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  • Sieverling, LinaGerman Cancer Research Centre (author)

Genomic footprints of activated telomere maintenance mechanisms in cancer

  • Article/chapterEnglish2020

Publisher, publication year, extent ...

  • 2020-02-05
  • Springer Science and Business Media LLC,2020
  • 13 s.

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:849ffdea-c3b6-4e87-9f82-a38a5ad676fd
  • https://lup.lub.lu.se/record/849ffdea-c3b6-4e87-9f82-a38a5ad676fdURI
  • https://doi.org/10.1038/s41467-019-13824-9DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:143041201URI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • 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.

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Added entries (persons, corporate bodies, meetings, titles ...)

  • Hong, ChenGerman Cancer Research Centre (author)
  • Koser, Sandra DGerman Cancer Research Centre (author)
  • Ginsbach, PhilipGerman Cancer Research Centre (author)
  • Kleinheinz, KortineGerman Cancer Research Centre (author)
  • Hutter, BarbaraGerman Cancer Research Centre (author)
  • Braun, Delia MHeidelberg University (author)
  • Cortés-Ciriano, IsidroHarvard Medical School (author)
  • Xi, RuibinPeking University (author)
  • Kabbe, RolfGerman Cancer Research Centre (author)
  • Park, Peter JHarvard Medical School (author)
  • Eils, RolandGerman Cancer Research Centre (author)
  • Schlesner, MatthiasGerman Cancer Research Centre (author)
  • Brors, BenediktGerman Cancer Research Centre (author)
  • Rippe, KarstenBioQuant,German Cancer Research Centre (author)
  • Jones, David T WHopp Children’s Cancer Center Heidelberg (KiTZ) (author)
  • Feuerbach, LarsGerman Cancer Research Centre (author)
  • Borg, ÅkeLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Familjär bröstcancer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Familial Breast Cancer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments(Swepub:lu)onk-abo (creator_code:cre_t)
  • Ringnér, MarkusLund University,Lunds universitet,Molekylär cellbiologi,Biologiska institutionen,Naturvetenskapliga fakulteten,Molecular Cell Biology,Department of Biology,Faculty of Science(Swepub:lu)thep-mri (creator_code:cre_t)
  • Staaf, JohanLund University,Lunds universitet,Forskningsgrupp Lungcancer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Bröst/lungcancer,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Research Group Lung Cancer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Breast/lungcancer,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)onk-jst (creator_code:cre_t)
  • German Cancer Research CentreHeidelberg University (creator_code:org_t)
  • PCAWG Consortium
  • PCAWG-Structural Variation Working Group

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  • In:Nature Communications: Springer Science and Business Media LLC112041-1723

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