ATM基因多态性与乳腺癌患病风险及临床病理特征的相关性分析

目的:探讨共济失调毛细血管扩张突变基因（ataxia-telangiectasia mutated gene,ATM）单核苷酸多态性（SNP）rs189037和rs609261两个位点多态性与乳腺癌患病风险及临床病理特征的关系。方法:收集我院未接受放、化疗的乳腺癌根治标本和乳腺良性肿瘤标本。采用多重SNaPshot法检测ATM基因rs189037和rs609261两个位点多态性，分析其与乳腺癌患病风险及临床病理特征的关系。结果:ATM基因rs189037位点多态性与乳腺癌患癌风险及临床病理特征无关（GA基因型，P=0.667）；rs609261位点携带TC、CC基因型的淋巴结转移患者患癌风险高于TT基因型携带者（TC+CC显性模型，P=0.015）。ATM基因rs189037和rs609261两个位点等位基因频率和基因型分布与免疫组化指标（ER、PR、HER2、Ki-67）无相关性（rs189037位点GA+AA显性模型和rs609261位点TC+CC显性模型，ER:P=0.676、0.675；PR:P=0.758、0.573；HER2:P=0.203、0.327；Ki-67:P=0.189、0.405）。结论:ATM基因rs189037位点与乳腺癌患癌风险及临床病理特征、免疫组化指标无明显相关性。rs609261位点携带TC、CC基因型的淋巴结转移患者可能增加患病风险。

Correlation analysis of ATM gene polymorphisms with breast cancer risk and clinicopathological features

Objective:To investigate the relationship between two loci polymorphisms,rs189037 and rs609261,of ataxia-telangiectasia mutated gene (ATM) single nucleotide polymorphisms and breast cancer and clinicopathological features.Methods:Radical breast cancer specimens and benign breast tumor specimens from our hospital who did not receive radiotherapy and chemotherapy were collected.Multiplex SNaPshot method was used to detect the polymorphisms of two loci of ATM gene rs189037 and rs609261,and their relationship with breast cancer risk and clinicopathological characteristics was analyzed.Results:The rs189037 polymorphism of ATM gene was not associated with breast cancer risk and clinicopathological characteristics (GA genotype,P=0.667).The cancer risk of lymph node metastasis patients with TC and CC genotypes at rs609261 was higher than that of TT gene Type carriers (TC+CC dominant model,P=0.015).The allele frequency and genotype distribution of the ATM gene rs189037 and rs609261 have no correlation with the immunohistochemical indicators (ER,PR,HER2,Ki-67) (the rs189037 locus GA+AA dominant model and the rs609261 locus) TC+CC dominant model,ER:P=0.676,0.675;PR:P=0.758,0.573;HER2:P=0.203,0.327;Ki-67:P=0.189,0.405).Conclusion:There is no significant correlation between the rs189037 locus of ATM gene and breast cancer risk,clinicopathological features and immunohistochemical indexes.Lymph node metastasis patients with TC and CC genotypes at the rs609261 locus may increase the risk of disease.