HRM screening of the UBC9 gene encoding the SUMO-E2-conjugating enzyme- case-control study in breast cancer.

Abstract

UBC9 (E2) small ubiquitin-like modifier conjugating enzyme plays a key role in the post-translational modification of proteins named sumoylation. Defects in small ubiquitin-like modifier modification may contribute to breast carcinogenesis. In the present work, we examined UBC9genetic variation. UBC9genetic variation was analyzed by using the high resolution melting (HRM) method. HRM study was conducted on 173-182healthy women and 188-190women with breast cancer. During HRM screening, we analysed three known single-nucleotide polymorphisms in introns: rs4984806, rs909916and rs909917, and one known single nucleotide polymorphism rs8063in exon 7, in a non-coding region. The genotype frequencies for all polymorphisms were in accordance with Hardy- Weinberg equilibrium among the control subjects and breast cancer patients. The linkage disequilibrium analysis displayed that there was one polymorphism block, which consisted of three single nucleotide polymorphisms: rs909916, rs909917and rs4984806. We identified two common haplotypes CCG and TTC, but we did not find significant differences in the distribution of these haplotypes between cases and controls. Our study showed no differences in the occurrence of indicated polymorphisms in the UBC9gene in a group of healthy women compared to women with breast cancer. These results suggest that the polymorphisms of the UBC9gene- rs4984806, rs909916, rs909917and rs8063can be not associated with breast cancer risk.