Abstract:Objective:To investigate the relationship between the polymorphisms of folate metabolism—related enzyme genes(MTRR,rs1801394; MTR,rs1805087; MTHFR, rs1801133; FHTFD,rs2002287; FTHFD,rs2276731)and the risk and pathologic characteristics of breast cancer in Chinese women. Methods:This case-control study included 298 female patients with breast cancer and 298 healthy female controls. Sequenom MassArray was applied to detect the genotypes of the polymorphisms,and logistic regression was utilized to analyze their association with the risk and pathologic characteristics of breast cancer. Results:Significant differences were found in the frequencies of the rs1801394(χ2=9.900,P=0.007)between the case and control groups. The frequencies of AG genotypes were obviously lower in the control s(28.52%)than those in the cases (38.59%). Conclusion:The genotype of rs1801394 AG was associated with breast cancer risk,which was independ to the pathologic characteristics of tumor and of the level of estrogen receptor(ER),progesterone receptor(PR)and human epidermalgrowth factor receptor-2(HER2 and erbB-2).