Pharmacogenomics, the study of how genetic variations influence drug response, has become integral to cancer treatment as personalized medicine evolves. This review aims to explore key pharmacogenomic biomarkers relevant to cancer therapy and their clinical implications, providing an updated and comprehensive perspective on how genetic variations impact drug metabolism, efficacy, and toxicity in oncology. Genetic heterogeneity among oncology patients significantly impacts drug efficacy and toxicity, emphasizing the importance of incorporating pharmacogenomic testing into clinical practice. Genes such asCYP2D6,DPYD,UGT1A1,TPMT,EGFR, KRAS, andBRCA1/2play pivotal roles in influencing the metabolism, efficacy, and adverse effects of various chemotherapeutic agents, targeted therapies, and immunotherapies. For example,CYP2D6polymorphisms affect tamoxifen metabolism in breast cancer, whileDPYDvariants can result in severe toxicities in patients receiving fluoropyrimidines. Mutations inEGFRandKRAShave significant implications for the use of targeted therapies in lung and colorectal cancers, respectively. Additionally,BRCA1/2mutations predict the efficacy of PARP inhibitors in breast and ovarian cancer. Ongoing research in polygenic risk scores, liquid biopsies, gene–drug interaction networks, and immunogenomics promises to further refine pharmacogenomic applications, improving patient outcomes and reducing treatment-related adverse events. This review also discusses the challenges and future directions in pharmacogenomics, including the integration of computational models and CRISPR-based gene editing to better understand gene–drug interactions and resistance mechanisms. The clinical implementation of pharmacogenomics has the potential to optimize cancer treatment by tailoring therapies to an individual’s genetic profile, ultimately enhancing therapeutic efficacy and minimizing toxicity.
随着个体化医疗的发展，研究遗传变异如何影响药物反应的药物基因组学已成为癌症治疗不可或缺的组成部分。本综述旨在探讨与癌症治疗相关的关键药物基因组学生物标志物及其临床意义，就遗传变异如何影响肿瘤学中的药物代谢、疗效和毒性提供最新且全面的视角。肿瘤患者的遗传异质性显著影响药物疗效和毒性，凸显了将药物基因组学检测纳入临床实践的重要性。CYP2D6、DPYD、UGT1A1、TPMT、EGFR、KRAS及BRCA1/2等基因在影响各类化疗药物、靶向治疗和免疫治疗的代谢、疗效及不良反应方面发挥着关键作用。例如，CYP2D6多态性影响乳腺癌中他莫昔芬的代谢，而DPYD变异可导致接受氟嘧啶治疗的患者出现严重毒性。EGFR和KRAS突变分别对肺癌和结直肠癌的靶向治疗应用具有重要影响。此外，BRCA1/2突变可预测PARP抑制剂在乳腺癌和卵巢癌中的疗效。当前在多基因风险评分、液体活检、基因-药物相互作用网络及免疫基因组学等领域的研究，有望进一步完善药物基因组学的应用，从而改善患者预后并减少治疗相关不良事件。本综述还探讨了药物基因组学面临的挑战及未来发展方向，包括整合计算模型和基于CRISPR的基因编辑技术，以更深入理解基因-药物相互作用及耐药机制。药物基因组学的临床实施有望通过根据个体遗传特征定制治疗方案来优化癌症治疗，最终提高疗效并降低毒性。
肿瘤(癌症)患者之家