ATM基因rs4585位点多态性及免疫组化表达与乳腺癌相关性研究

Relationship between ATM gene polymorphism and immunohistochemical expression in breast cancer

目的探讨共济失调毛细血管扩张突变(ATM)基因单核苷酸多态性(SNP)rs4585位点及免疫组化表达在乳腺癌发生、发展过程中的相关性。方法应用多重SNaPshot法研究ATM基因rs4585位点的多态性,其中乳腺癌56例,乳腺良性肿瘤72例,并对乳腺癌组织进行雌激素受体(ER)、孕激素受体(PR)、人表皮生长因子受体2(HER2)和Ki-67蛋白进行检测,分析基因型与乳腺癌的关系。结果ATM基因rs4585基因型分布与乳腺癌患病风险无相关性(P>0.05),与乳腺癌的发生部位、病理类型、肿瘤大小、有无淋巴结转移,以及ER、PR、HER2、Ki-67的表达均无明显相关(P>0.05)。结论ATM基因rs4585位点多态性可能与乳腺癌患病风险、临床病理特征及免疫组化指标无明显相关。

Objective To investigate the correlation between rs4585 single nucleotide polymorphism(SNP)and immunohistchemical expression of Ataxia-Telangiectasia mutated gene(ATM)in the pathogenesis and development of breast cancer.Methods Multiple SNaPshot method was used to study the polymorphism of ATM gene rs4585 locus,including 56 cases of breast cancer and 72 cases of benign breast tumor.Estrogen receptor(ER),progesterone receptor(PR),human epidermal growth factor receptor 2(HER2)and Ki-67 proteins were detected in breast cancer tissues.To analyze the relationship between genotype and breast cancer.Results There was no correlation between ATM gene rs4585 genotype distribution and breast cancer(P>0.05).There was no correlation between theexpression of ER,PR,HER2,Ki-67 and breast cancer(P>0.05).Conclusion ATM gene rs4585 polymorphism may not be associated with genetic susceptibility,clinicopathological features and immunohistochemical indexes of breast cancer.