Transposable elements in cancer

Nat Rev Cancer. 2017 Jul;17(7):415-424. doi: 10.1038/nrc.2017.35. Epub 2017 Jun 9.


Transposable elements give rise to interspersed repeats, sequences that comprise most of our genomes. These mobile DNAs have been historically underappreciated - both because they have been presumed to be unimportant, and because their high copy number and variability pose unique technical challenges. Neither impediment now seems steadfast. Interest in the human mobilome has never been greater, and methods enabling its study are maturing at a fast pace. This Review describes the activity of transposable elements in human cancers, particularly long interspersed element-1 (LINE-1). LINE-1 sequences are self-propagating, protein-coding retrotransposons, and their activity results in somatically acquired insertions in cancer genomes. Altered expression of transposable elements and animation of genomic LINE-1 sequences appear to be hallmarks of cancer, and can be responsible for driving mutations in tumorigenesis.

Publication types

  • Review

MeSH terms

  • Cell Transformation, Neoplastic / genetics*
  • DNA Transposable Elements*
  • Humans
  • Long Interspersed Nucleotide Elements / genetics*
  • Minisatellite Repeats / genetics
  • Neoplasms / genetics*
  • Open Reading Frames / genetics*
  • Promoter Regions, Genetic / genetics
  • RNA / genetics
  • Short Interspersed Nucleotide Elements / genetics
  • Terminal Repeat Sequences / genetics


  • DNA Transposable Elements
  • RNA