We studied the effect of functionally significant polymorphic markers of the ESR1 gene on the risk of breast cancer, tamoxifen resistance, and survival of patients with this type of cancer. The study included 239 primary breast cancer patients without distant metastases. The analysis of genotype frequency distribution for the studied ESR1 gene polymorphic markers showed the association of the rs2228480 and rs2234693 markers with tamoxifen resistance in the group of patients with luminal B type breast cancer. An association of these two polymorphic markers with the risk of tumor development was also revealed; for rs2234693 polymorphic marker, a relationship with the survival of patients was also showed.

中文翻译：

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ESR1基因多态性标志物在乳腺癌发生发展和他莫昔芬耐药性中的作用

我们研究了 ESR1 基因的功能显着多态性标记对乳腺癌风险、他莫昔芬耐药性和此类癌症患者生存率的影响。该研究包括 239 名无远处转移的原发性乳腺癌患者。所研究的ESR1基因多态性标志物的基因型频率分布分析表明，rs2228480和rs2234693标志物与管腔B型乳腺癌患者的他莫昔芬耐药相关。还揭示了这两种多态性标志物与肿瘤发展风险的关联；对于rs2234693多态性标志物，也显示出与患者生存的关系。