Evolution and Cancer Laboratory, Barts Cancer Institute, Queen Mary University of London, London EC1M 6BQ, United Kingdom; email:
Evolutionary Genomics and Modelling Lab, Centre for Evolution and Cancer, The Institute of Cancer Research, London SM2 5NG, United Kingdom.
Annu Rev Genomics Hum Genet. 2019 Aug 31;20:309-329. doi: 10.1146/annurev-genom-083117-021712. Epub 2019 May 5.
Cancers originate from somatic cells in the human body that have accumulated genetic alterations. These mutations modify the phenotype of the cells, allowing them to escape the homeostatic regulation that maintains normal cell number. Viewed through the lens of evolutionary biology, the transformation of normal cells into malignant cells is evolution in action. Evolution continues throughout cancer growth, progression, treatment resistance, and disease relapse, driven by adaptation to changes in the cancer's environment, and intratumor heterogeneity is an inevitable consequence of this evolutionary process. Genomics provides a powerful means to characterize tumor evolution, enabling quantitative measurement of evolving clones across space and time. In this review, we discuss concepts and approaches to quantify and measure this evolutionary process in cancer using genomics.
癌症起源于人体的体细胞,这些体细胞积累了遗传改变。这些突变改变了细胞的表型,使它们能够逃脱维持正常细胞数量的体内平衡调节。从进化生物学的角度来看,正常细胞向恶性细胞的转化就是进化在起作用。随着癌症环境的变化和肿瘤内异质性的发生,进化继续在癌症的生长、进展、治疗耐药和疾病复发中起作用,这是适应的结果。基因组学为描述肿瘤进化提供了一种强大的手段,能够定量测量肿瘤在空间和时间上的进化克隆。在这篇综述中,我们讨论了使用基因组学来量化和测量癌症中这一进化过程的概念和方法。