文章：

癌症蛋白质基因组学：当前影响和未来展望

Cancer proteogenomics: current impact and future prospects

原文发布日期：2022-03-02

DOI: 10.1038/s41568-022-00446-5

类型: Review Article

开放获取: 否

英文摘要：

Genomic analyses in cancer have been enormously impactful, leading to the identification of driver mutations and development of targeted therapies. But the functions of the vast majority of somatic mutations and copy number variants in tumours remain unknown, and the causes of resistance to targeted therapies and methods to overcome them are poorly defined. Recent improvements in mass spectrometry-based proteomics now enable direct examination of the consequences of genomic aberrations, providing deep and quantitative characterization of tumour tissues. Integration of proteins and their post-translational modifications with genomic, epigenomic and transcriptomic data constitutes the new field of proteogenomics, and is already leading to new biological and diagnostic knowledge with the potential to improve our understanding of malignant transformation and therapeutic outcomes. In this Review we describe recent developments in proteogenomics and key findings from the proteogenomic analysis of a wide range of cancers. Considerations relevant to the selection and use of samples for proteogenomics and the current technologies used to generate, analyse and integrate proteomic with genomic data are described. Applications of proteogenomics in translational studies and immuno-oncology are rapidly emerging, and the prospect for their full integration into therapeutic trials and clinical care seems bright.

摘要翻译： 

癌症的基因组分析影响深远，推动了驱动突变的识别和靶向疗法的研发。然而，肿瘤中绝大多数体细胞突变与拷贝数变异的功能仍属未知，靶向治疗耐药的原因及其克服手段亦不明确。基于质谱的蛋白质组学技术近期取得进展，使得能够直接检测基因组畸变的后果，实现对肿瘤组织的深度定量表征。将蛋白质及其翻译后修饰与基因组、表观基因组和转录组数据整合，形成了新兴的蛋白质组基因组学领域，这一交叉学科已催生出新的生物学认知和诊断知识，有望深化我们对恶性转化和治疗结局的理解。本文综述了蛋白质组基因组学的最新进展，以及对多种癌症进行蛋白质组基因组分析取得的关键发现，探讨了蛋白质组基因组学研究中选择和使用样本的考量因素，以及当前用于生成、分析并整合蛋白质组与基因组数据的技术。蛋白质组基因组学在转化研究和免疫肿瘤学中的应用正迅速兴起，其全面整合至治疗试验与临床护理的前景光明。

原文链接：

Cancer proteogenomics: current impact and future prospects