From Mutational Mechanisms in Single Cells to Mutational Patterns in Cancer Genomes

  1. David Pellman1,3,4,5
  1. 1Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts 02215
  2. 2Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts 02215
  3. 3Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115
  4. 4Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142
  5. 5Howard Hughes Medical Institute, Boston, Massachusetts 02115
  1. Correspondence: chengz{at}broadinstitute.org; david_pellman{at}dfci.harvard.edu

Abstract

Analysis of mutations in thousands of cancer genomes has revealed many characteristic patterns of mutagenesis. The search for the molecular mechanisms underlying these mutational patterns has not only generated novel biological insight but also led to the development of new experimental strategies to study cell-to-cell variation and genome evolution. In this essay, we discuss recent progress in the study of mutational mechanisms with a particular emphasis on the analysis of mutagenesis at the single-cell level.

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