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预测肿瘤治疗反应的药物基因组学:聚焦于ATP结合盒转运蛋白和细胞色素P450

Pharmacogenomics to Predict Tumor Therapy Response: A Focus on ATP-Binding Cassette Transporters and Cytochromes P450.

作者信息

Hlaváč Viktor, Holý Petr, Souček Pavel

机构信息

Toxicogenomics Unit, National Institute of Public Health, 100 00 Prague, Czech Republic.

Laboratory of Pharmacogenomics, Biomedical Center, Faculty of Medicine in Pilsen, Charles University, 306 05 Pilsen, Czech Republic.

出版信息

J Pers Med. 2020 Aug 28;10(3):108. doi: 10.3390/jpm10030108.

Abstract

Pharmacogenomics is an evolving tool of precision medicine. Recently, due to the introduction of next-generation sequencing and projects generating "Big Data", a plethora of new genetic variants in pharmacogenes have been discovered. Cancer resistance is a major complication often preventing successful anticancer treatments. Pharmacogenomics of both somatic mutations in tumor cells and germline variants may help optimize targeted treatments and improve the response to conventional oncological therapy. In addition, integrative approaches combining copy number variations and long noncoding RNA profiling with germline and somatic variations seem to be a promising approach as well. In pharmacology, expression and enzyme activity are traditionally the more studied aspects of ATP-binding cassette transporters and cytochromes P450. In this review, we briefly introduce the field of pharmacogenomics and the advancements driven by next-generation sequencing and outline the possible roles of genetic variation in the two large pharmacogene superfamilies. Although the evidence needs further substantiation, somatic and copy number variants as well as rare variants and common polymorphisms in these genes could all affect response to cancer therapy. Regulation by long noncoding RNAs has also been shown to play a role. However, in all these areas, more comprehensive studies on larger sets of patients are needed.

摘要

药物基因组学是精准医学中不断发展的工具。最近,由于新一代测序技术的引入以及产生“大数据”的项目,在药物基因中发现了大量新的基因变异。癌症耐药性是经常阻碍抗癌治疗成功的主要并发症。肿瘤细胞中体细胞突变和种系变异的药物基因组学可能有助于优化靶向治疗并改善对传统肿瘤治疗的反应。此外,将拷贝数变异和长链非编码RNA分析与种系和体细胞变异相结合的综合方法似乎也是一种很有前景的方法。在药理学中,传统上对ATP结合盒转运蛋白和细胞色素P450的表达和酶活性研究较多。在本综述中,我们简要介绍药物基因组学领域以及由新一代测序推动的进展,并概述两个大型药物基因超家族中基因变异的可能作用。尽管证据需要进一步证实,但这些基因中的体细胞和拷贝数变异以及罕见变异和常见多态性都可能影响癌症治疗反应。长链非编码RNA的调控也已被证明发挥作用。然而,在所有这些领域,都需要对更多患者进行更全面的研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fd6c/7565825/c90b58148d6d/jpm-10-00108-g001.jpg

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