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Åke Borg

Åke Borg

Principal investigator

Åke Borg

Genomic footprints of activated telomere maintenance mechanisms in cancer


  • Lina Sieverling
  • Chen Hong
  • Sandra D Koser
  • Philip Ginsbach
  • Kortine Kleinheinz
  • Barbara Hutter
  • Delia M Braun
  • Isidro Cortés-Ciriano
  • Ruibin Xi
  • Rolf Kabbe
  • Peter J Park
  • Roland Eils
  • Matthias Schlesner
  • Benedikt Brors
  • Karsten Rippe
  • David T W Jones
  • Lars Feuerbach

Other contributions

  • Åke Borg
  • Markus Ringnér
  • Johan Staaf

Summary, in English

Cancers require telomere maintenance mechanisms for unlimited replicative potential. They achieve this through TERT activation or alternative telomere lengthening associated with ATRX or DAXX loss. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, we dissect whole-genome sequencing data of over 2500 matched tumor-control samples from 36 different tumor types aggregated within the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium to characterize the genomic footprints of these mechanisms. While the telomere content of tumors with ATRX or DAXX mutations (ATRX/DAXXtrunc) is increased, tumors with TERT modifications show a moderate decrease of telomere content. One quarter of all tumor samples contain somatic integrations of telomeric sequences into non-telomeric DNA. This fraction is increased to 80% prevalence in ATRX/DAXXtrunc tumors, which carry an aberrant telomere variant repeat (TVR) distribution as another genomic marker. The latter feature includes enrichment or depletion of the previously undescribed singleton TVRs TTCGGG and TTTGGG, respectively. Our systematic analysis provides new insight into the recurrent genomic alterations associated with telomere maintenance mechanisms in cancer.


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

Publishing year





Nature Communications



Document type

Journal article


Nature Publishing Group


  • Medical Genetics


  • Case-Control Studies
  • Co-Repressor Proteins/genetics
  • Genome, Human
  • Humans
  • Molecular Chaperones/genetics
  • Mutation
  • Neoplasms/genetics
  • RNA, Long Noncoding
  • Repetitive Sequences, Nucleic Acid
  • Telomerase/genetics
  • Telomere/genetics
  • Whole Genome Sequencing
  • X-linked Nuclear Protein/genetics



Research group

  • Familial Breast Cancer
  • Research Group Lung Cancer


  • ISSN: 2041-1723