Sini Valentina, Botticelli Andrea, Lunardi Gianluigi, Gori Stefania, Marchetti Paolo
Clinical & Molecular Medicine Department, Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy.
Oncology Unit - ASL Roma 1 - Santo Spirito Hospital, Rome, Italy.
Pharmacogenomics. 2017 Jun;18(8):821-830. doi: 10.2217/pgs-2017-0006. Epub 2017 Jun 8.
This paper reviews genetic variations mainly related to the onset of adverse events during aromatase inhibitors in early breast cancer. Genetic variability could occur at different steps. The analysis included studies that involved breast cancer patients, treated with an aromatase inhibitor, genotyped for CYP19A1 and/or CYP17A1 and/or CYP27B1 and/or TCLA1, and/or RANK/RANKL/OPG and/or ESR1/ESR2, and assessed for toxicity profile. Twenty-two articles were included for the analysis. Three studies evaluated outcomes and adverse events; 19 studies assessed only side effects. Functional variations may be useful in predicting the onset of toxicities. The identification of polymorphisms at increased risk of toxicity may enable patient management. However, more data are needed to be applied in the individualization of treatment in daily practice.
本文综述了主要与早期乳腺癌芳香化酶抑制剂治疗期间不良事件发生相关的基因变异。基因变异性可能发生在不同步骤。该分析纳入了涉及接受芳香化酶抑制剂治疗的乳腺癌患者的研究，这些患者对CYP19A1和/或CYP17A1和/或CYP27B1和/或TCLA1，和/或RANK/RANKL/OPG和/或ESR1/ESR2进行了基因分型，并评估了毒性特征。纳入22篇文章进行分析。三项研究评估了结局和不良事件；19项研究仅评估了副作用。功能变异可能有助于预测毒性的发生。识别毒性风险增加的多态性可能有助于患者管理。然而，需要更多数据才能应用于日常实践中的个体化治疗。
