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dc.contributor.authorHong, Chen
dc.contributor.authorKoser, Sandra D.
dc.contributor.authorGinsbach, Philip
dc.contributor.authorKleinheinz, Kortine
dc.contributor.authorBraun, Delia M.
dc.contributor.authorXi, Ruibin
dc.contributor.authorKabbe, Rolf
dc.contributor.authorEils, Roland
dc.contributor.authorSchlesner, Matthias
dc.contributor.authorBrors, Benedikt
dc.contributor.authorJones, David T. W.
dc.contributor.authorAkdemir, Kadir C.
dc.contributor.authorAlvarez, Eva G.
dc.contributor.authorBaez-Ortega, Adrian
dc.contributor.authorBeroukhim, Rameen
dc.contributor.authorBoutros, Paul C.
dc.contributor.authorBowtell, David D. L.
dc.contributor.authorBurns, Kathleen H.
dc.contributor.authorCampbell, Peter J.
dc.contributor.authorChan, Kin
dc.contributor.authorChen, Ken
dc.contributor.authorCortés-Ciriano, Isidro
dc.contributor.authorDueso-Barroso, Ana
dc.contributor.authorDunford, Andrew J.
dc.contributor.authorEdwards, Paul A.
dc.contributor.authorEstivill, Xavier
dc.contributor.authorEtemadmoghadam, Dariush
dc.contributor.authorFeuerbach, Lars
dc.contributor.authorFink, J. Lynn
dc.contributor.authorFrenkel-Morgenstern, Milana
dc.contributor.authorGarsed, Dale W.
dc.contributor.authorGerstein, Mark
dc.contributor.authorGordenin, Dmitry A.
dc.contributor.authorHaan, David
dc.contributor.authorHaber, James E.
dc.contributor.authorHess, Julian M.
dc.contributor.authorHutter, Barbara
dc.contributor.authorImielinski, Marcin
dc.contributor.authorJu, Young Seok
dc.contributor.authorKazanov, Marat D.
dc.contributor.authorKlimczak, Leszek J.
dc.contributor.authorKoh, Youngil
dc.contributor.authorKorbel, Jan O.
dc.contributor.authorKumar, Kiran
dc.contributor.authorLee, Eunjung Alice
dc.contributor.authorLee, Jake June-Koo
dc.contributor.authorLi, Yilong
dc.contributor.authorLynch, Andy G.
dc.contributor.authorMacintyre, Geoff
dc.contributor.authorMarkowetz, Florian
dc.contributor.authorMartincorena, Iñigo
dc.contributor.authorMartinez-Fundichely, Alexander
dc.contributor.authorMeyerson, Matthew
dc.contributor.authorMiyano, Satoru
dc.contributor.authorNakagawa, Hidewaki
dc.contributor.authorNavarro, Fabio C. P.
dc.contributor.authorOssowski, Stephan
dc.contributor.authorPark, Peter J.
dc.contributor.authorPearson, John V.
dc.contributor.authorPuiggròs, Montserrat
dc.contributor.authorRippe, Karsten
dc.contributor.authorRoberts, Nicola D.
dc.contributor.authorRoberts, Steven A.
dc.contributor.authorRodriguez-Martin, Bernardo
dc.contributor.authorSchumacher, Steven E.
dc.contributor.authorScully, Ralph
dc.contributor.authorShackleton, Mark
dc.contributor.authorSidiropoulos, Nikos
dc.contributor.authorSieverling, Lina
dc.contributor.authorStewart, Chip
dc.contributor.authorTorrents, David
dc.contributor.authorTubio, Jose M. C.
dc.contributor.authorVillasante, Izar
dc.contributor.authorWaddell, Nicola
dc.contributor.authorWala, Jeremiah A.
dc.contributor.authorWeischenfeldt, Joachim
dc.contributor.authorYang, Lixing
dc.contributor.authorYao, Xiaotong
dc.contributor.authorYoon, Sung-Soo
dc.contributor.authorZamora, Jorge
dc.contributor.authorZhang, Cheng-Zhong
dc.date.accessioned2021-02-04T16:23:35Z
dc.date.available2021-02-04T16:23:35Z
dc.date.issued2020-02-05
dc.date.submitted2017-11-22
dc.identifier.others41467-019-13824-9
dc.identifier.other13824
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/317139
dc.description.abstractAbstract: 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.
dc.languageen
dc.publisherNature Publishing Group UK
dc.rightsAttribution 4.0 International (CC BY 4.0)en
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en
dc.subjectArticle
dc.subject/631/67/69
dc.subject/631/114
dc.subject/692/4028/67
dc.subject/45
dc.subjectarticle
dc.titleGenomic footprints of activated telomere maintenance mechanisms in cancer
dc.typeArticle
dc.date.updated2021-02-04T16:23:35Z
prism.issueIdentifier1
prism.publicationNameNature Communications
prism.volume11
dc.identifier.doi10.17863/CAM.64250
dcterms.dateAccepted2019-11-26
rioxxterms.versionofrecord10.1038/s41467-019-13824-9
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidSieverling, Lina [0000-0002-0595-4976]
dc.contributor.orcidHong, Chen [0000-0003-1244-3506]
dc.contributor.orcidHutter, Barbara [0000-0002-9034-0329]
dc.contributor.orcidBraun, Delia M. [0000-0002-6059-7588]
dc.contributor.orcidCortés-Ciriano, Isidro [0000-0002-2036-494X]
dc.contributor.orcidXi, Ruibin [0000-0001-7545-7361]
dc.contributor.orcidPark, Peter J. [0000-0001-9378-960X]
dc.contributor.orcidSchlesner, Matthias [0000-0002-5896-4086]
dc.contributor.orcidRippe, Karsten [0000-0001-9951-9395]
dc.identifier.eissn2041-1723
pubs.funder-project-idDeutsche Forschungsgemeinschaft (German Research Foundation) (Br3535/1-2)
pubs.funder-project-idEC | Horizon 2020 (Horizon 2020 - Research and Innovation Framework Programme) (703543)
pubs.funder-project-idBundesministerium für Bildung und Forschung (Federal Ministry of Education and Research) (01ZX1302, 01KU1001A, -B, -C, and -D, 01KU1505A)


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Attribution 4.0 International (CC BY 4.0)
Except where otherwise noted, this item's licence is described as Attribution 4.0 International (CC BY 4.0)