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目的 探讨细胞色素氧化酶P450 (CYP) 1A1 (rs4646903)和CYP1B1(rs1056836)基因单核苷酸多态性(SNPs)在乳腺癌患者中的分布情况及与临床病理的关系.方法 对四川大学华西医院2012年9月至2016年2月期间收治的337例乳腺癌患者以及同期469名健康体检者进行病例对照研究,采用直接测序法分析乳腺癌患者CYP1A1(rs4646903)和CYP 1B1 (rs 1056836) SNPs的分布情况,进一步分析不同基因型患者的临床病理特征差异.结果 乳腺癌患者及健康体检者在CYP1A1(rs4646903)基因SNPs的分布上差异无统计学意义(x2=0.409,P＞0.05),CYP 1B1 (rs 1056836) SNPs分布差异有统计学意义(x2=0.009,P＜0.01).在337例乳腺癌病例中,CYP 1A1 (rs4646903)基因SNPs分布与肿瘤的临床病理特征无明显关系,CYP1B1 (rs1056836)基因SNPs分布与淋巴结转移状态以及TNM分期有明显相关性(P＜0.05),纯合突变基因型(GG)淋巴结阴性率较高,TNM分期也较低.结论 CYP1B1 (rs1056836)基因SNPs与乳腺癌的发病风险相关,在乳腺癌患者中,纯合突变患者腋窝淋巴结转移率较低,TNM分期也较低.“,”Objective To discuss the distribution of single nucleotide polymorphism (SNPs) of the gene of cytochrome P450 (CYP) P1A1 (rs4646903) and CYP1B1 (rs1056836) on breast cancer patients and its relation between clinical pathology.Methods A case-control study were performed to analyze 337 breast cancer patients and 469 healthy individuals taking physical examination in West China Hospital of Sichuan University from September 2012 to February 2016.The direct sequencing method was used to analyze the distribution of SNPs in the gene of CYP1A1 (rs4646903) and CYP1B1 (rs1056836),and the disparity of clinical pathological characteristics in patients with different genotype among the breast cancer population were detected.Results There was no statistic difference of the distribution of CYP1A1 (rs4646903) in genotype between the two groups (x2=0.409,P＞0.05).There was a remarkable difference of the distribution of CYP1 B 1 (rs1056836) in genotype between the two groups (x2=0.009,P＜0.01).In 337 cases of breast cancer patients,the distribution in the polymorphism of CYP1A1 gene (rs4646903) was not associated with the clinical pathological characteristics of the tumor.The single nucleotide polymorphism of the gene of CYP1B1 (rs1056836) had significant correlation with the metastasis of lymph node and the TNM stage(P＜0.05).The homozygous mutant genotype was associated with higher negative rate of lymph node transformation and lower TNM stage.Conclusions The single nucleotide polymorphism of the gene of CYP1B1 (rs1056836) is associated with the risk of developing breast cancer.The homozygous mutant genotype in the breast cancer patients,have lower metastatic rate of axillary lymph node and TNM stage.