Distribution and susceptibility of ERCC1/XPF gene polymorphisms in Han and Uygur women with breast cancer in Xinjiang, China

This study aimed to explore the roles of ERCC1/XPF gene polymorphisms in the occurrence of breast cancer in the Uygur and Han ethnic groups in Xinjiang, China. Single nucleotide polymorphisms (SNPs) were detected by TaqMan real-time PCR. The rs11615 G>A and rs2276466 C>G variant frequencies were higher in Uygur patients with breast cancer than in Han patients, while the frequency of rs2298881 C>A was higher in Han patients. We found that rs2298881 C>A (CA vs. CC: OR = 0.35, 95% CI = 0.20-0.60; AA vs. CC: OR = 0.13, 95% CI = 0.04-0.34; CA + AA vs. CC: OR = 0.33, 95% CI = 0.18-0.51; AA vs. CA + CC: OR = 0.24, 95% CI = 0.08-0.62; CA vs. AA + CC: OR = 0.49, 95% CI = 0.29-0.82) was associated with a reduced breast cancer risk and rs3212986 C>A (AA vs. CC: OR = 4.80, 95% CI = 1.79-15.29,; CA+AA vs. CC: OR = 1.71, 95% CI = 1.06-2.77; AA vs. CA+CC: OR = 4.12, 95% CI =1.58-12.89) and rs11615 G > A (AA vs. GG: OR = 3.49, 95% CI =1.54-8.55; GA + AA vs. GG: OR = 1.98, 95% CI = 1.21-3.27; AA vs. GA+GG: OR = 2.87, 95% CI = 1.30-6.85) were associated with an elevated breast cancer risk among Uygur individuals. In addition, Uygur patients with breast cancer with 2-3 combined risk genotypes of ERCC1 had a higher risk than patients with 0-1 risk genotypes (OR = 2.91; 95% CI = 1.54-5.71, p = 0.001). However, we failed to detect a statistically significant association between ERCC1/XPF polymorphisms and breast cancer risk in five genetic models among Han individuals. Our results showed that ERCC1/XPF gene polymorphisms predispose Uygur individuals to breast cancer; this finding should be verified by further large-scale analyses.