Association of Genetic Variations in XRCC1 and ERCC1 Genes with Sporadic Breast Cancer

Abstract

Background: Recently, findings have validated the significant role of DNA damage genes related to the pathogenesis of breast cancer (BC). The aim of the present investigation was to evaluate possibility roles of two common XRCC1 (rs25487; A > G) and ERCC1 (rs3212964; A > G) gene polymorphisms with the risk of sporadic BC. Methods: This was a case-control study, consisting of 100 females identified with sporadic BC and 100 malignancy-free females as the control group. This study used Tetra-ARMS Polymerase Chain Reaction (PCR) and PCR-Restriction Fragment Length Polymorphism (RFLP) methods to determine genotype frequencies of XRCC1 and ERCC1 genes. Results: The findings did not reveal a statistically significant difference in the genotype frequencies of XRCC1 and ERCC1 genes between the two groups (P > 0.05). The frequency of G mutant allele for XRCC1 and ERCC genes was higher in cases compared to controls, while the difference between the groups was not statistically significant (P = 0.202; OR: 1.312; CI: 0864 -1.994), (P = 0.352; OR: 1.213; CI: 0.808 -1.820). Conclusions:The current results provide evidence against the hypothesis that XRCC1 (rs25487) and ERCC1 (rs3212964) gene polymorphisms may be associated with a predisposition to sporadic BC.

The interplay between XPG‐Asp1104His polymorphism and reproductive risk factors elevates risk of breast cancer in Tanzanian women: A multiple interaction analysis

“…However, contrast to our findings, a study in Russian women indicated that 399Arg codon to be a potential risk factor for BC 23 . Some other studies, however, have found no association between XRCC1 rs25487 polymorphism and BC susceptibility 24,25 . We also demostrated that three genetic inheritance models of XRCC1 rs25487 polymorhism were associated with BC risk in our study population.…”

“…23 Some other studies, however, have found no association between XRCC1 rs25487 polymorphism and BC susceptibility. 24,25 We also demostrated that three genetic inheritance models of XRCC1 rs25487 polymorhism were associated with BC risk in our study population. Nevertheless, these results are supported by a meta analysis study that suggested the dominant model (Arg/Gln + Arg/Arg vs Gln/Gln) and co-dominant model (Gln/Gln vs. Arg/Arg, and Arg/Arg vs. Gln/Gln) were associated with BC in African population.…”