Emre Ozoran, Fadime Didem Can Trabulus, Duygu Erhan, Bahadir Batar, Mehmet Guven
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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.</p><p><strong>Results: </strong>Breast cancer risk was 5.43 times more in individuals with AA genotype of Bax G(-248) A (rs4645878) (<i>P</i> = 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) (<i>P</i> = 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.</p><p><strong>Conclusion: </strong>Multicenter trials using subjects with genetic variations are needed to establish the relationship between breast cancer and single gene polymorphism.</p>","PeriodicalId":46159,"journal":{"name":"International Journal of Breast Cancer","volume":null,"pages":null},"PeriodicalIF":1.6000,"publicationDate":"2022-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8938079/pdf/","citationCount":"1","resultStr":"{\"title\":\"Association of XRCC3, XRCC4, BAX, and BCL-2 Polymorphisms with the Risk of Breast Cancer.\",\"authors\":\"Emre Ozoran, Fadime Didem Can Trabulus, Duygu Erhan, Bahadir Batar, Mehmet Guven\",\"doi\":\"10.1155/2022/5817841\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Breast cancer is the most common malignancy in women. 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引用次数: 1
摘要
背景:乳腺癌是女性最常见的恶性肿瘤。与乳腺癌发病率相关的遗传风险因素已经确定。目的:本研究旨在探讨XRCC3 Thr241Met (rs861539)、XRCC4 G(-1394) T (rs6869366) DNA修复和BAX G(-248) A (rs4645878)、BCL2 C(-938) A (rs2279115)凋亡基因多态性与乳腺癌的相关性。材料和方法:采用外周血标本进行遗传分析。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测基因多态性。175名患者和158名健康对照者参加了这项研究。结果: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)。该基因型的转移风险为11倍。它与肿瘤大于2厘米的风险增加6倍有关。携带Met/Met基因型XRCC3 Thr241Met (rs861539)的个体患乳腺癌的风险是其2.77倍(P = 0.009)。具有Met/Met基因型的晚期临床阶段(III+IV期)的风险增加了4倍。XRCC4 G(-1394) T (rs6869366)和BCL2 C(-938) A (rs2279115)基因多态性与乳腺癌无相关性。结论:乳腺癌与单基因多态性之间的关系需要多中心试验来确定。
Association of XRCC3, XRCC4, BAX, and BCL-2 Polymorphisms with the Risk of Breast Cancer.
Background: Breast cancer is the most common malignancy in women. Genetic risk factors associated with breast cancer incidence have been identified.
Aims: 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.
Materials and methods: 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.
Results: Breast cancer risk was 5.43 times more in individuals with AA genotype of Bax G(-248) A (rs4645878) (P = 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) (P = 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.
Conclusion: Multicenter trials using subjects with genetic variations are needed to establish the relationship between breast cancer and single gene polymorphism.
期刊介绍：
International Journal of Breast Cancer is a peer-reviewed, Open Access journal that provides a forum for scientists, clinicians, and health care professionals working in breast cancer research and management. The journal publishes original research articles, review articles, and clinical studies related to molecular pathology, genomics, genetic predisposition, screening and diagnosis, disease markers, drug sensitivity and resistance, as well as novel therapies, with a specific focus on molecular targeted agents and immune therapies.
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