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Åke Borg

Åke Borg

Principal investigator

Åke Borg

The landscape of viral associations in human cancers

Author

  • Marc Zapatka
  • Ivan Borozan
  • Daniel S Brewer
  • Murat Iskar
  • Adam Grundhoff
  • Malik Alawi
  • Nikita Desai
  • Holger Sültmann
  • Holger Moch
  • Colin S Cooper
  • Roland Eils
  • Vincent Ferretti
  • Peter Lichter
Show all

Other contributions

  • Åke Borg
  • Markus Ringnér
  • Johan Staaf

Summary, in English

Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, for which whole-genome and-for a subset-whole-transcriptome sequencing data from 2,658 cancers across 38 tumor types was aggregated, we systematically investigated potential viral pathogens using a consensus approach that integrated three independent pipelines. Viruses were detected in 382 genome and 68 transcriptome datasets. We found a high prevalence of known tumor-associated viruses such as Epstein-Barr virus (EBV), hepatitis B virus (HBV) and human papilloma virus (HPV; for example, HPV16 or HPV18). The study revealed significant exclusivity of HPV and driver mutations in head-and-neck cancer and the association of HPV with APOBEC mutational signatures, which suggests that impaired antiviral defense is a driving force in cervical, bladder and head-and-neck carcinoma. For HBV, HPV16, HPV18 and adeno-associated virus-2 (AAV2), viral integration was associated with local variations in genomic copy numbers. Integrations at the TERT promoter were associated with high telomerase expression evidently activating this tumor-driving process. High levels of endogenous retrovirus (ERV1) expression were linked to a worse survival outcome in patients with kidney cancer.

Department/s

  • LUCC: Lund University Cancer Centre
  • Familial Breast Cancer
  • Breastcancer-genetics
  • Molecular Cell Biology
  • Breast/lungcancer
  • Division of Translational Cancer Research
  • Research Group Lung Cancer

Publishing year

2020-03

Language

English

Pages

320-330

Publication/Series

Nature Genetics

Volume

52

Issue

3

Document type

Journal article

Publisher

Nature Publishing Group

Topic

  • Medical Genetics

Keywords

  • DNA Copy Number Variations
  • DNA Tumor Viruses/genetics
  • Genome, Human/genetics
  • Hepatitis B virus/genetics
  • Herpesvirus 4, Human/genetics
  • Humans
  • Mutation
  • Neoplasms/genetics
  • Papillomavirus Infections/genetics
  • Promoter Regions, Genetic/genetics
  • Telomerase/genetics
  • Transcriptome
  • Tumor Virus Infections/virology
  • Virus Integration

Status

Published

Research group

  • Familial Breast Cancer
  • Research Group Lung Cancer

ISBN/ISSN/Other

  • ISSN: 1546-1718