ABSTRACT
Purpose To investigate whether there is a difference in BRCA1 gene single nucleotide polymorphisms (SNPs) in Uighurs and Han Chinese sporadic breast cancer,and to analyze the relationship between SNPs locus and tumor susceptibility.Methods 100 cases of sporadic breast cancer (Uighur and Han 50 cases each) and 100 cases of mammary gland disease (Uighur and Han 50 cases each) were collected as the research object,the BRCA1 gene rs16941 and rs16942 were sequenced.Results The distribution of AA,AG and GG genotypes of rs16941 and rs16942 between Uygur and Han breast cancer groups were statistically significant (P =0.009,P =0.017).Compared with AA genotype of rs16941,AG genotype of rs16941 could reduce the risk of breast cancer in Uighurs (OR =0.964,95％ CI:0.260-3.583,P =0.009).Compared with AA genotype of rs16942,AG genotype of rs16942 could increase the risk of breast cancer in Uighurs (OR =1.017,95％ CI:0.293-3.916,P =0.017).Compared with AA genotype of rs16941,AG genotype could reduce the risk of breast cancer in Han nationality (OR=0.824,95％ CI:0.210-3.234,P =0.044).Conclusion The distribution of AA,AG and GG genotypes of rs16941 and rs16942 in Uygur and Han breast cancer groups are statistically significant,and SNPs is correlated with tumor susceptibility.