Measuring Clonal Evolution in Cancer with Genomics

Annu Rev Genomics Hum Genet. 2019 Aug 31:20:309-329. doi: 10.1146/annurev-genom-083117-021712. Epub 2019 May 5.

Abstract

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.

Keywords: cancer; evolution; genomics; population genetics.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Clonal Evolution*
  • Genomics / methods*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Models, Genetic
  • Mutation*
  • Neoplasms / genetics*
  • Neoplasms / physiopathology
  • Sequence Analysis, DNA