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Resolving genetic heterogeneity in cancer by Turajlic, Graham, and Swanton et al 2019

Is cancer a special case of evolution?

Subclones * subpopulations of cells within a tumor distinguished by genetic alterations and growth rates

asexual evolution

  • replication
  • heritable variation
  • genetic drift
  • selection

Current models of tumor evolution

Selection

Branching evolution

Linear evolution

Neutral evolution

Punctuated evolution

Inferring evolutionary mode with genomics

Bulk sequencing

Choice of sequencing assay

Allelic copy number correction

Single-cell sequencing

Detecting selection

Using clone frequency to detect selection

Using mutational patterns to detect selection

Stochasticity versus determinism

Chromosome instability in cancer evolution

CIN and clonal fitness

CIN and metastasis

CIN and clinical outcomes

Evolutionary patterns and patient outcomes

Clonal diversity and clinical outcomes

Punctuated versus gradual evolution and clinical outcomes

Origin of treatment-resistant clones

Resistance to targeted therapies

Resistance to immune checkpoint inhibition

Conclusions and perspective

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