中文摘要：

随着人类基因组计划的完善以及高通量基因检测技术的发展，遗传药理学研究也实现了质的飞跃，寻找到了更多可利用的研究方法和思路并将其成果应用于临床。遗传药理学旨在通过研究与人类药物代谢、排泄等相关的候选基因的变异，探讨基因多态性与药物疗效不良反应的个体、种族差异之间的关系。乳腺癌发病率在全球有逐年上升的趋势，激素治疗和化疗是乳腺癌必不可少的治疗手段，CYP2D6和ABCB1等基因的多态性已被证实与抗乳腺癌药他莫昔芬、蒽环类药物临床疗效以及毒副反应有密切关系。抗乳腺癌常用药物他莫昔芬、紫杉醇、吉西他滨及阿霉素的临床治疗反应差异及其相关基因的遗传药理学机制研究为指导乳腺癌患者个体化用药提供了许多重要的理论依据。本文综述了他莫昔芬等抗乳腺癌药物的遗传药理学研究现状及其进展。

英文摘要：

Pharmacogenetics studies have rapidly developed with the completion of the Human Genome Project and rapid progress of high throughput genetic testing technology. More and more research achievements in phar-macogenetics have found its way in clinical appli- cation. Pharmacogenetics aims to find the asso-ciation between genetic variability and drug effi-cacy and adverse effects then finally provide the- oretical foundation for tailored therapy. Breast cancer is a global health problem and its inci-dence has been increasing in recent years. CYP2D6 has proved to be one of pharmacogenet-ics factors of influencing the anti-breast cancer drug tamoxifen. This article reviews the vari-ance of genetic factors that contribute to the in-dividual difference of anti-breast cancer drugs re-sponse.