Association between single nucleotide polymorphism of BRCA1-interacting protein C-terminal helicase 1 and early-onset breast cancer in Uygur and Han women in Xinjiang of China

Abstract

The study investigated the association between single nucleotide polymorphisms (SNPs) of BRCA1-interacting protein C-terminal helicase 1 (BACH1) gene and early-onset breast cancer in Uygur and Han women in Xinjiang. SNPs of BACH1 gene exons were detected by direct sequencing and snapshot technique in 80 Uygur and 80 Han patients with breast cancer and 240 healthy Uygur and 240 healthy Han women (all younger than 40 years old). In Uygur and Han breast cancer patients, the variant C allele of rs4986764 SNP can reduce the risk of breast cancer. The protective effect of this locus is more obvious in Han breast cancer patients without tumor family history (P = 0.001, OR = 0.079). In Uygur breast cancer patients, the GG genotype of rs4986765 (OR = 5.617) and the G genotypes (AG + GG) in the dominant model (OR = 4.254) and the AG of c.587A > G SNP (OR = 7.590) and G genotypes (AG + GG) in the dominant model (OR = 7.590) significantly increased the risk of breast cancer. However, they did not significantly increase the risk of breast cancer in Han population. The present study demonstrates that the rs4986764 mutation of BACH1 gene may reduce the risk of early-onset breast cancer in Uygur and Han populations in Xinjiang. The protective effect was more obvious in Han population without family history of cancer. The change of rs4986765 and c.587A > G sites both increased the risk of breast cancer for Uygur. However, there was no significant correlation with early-onset breast cancer in Han population.