Genome-wide analysis of HPV integration in human cancers reveals recurrent, focal genomic instability

Genome Res. 2014 Feb;24(2):185-99. doi: 10.1101/gr.164806.113. Epub 2013 Nov 7.

Abstract

Genomic instability is a hallmark of human cancers, including the 5% caused by human papillomavirus (HPV). Here we report a striking association between HPV integration and adjacent host genomic structural variation in human cancer cell lines and primary tumors. Whole-genome sequencing revealed HPV integrants flanking and bridging extensive host genomic amplifications and rearrangements, including deletions, inversions, and chromosomal translocations. We present a model of "looping" by which HPV integrant-mediated DNA replication and recombination may result in viral-host DNA concatemers, frequently disrupting genes involved in oncogenesis and amplifying HPV oncogenes E6 and E7. Our high-resolution results shed new light on a catastrophic process, distinct from chromothripsis and other mutational processes, by which HPV directly promotes genomic instability.

Publication types

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

MeSH terms

  • DNA Replication / genetics*
  • DNA, Viral / genetics
  • Female
  • Genomic Instability*
  • Human papillomavirus 16 / genetics*
  • Human papillomavirus 16 / growth & development
  • Humans
  • Male
  • Neoplasms / classification
  • Neoplasms / genetics*
  • Neoplasms / pathology
  • Neoplasms / virology
  • Oncogene Proteins, Viral / genetics
  • Oncogene Proteins, Viral / metabolism
  • Papillomavirus E7 Proteins / genetics
  • Papillomavirus E7 Proteins / metabolism
  • Repressor Proteins / genetics
  • Repressor Proteins / metabolism
  • Virus Integration / genetics

Substances

  • DNA, Viral
  • E6 protein, Human papillomavirus type 16
  • Oncogene Proteins, Viral
  • Papillomavirus E7 Proteins
  • Repressor Proteins
  • oncogene protein E7, Human papillomavirus type 16