Department of Molecular and Cell Biology, Faculty of Basic Sciences, University of Mazandaran, Babolsar, Iran.
Department of Pathology, School of Medicine, Kashan University of Medical Sciences, Kashan, Iran.
Asian Pac J Cancer Prev. 2020 Sep 1;21(9):2709-2714. doi: 10.31557/APJCP.2020.21.9.2709.
Genetic polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene may alter the risk of breast cancer. This study aimed to investigate the association of MTHFR C677T and A1298C genetic polymorphisms with breast cancer risk in case-control studies which was followed by stratified analysis. In the case-control study, 300 subjects including 150 women with breast cancer and 150 healthy women were enrolled. After blood sample collection, the C677T and A1298C polymorphisms genotyping were done by the PCR-RFLP method. Our data revealed a significant association between MTHFR C677T and A1298C polymorphisms and breast cancer risk. But, as a preliminary study, stratified analysis revealed no significant association between C677T and A1298C polymorphisms and tumor size and also lymph node metastasis in breast cancer. According to the mentioned findings, the C677T and A1298C polymorphisms in the MTHFR gene could be molecular risk factors for breast cancer in our studied population. However, further studies with larger sample sizes are required to obtain a more accurate conclusion in stratified analysis.
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亚甲基四氢叶酸还原酶（MTHFR）基因中的遗传多态性可能改变乳腺癌的风险。本研究旨在通过病例对照研究，对 MTHFR C677T 和 A1298C 遗传多态性与乳腺癌风险的相关性进行探讨，然后进行分层分析。在病例对照研究中，纳入了 300 名受试者，包括 150 名乳腺癌女性和 150 名健康女性。采集血样后，采用 PCR-RFLP 方法对 C677T 和 A1298C 多态性进行基因分型。我们的数据显示，MTHFR C677T 和 A1298C 多态性与乳腺癌风险之间存在显著相关性。但是，作为初步研究，分层分析显示 C677T 和 A1298C 多态性与乳腺癌的肿瘤大小和淋巴结转移之间无显著相关性。根据上述发现，MTHFR 基因中的 C677T 和 A1298C 多态性可能是我们研究人群中乳腺癌的分子危险因素。然而，需要进一步扩大样本量的研究来获得分层分析中更准确的结论。
