Association analysis of ERCC5 gene polymorphisms with risk of breast cancer in Han women of northwest China.

Background: ERCC5 plays an important role in DNA damage repair. Mutations in it will lead to DNA repair defects and genomic instability. Its functional single nucleotide polymorphisms (SNPs) may alter DNA repair capacity and affect cancer susceptibility.

Methods: This study aims to evaluate the association between SNPs in ERCC5 and breast cancer susceptibility in Han women subjects genetically from northwest China. A total of 101 breast cancer patients and 101 healthy controls provided blood samples for analysis of ERCC5 rs17655 and rs751402 genotypes.

Results: After adjusting covariates, rs751402 homozygote AA and heterozygote AG were found to confer statistically significant protections (OR 0.052, 95% CI 0.006-0.411, P = 0.005; OR 0.145, 95% CI 0.067-0.315, P < 0.001, respectively) against breast cancer. Moreover, both of the dominant and recessive models of rs751402 also conferred a decreased risk of breast cancer (AA + AG vs. GG, OR 0.125, 95% CI 0.060-0.261, P < 0.001; AA vs. GG + AG, OR 0.082, 95% CI 0.010-0.648, P = 0.018, respectively).

Conclusions: The results indicate that the rs751402 in ERCC5 may affect the risk of breast cancer and show that it is associated with breast cancer characteristics in the Han population of northwest China. However, we found no significant differences between breast cancer patients and control subjects regarding ERCC5 rs17655 polymorphism in the studied population.