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Genomic footprints ...
Genomic footprints of activated telomere maintenance mechanisms in cancer
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- Sieverling, Lina (author)
- German Cancer Research Centre
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- Hong, Chen (author)
- German Cancer Research Centre
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- Koser, Sandra D (author)
- German Cancer Research Centre
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- Ginsbach, Philip (author)
- German Cancer Research Centre
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- Kleinheinz, Kortine (author)
- German Cancer Research Centre
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- Hutter, Barbara (author)
- German Cancer Research Centre
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- Braun, Delia M (author)
- Heidelberg University
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- Cortés-Ciriano, Isidro (author)
- Harvard Medical School
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- Xi, Ruibin (author)
- Peking University
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- Kabbe, Rolf (author)
- German Cancer Research Centre
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- Park, Peter J (author)
- Harvard Medical School
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- Eils, Roland (author)
- German Cancer Research Centre
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- Schlesner, Matthias (author)
- German Cancer Research Centre
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- Brors, Benedikt (author)
- German Cancer Research Centre
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- Rippe, Karsten (author)
- BioQuant,German Cancer Research Centre
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- Jones, David T W (author)
- Hopp Children’s Cancer Center Heidelberg (KiTZ)
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- Feuerbach, Lars (author)
- German Cancer Research Centre
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- Borg, Åke (creator_code:cre_t)
- Lund 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
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- Ringnér, Markus (creator_code:cre_t)
- Lund University,Lunds universitet,Molekylär cellbiologi,Biologiska institutionen,Naturvetenskapliga fakulteten,Molecular Cell Biology,Department of Biology,Faculty of Science
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- Staaf, Johan (creator_code:cre_t)
- Lund 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
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(creator_code:org_t)
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- 2020-02-05
- 2020
- English 13 s.
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11
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Abstract
Subject headings
Close
- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- 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
Publication and Content Type
- art (subject category)
- ref (subject category)
Find in a library
To the university's database
- By the author/editor
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Sieverling, Lina
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Hong, Chen
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Koser, Sandra D
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Ginsbach, Philip
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Kleinheinz, Kort ...
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Hutter, Barbara
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show more...
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Braun, Delia M
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Cortés-Ciriano, ...
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Xi, Ruibin
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Kabbe, Rolf
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Park, Peter J
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Eils, Roland
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Schlesner, Matth ...
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Brors, Benedikt
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Rippe, Karsten
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Jones, David T W
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Feuerbach, Lars
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Borg, Åke
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Ringnér, Markus
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Staaf, Johan
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Nature Communica ...
- By the university
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Lund University
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Karolinska Institutet