内分泌治疗是激素受体阳性 (HR) 乳腺癌 (BC) 的标准治疗方法。然而，它伴随着治疗相关的毒性，导致治疗依从性差、复发率高和生存率低。虽然药物基因组变异有可能指导个性化治疗，但其预测价值在已发表的研究中并不一致。为了系统地评估内分泌治疗相关药物不良反应的药物基因组学文献现状，在 MEDLINE、Embase、Cochrane CENTRAL、Google Scholar 中进行系统搜索和 PharmGKB 数据库进行了分析。我们确定了 87 篇文章。各个研究中药物基因组效应的显着异质性和变异性是显而易见的，许多研究使用来自同一队列的数据，并且主要关注白种人群体和绝经后妇女。荟萃分析显示，V 因子 Leiden 突变是接受他莫昔芬治疗的女性血栓栓塞事件的预测因子 (p<0.0001)。荟萃分析还发现，rs7984870 和 rs2234693 与接受芳香酶抑制剂的绝经后妇女的肌肉骨骼毒性相关（分别为 p<0.0001 和 p<0.0001）。 总体而言，目前关于药物基因组学在内分泌治疗相关中潜在作用的证据体系不列颠哥伦比亚省的毒性在很大程度上仍然没有定论。主要问题包括毒性定义的异质性、缺乏对基因型与治疗相互作用的考虑以及未能考虑多重测试。该审查强调了进行更大规模、精心设计的研究的必要性，特别是纳入了绝经前妇女和非白人人群。版权所有 © 2024，国际抗癌研究所（George J. Delinasios 博士），保留所有权利。

Endocrine therapy is the standard treatment for hormone receptor-positive (HR+) breast cancer (BC). Yet, it is accompanied by treatment-related toxicities, leading to poor treatment adherence, high relapse, and low rates of survival. While pharmacogenomic variants have the potential to guide personalized treatment, their predictive value is inconsistent across published studies.To systematically assess the literature's current landscape of pharmacogenomics of endocrine therapy-related adverse drug effects, systematic searches in MEDLINE, Embase, Cochrane CENTRAL, Google Scholar and PharmGKB databases were conducted.We identified 87 articles. Substantial heterogeneity and variability in pharmacogenomic effects were evident across studies, with many using data from the same cohorts and predominantly focusing on the Caucasian population and postmenopausal women. Meta-analyses revealed Factor V Leiden mutation as a predictor of thromboembolic events in tamoxifen-treated women (p<0.0001). Meta-analyses also found that rs7984870 and rs2234693 were associated with musculoskeletal toxicities in postmenopausal women receiving aromatase inhibitors (p<0.0001 and p<0.0001, respectively).Overall, the current body of evidence regarding the potential role of pharmacogenomics in endocrine therapy-related toxicity in BC remains largely inconclusive. Key concerns include the heterogeneity in toxicity definitions, lack of consideration for genotype-treatment interactions, and the failure to account for multiple testing. The review underscores the necessity for larger and well-designed studies, particularly with the inclusion of premenopausal women and non-Caucasian populations.Copyright © 2024, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.