Research Institute of General Pathology and Pathophysiology, Moscow, Russia.
I. M. Sechenov First Moscow State Medical University, Ministry of Health of Russian Federation (Sechenov University), Moscow, Russia.
Bull Exp Biol Med. 2021 Jan;170(3):350-355. doi: 10.1007/s10517-021-05065-y. Epub 2021 Jan 16.
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.
我们研究了 ESR1 基因功能显著多态性标记物对乳腺癌风险、他莫昔芬耐药性以及此类癌症患者生存的影响。该研究纳入了 239 例无远处转移的原发性乳腺癌患者。对所研究的 ESR1 基因多态性标记物的基因型频率分布进行分析，结果显示 rs2228480 和 rs2234693 标记物与 luminal B 型乳腺癌患者的他莫昔芬耐药性相关。还揭示了这两个多态性标记物与肿瘤发展风险的关联；对于 rs2234693 多态性标记物，还显示与患者生存有关。
