文章：

人类癌蛋白的双重性：癌症和先天性疾病的驱动因素

The duality of human oncoproteins: drivers of cancer and congenital disorders

原文发布日期：2020-04-27

DOI: 10.1038/s41568-020-0256-z

类型: Review Article

开放获取: 否

英文摘要：

Human oncoproteins promote transformation of cells into tumours by dysregulating the signalling pathways that are involved in cell growth, proliferation and death. Although oncoproteins were discovered many years ago and have been widely studied in the context of cancer, the recent use of high-throughput sequencing techniques has led to the identification of cancer-associated mutations in other conditions, including many congenital disorders. These syndromes offer an opportunity to study oncoprotein signalling and its biology in the absence of additional driver or passenger mutations, as a result of their monogenic nature. Moreover, their expression in multiple tissue lineages provides insight into the biology of the proto-oncoprotein at the physiological level, in both transformed and unaffected tissues. Given the recent paradigm shift in regard to how oncoproteins promote transformation, we review the fundamentals of genetics, signalling and pathogenesis underlying oncoprotein duality.

摘要翻译： 

人类癌蛋白通过失调涉及细胞生长、增殖与死亡的信号通路，促使细胞转化为肿瘤。尽管癌蛋白早在多年前已被发现并在癌症研究中得到广泛探索，但近期高通量测序技术的应用揭示了包括多种先天性疾病在内的其他病症中也存在癌症相关突变。这些单基因遗传病综合征为研究癌蛋白信号传导及其生物学机制提供了独特视角，因其不存在额外的驱动性或伴随性基因突变。此外，癌蛋白在多种组织谱系中的表达，使人们能够在生理层面——包括癌变组织与未受影响组织——深入理解原癌蛋白的生物学功能。基于近期关于癌蛋白促癌转化机制的研究范式转变，本文将对癌蛋白双重性的遗传学基础、信号传导及致病机制进行系统性综述。

原文链接：

The duality of human oncoproteins: drivers of cancer and congenital disorders