基因 rs2234693 和 rs9340799 单核苷酸多态性与乳腺癌风险的分析。
Analysis of Single Nucleotide Polymorphisms (SNPs) rs2234693 and rs9340799 of the Gene and the Risk of Breast Cancer.
机构信息
Laboratory of Cancer Genetics, Department of Pathology, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland;
Department of Chemotherapy, Medical University of Lodz, Copernicus Memorial Hospital, Lodz, Poland.
出版信息
In Vivo. 2024 Sep-Oct;38(5):2134-2143. doi: 10.21873/invivo.13676.
BACKGROUND/AIM: The aim of this study was to analyze rs2234693 and rs9340799 polymorphisms of the ESR1 gene in the context of breast cancer risk in Polish patients.
MATERIALS AND METHODS
The study involved a group of 117 patients with breast cancer and 106 controls. The analyses were carried out using the polymerase chain reaction - restriction fragments length polymorphism technique.
RESULTS
The presence of the CC genotype in rs2234693 more than doubled the risk of breast cancer (p=0.04), whereas the presence of the TT genotype in rs2234693 significantly reduced the risk of developing this type of cancer (p=0.0002). The presence of the GG genotype in rs9340799 more than doubled the risk of breast cancer (p=0.04), which was confirmed by the analysis of the recessive model (p=0.04).
CONCLUSION
The polymorphisms rs2234693 and rs9340799 of the ESR1 gene may be associated with the risk of breast cancer among Polish women.
背景/目的：本研究旨在分析 ESR1 基因 rs2234693 和 rs9340799 多态性与波兰患者乳腺癌风险的关系。
材料与方法
研究纳入了 117 例乳腺癌患者和 106 例对照。采用聚合酶链反应-限制性片段长度多态性技术进行分析。
结果
rs2234693 中的 CC 基因型使乳腺癌的风险增加了一倍以上（p=0.04），而 rs2234693 中的 TT 基因型则显著降低了这种癌症的发病风险（p=0.0002）。rs9340799 中的 GG 基因型使乳腺癌的风险增加了一倍以上（p=0.04），这在隐性模型分析中得到了证实（p=0.04）。
结论
ESR1 基因的 rs2234693 和 rs9340799 多态性可能与波兰女性乳腺癌的发病风险相关。
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