Mutations in regulators of the epigenome and their connections to global chromatin patterns in cancer

Nat Rev Genet. 2013 Nov;14(11):765-80. doi: 10.1038/nrg3554. Epub 2013 Oct 9.


Malignancies are characterized by extensive global reprogramming of epigenetic patterns, including gains or losses in DNA methylation and changes to histone marks. Furthermore, high-resolution genome-sequencing efforts have discovered a wealth of mutations in genes encoding epigenetic regulators that have roles as 'writers', 'readers' or 'editors' of DNA methylation and/or chromatin states. In this Review, we discuss how these mutations have the potential to deregulate hundreds of targeted genes genome wide. Elucidating these networks of epigenetic factors will provide mechanistic understanding of the interplay between genetic and epigenetic alterations, and will inform novel therapeutic strategies.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chromatin*
  • Computational Biology
  • DNA Methylation
  • Epigenesis, Genetic*
  • Genes, Regulator*
  • Genome*
  • Histones / genetics
  • Histones / metabolism
  • Humans
  • Mutation*
  • Neoplasm Proteins / genetics*
  • Neoplasm Proteins / metabolism
  • Neoplasms / genetics*
  • Neoplasms / metabolism


  • Chromatin
  • Histones
  • Neoplasm Proteins