The role of XRCC1, XRCC3 and PALB2 genes in the genesis of breast cancer

Abstract

Background: this study describes the contribution of XRCC1, XRCC3 and PALB2 genes in the genesis of sporadic forms of breast cancer in Belarus patients. Materials and Methods: this study included 169 patients with sporadic breast cancer and 185 healthy patients. The molecular genetic analysis was performed by RFLP and PAGE electrophoresis. Results: in this study we identified genotypes of high risk breast cancer patient’s for PALB2, XRCC1 and XRCC3 genes. We also discovered a statistically significant associations between the GG genotype for p.Q399R (XRCC1) and tumor grade, and between TT genotype for XRCC3 gene and the presence of metastases in the regional lymph nodes. The patients with TT genotype (p.T241M, XRCC3) showed the fivefold increase in the risk of local breast cancer recurrence. Conclusion: For the first time it was determined the prevalence of polymorphic variants of the DNA repair genes: p.Q399R (XRCC1), p.T241M (XRCC3), p.T1100T (PALB2) and p.Q559P (PALB2) for Belarus patients with the breast cancer. Analysis of SNPs in the DNA repair key genes may have clinical and prognostic significance during the formation of high risk patient’s groups developing the breast cancer.

Keywords

breast cancer / excision repair / homologous recombination / polymerase chain reaction / odds ratio

RIGHTS & PERMISSIONS

Kipen V.N., Melnov S.B., Smolyakova R.M.