Ozoran Emre, Trabulus Fadime Didem Can, Erhan Duygu, Batar Bahadir, Guven Mehmet
Department of General Surgery, School of Medicine, Koc University, Istanbul, Turkey.
Department of General Surgery, Bahcesehir University Faculty of Medicine, Istanbul, Turkey.
Int J Breast Cancer. 2022 Mar 14;2022:5817841. doi: 10.1155/2022/5817841. eCollection 2022.
Breast cancer is the most common malignancy in women. Genetic risk factors associated with breast cancer incidence have been identified.
This study is aimed at determining the association of XRCC3 Thr241Met (rs861539), XRCC4 G(-1394) T (rs6869366) DNA repair and BAX G(-248) A (rs4645878), and BCL2 C(-938) A (rs2279115) apoptotic gene polymorphisms with breast cancer.
Genetic analysis was performed using peripheral blood samples. Gene polymorphisms were detected by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. 175 patients and 158 healthy controls were enrolled in the study.
Breast cancer risk was 5.43 times more in individuals with AA genotype of Bax G(-248) A (rs4645878) ( = 0.002). The risk of metastasis was 11 times with this genotype. It was associated with 6 times more risk of having a tumor larger than 2 cm. The risk of breast cancer was 2.77 times more in individuals carrying the Met/Met genotype of XRCC3 Thr241Met (rs861539) ( = 0.009). The risk of having advanced clinical stage (stage III+IV) with the Met/Met genotype was 4 times more increased. No relationship with breast cancer was found with XRCC4 G(-1394) T (rs6869366) and BCL2 C(-938) A (rs2279115) gene polymorphisms.
Multicenter trials using subjects with genetic variations are needed to establish the relationship between breast cancer and single gene polymorphism.
乳腺癌是女性中最常见的恶性肿瘤。与乳腺癌发病相关的遗传风险因素已被确定。
本研究旨在确定XRCC3 Thr241Met（rs861539）、XRCC4 G（-1394）T（rs6869366）DNA修复基因以及BAX G（-248）A（rs4645878）和BCL2 C（-938）A（rs2279115）凋亡基因多态性与乳腺癌的关联。
采用外周血样本进行基因分析。使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术检测基因多态性。本研究纳入了175例患者和158例健康对照。
Bax G（-248）A（rs4645878）AA基因型个体患乳腺癌的风险高５.43倍（P = 0.002）。该基因型发生转移的风险高11倍。其与肿瘤大于2 cm的风险高6倍相关。携带XRCC3 Thr241Met（rs861539）Met/Met基因型个体患乳腺癌风险高2.77倍（P = 0.009）。Met/Met基因型发生晚期临床分期（III+IV期）的风险增加4倍。未发现XRCC4 G（-1394）T（rs6869366）和BCL2 C（-938）A（rs2279115）基因多态性与乳腺癌存在关联。
需要开展多中心试验，纳入具有基因变异的受试者，以确定乳腺癌与单基因多态性之间的关系。
