = 0.79 (0.53 – 1.17)). However with the low reliability of the analysis (11.71%) and the high potential related to the formation of breast cancer, the association between rs7107217 and breast cancer risk in Vietnamese population should be further conducted on a larger sample size to get higher accuracy.