闫溢洋, 黄敏. 肿瘤基因组学研究与肿瘤精准治疗J. 药学学报, 2023, 58(8): 2070-2084. DOI: 10.16438/j.0513-4870.2022-0943
引用本文: 闫溢洋, 黄敏. 肿瘤基因组学研究与肿瘤精准治疗J. 药学学报, 2023, 58(8): 2070-2084. DOI: 10.16438/j.0513-4870.2022-0943
YAN Yi-yang, HUANG Min. Cancer genomics and precision medicineJ. Acta Pharmaceutica Sinica, 2023, 58(8): 2070-2084. DOI: 10.16438/j.0513-4870.2022-0943
Citation: YAN Yi-yang, HUANG Min. Cancer genomics and precision medicineJ. Acta Pharmaceutica Sinica, 2023, 58(8): 2070-2084. DOI: 10.16438/j.0513-4870.2022-0943

肿瘤基因组学研究与肿瘤精准治疗

Cancer genomics and precision medicine

  • 摘要: 肿瘤是一种基因疾病的认识, 最早可以追溯到一个世纪前。近年来, 得益于高通量测序和生物信息技术的不断发展创新, 肿瘤基因组研究取得了显著的进展。肿瘤发生发展过程中发挥重要作用的多种遗传改变被不断阐明, 为抗肿瘤药物研发带来了新的机会。特别重要的是, 肿瘤基因组研究的突破, 直接催生了当前发展迅猛的肿瘤精准治疗, 显著提升了肿瘤药物治疗的临床获益, 并推动肿瘤药物治疗进入新时代。本文总结了肿瘤基因组异常的主要表现形式, 举例阐明了功能基因组研究在肿瘤研究中的主要应用, 特别关注了肿瘤基因组学研究在临床诊断、新药研发及肿瘤精准治疗方面的应用, 旨在深入理解基因组导向的肿瘤精准医疗, 并对未来的发展提出思考与展望。

     

    Abstract: It has been noted for decades that cancer is essentially a genomic disease. Benefiting from the latest development of high-throughput sequencing and bioinformatics technologies, a variety of genetic alterations have been identified for their roles in cancer occurrence and development, giving rise to new opportunities for anti-cancer drug discovery. In particular, the rapid advancement of cancer genomics has paved the way for the precision medicine that has gained compelling achievement in the past years and significantly benefited cancer patients. In this review, we summarize the main types of genomic abnormalities in cancer, the application of functional genomics research in cancer research, and in particular the translational application of cancer genomics in clinical diagnosis, drug discovery and cancer precision medicine. With this review, we hope to better understand cancer genomics research and provide future perspectives for its application in precision medicine.

     

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