在东亚，乳腺癌的发病率一直在迅速增加，特别是在绝经前女性中。雌激素-DNA 加合物比例升高与乳腺癌风险升高相关。本研究探讨了碱基切除修复（BER）基因多态性和雌激素-DNA加合物之间的相互作用对乳腺癌风险的影响。我们进行了一项病例对照研究，包括健康志愿者和患有良性乳腺疾病的个体（对照组，n = 176）和浸润性癌或原位癌患者（病例组，n = 177）。对 BER 相关基因（包括 SMUG1、OGG1、ERCC5 和 APEX1）进行了基因分型。使用逻辑回归模型，结合基因多态性、雌激素-DNA加合物比率和临床变量之间的相互作用来确定乳腺癌的危险因素。单变量分析表明乳腺癌风险与 APEX1 rs1130409 T > G 之间存在边际关联（P = 0.057) 和 APEX1 rs1760944 T > G (P = 0.065)。多变量回归分析显示，APEX1_rs1130409（GT/GG 与 TT）的乳腺癌风险增加与雌激素-DNA 加合物比率的自然对数值（估计 OR 1.164，P = 0.023）和雌激素-DNA 绝经前状态显着相关加合物比率 > 2.93（估计OR 2.433，P = 0.001）。 APEX1_rs1130409（GT/GG 与 TT）多态性与 BER 活性降低相关，加上雌激素-DNA 加合物比率增加，增加乳腺癌风险东亚女性。© 2024。作者获得施普林格自然旗下 Springer Science Business Media, LLC 的独家许可。

In East Asia, the incidence of breast cancer has been increasing rapidly, particularly among premenopausal women. An elevated ratio of estrogen-DNA adducts was linked to a higher risk of breast cancer. The present study explored the influence of the interaction between base excision repair (BER) gene polymorphisms and estrogen-DNA adducts on breast cancer risk.We conducted a case-control study comprising healthy volunteers and individuals with benign breast disease (control arm, n = 176) and patients with invasive carcinoma or carcinoma in situ (case arm, n = 177). Genotyping for BER-related genes, including SMUG1, OGG1, ERCC5, and APEX1, was performed. A logistic regression model, incorporating interactions between gene polymorphisms, estrogen-DNA adduct ratio, and clinical variables, was used to identify the risk factors for breast cancer.Univariate analysis indicated marginal associations between breast cancer risk and APEX1 rs1130409 T > G (P = 0.057) and APEX1 rs1760944 T > G (P = 0.065). Multivariate regression analysis revealed significant associations with increased breast cancer risk for APEX1_rs1130409 (GT/GG versus TT) combined with a natural logarithmic value of the estrogen-DNA adduct ratio (estimated OR 1.164, P = 0.023) and premenopausal status with an estrogen-DNA adduct ratio > 2.93 (estimated OR 2.433, P = 0.001).APEX1_rs1130409 (GT/GG versus TT) polymorphisms, which are related to decreased BER activity, combined with an increased ratio of estrogen-DNA adducts, increase the risk of breast cancer in East Asian women.© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.