Proteogenomics refers to the integration of comprehensive genomic, transcriptomic, and proteomic measurements from the same samples with the goal of fully understanding the regulatory processes converting genotypes to phenotypes, often with an emphasis on gaining a deeper understanding of disease processes. Although specific genetic mutations have long been known to drive the development of multiple cancers, gene mutations alone do not always predict prognosis or response to targeted therapy. The benefit of proteogenomics research is that information obtained from proteins and their corresponding pathways provides insight into therapeutic targets that can complement genomic information by providing an additional dimension regarding the underlying mechanisms and pathophysiology of tumors. This review describes the novel insights into tumor biology and drug resistance derived from proteogenomic analysis while highlighting the clinical potential of proteogenomic observations and advances in technique and analysis tools.

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基于质谱的蛋白质基因组学：精准医学的新治疗机会

蛋白质基因组学是指对同一样本进行全面的基因组学、转录组学和蛋白质组学测量的整合，其目标是充分了解将基因型转化为表型的调控过程，通常侧重于更深入地了解疾病过程。尽管长期以来已知特定的基因突变会驱动多种癌症的发展，但基因突变本身并不总能预测预后或对靶向治疗的反应。蛋白质基因组学研究的好处在于，从蛋白质及其相应途径获得的信息可以深入了解治疗靶点，通过提供有关肿瘤潜在机制和病理生理学的额外维度来补充基因组信息。这篇综述描述了从蛋白质组学分析中得出的对肿瘤生物学和耐药性的新见解，同时强调了蛋白质组学观察的临床潜力以及技术和分析工具的进步。