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dc.contributor.authorAlvarez, Eva G.
dc.contributor.authorBaez-Ortega, Adrian
dc.contributor.authorZamora, Jorge
dc.contributor.authorSupek, Fran
dc.contributor.authorDemeulemeester, Jonas
dc.contributor.authorSantamarina, Martin
dc.contributor.authorTemes, Javier
dc.contributor.authorGarcia-Souto, Daniel
dc.contributor.authorDetering, Harald
dc.contributor.authorLi, Yilong
dc.contributor.authorRodriguez-Castro, Jorge
dc.contributor.authorDueso-Barroso, Ana
dc.contributor.authorBruzos, Alicia L.
dc.contributor.authorDentro, Stefan C.
dc.contributor.authorBlanco, Miguel G.
dc.contributor.authorContino, Gianmarco
dc.contributor.authorArdeljan, Daniel
dc.contributor.authorTojo, Marta
dc.contributor.authorZumalave, Sonia
dc.contributor.authorEdwards, Paul A. W.
dc.contributor.authorPuiggròs, Montserrat
dc.contributor.authorChong, Zechen
dc.contributor.authorLee, Eunjung Alice
dc.contributor.authorRaine, Keiran
dc.contributor.authorButler, Adam
dc.contributor.authorWaszak, Sebastian M.
dc.contributor.authorSchumacher, Steven E.
dc.contributor.authorMonlong, Jean
dc.contributor.authorMaura, Francesco
dc.contributor.authorBolli, Niccolo
dc.contributor.authorBourque, Guillaume
dc.contributor.authorGerstein, Mark
dc.contributor.authorWedge, David C.
dc.contributor.authorBeroukhim, Rameen
dc.contributor.authorTorrents, David
dc.contributor.authorMartincorena, Inigo
dc.contributor.authorFitzgerald, Rebecca C.
dc.contributor.authorVan Loo, Peter
dc.contributor.authorKazazian, Haig H.
dc.contributor.authorTubio, Jose M. C.
dc.contributor.authorAkdemir, Kadir C.
dc.contributor.authorBoutros, Paul C.
dc.contributor.authorBowtell, David D. L.
dc.contributor.authorBrors, Benedikt
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.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.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.authorJones, David T. W.
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, Jake June-Koo
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.authorRippe, Karsten
dc.contributor.authorRoberts, Nicola D.
dc.contributor.authorRoberts, Steven A.
dc.contributor.authorRodriguez-Martin, Bernardo
dc.contributor.authorScully, Ralph
dc.contributor.authorShackleton, Mark
dc.contributor.authorSidiropoulos, Nikos
dc.contributor.authorSieverling, Lina
dc.contributor.authorStewart, Chip
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.authorZhang, Cheng-Zhong
dc.date.accessioned2021-02-04T16:24:49Z
dc.date.available2021-02-04T16:24:49Z
dc.date.issued2020-02-05
dc.date.submitted2017-09-21
dc.identifier.issn1061-4036
dc.identifier.others41588-019-0562-0
dc.identifier.other562
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/317150
dc.descriptionFunder: Consellería de Cultura, Educación e Ordenación Universitaria, Xunta de Galicia (Ministry of Culture, Education and University Planning, Government of Galicia); doi: https://doi.org/10.13039/501100008425
dc.descriptionFunder: Ministerio de Educación, Cultura y Deporte (Ministry of Education, Culture and Sports, Spain); doi: https://doi.org/10.13039/501100003176
dc.descriptionFunder: EC | EU Framework Programme for Research and Innovation H2020 | H2020 Priority Excellent Science | H2020 European Research Council (H2020 Excellent Science - European Research Council); doi: https://doi.org/10.13039/100010663
dc.descriptionFunder: Ministerio de Economía y Competitividad (Ministry of Economy and Competitiveness); doi: https://doi.org/10.13039/501100003329
dc.descriptionFunder: Korea Health Industry Development Institute (KHIDI); doi: https://doi.org/10.13039/501100003710
dc.descriptionFunder: Danish Medical Research Council
dc.descriptionFunder: NIH
dc.descriptionFunder: Associazione Italiana Contro le Leucemie-Linfomi e Mieloma
dc.descriptionFunder: Cancer Research UK (CRUK); doi: https://doi.org/10.13039/501100000289
dc.description.abstractAbstract: About half of all cancers have somatic integrations of retrotransposons. Here, to characterize their role in oncogenesis, we analyzed the patterns and mechanisms of somatic retrotransposition in 2,954 cancer genomes from 38 histological cancer subtypes within the framework of the Pan-Cancer Analysis of Whole Genomes (PCAWG) project. We identified 19,166 somatically acquired retrotransposition events, which affected 35% of samples and spanned a range of event types. Long interspersed nuclear element (LINE-1; L1 hereafter) insertions emerged as the first most frequent type of somatic structural variation in esophageal adenocarcinoma, and the second most frequent in head-and-neck and colorectal cancers. Aberrant L1 integrations can delete megabase-scale regions of a chromosome, which sometimes leads to the removal of tumor-suppressor genes, and can induce complex translocations and large-scale duplications. Somatic retrotranspositions can also initiate breakage–fusion–bridge cycles, leading to high-level amplification of oncogenes. These observations illuminate a relevant role of L1 retrotransposition in remodeling the cancer genome, with potential implications for the development of human tumors.
dc.languageen
dc.publisherNature Publishing Group US
dc.rightsAttribution 4.0 International (CC BY 4.0)en
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en
dc.subjectArticle
dc.subject/692/699/67
dc.subject/631/208/212
dc.subject/45/23
dc.subject/45
dc.subjectarticle
dc.titlePan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition
dc.typeArticle
dc.date.updated2021-02-04T16:24:48Z
prism.endingPage319
prism.issueIdentifier3
prism.publicationNameNature Genetics
prism.startingPage306
prism.volume52
dc.identifier.doi10.17863/CAM.64261
dcterms.dateAccepted2019-11-26
rioxxterms.versionofrecord10.1038/s41588-019-0562-0
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidRodriguez-Martin, Bernardo [0000-0003-4693-3140]
dc.contributor.orcidSupek, Fran [0000-0002-7811-6711]
dc.contributor.orcidDemeulemeester, Jonas [0000-0002-2660-2478]
dc.contributor.orcidJu, Young Seok [0000-0002-5514-4189]
dc.contributor.orcidTemes, Javier [0000-0003-3370-4728]
dc.contributor.orcidGarcia-Souto, Daniel [0000-0002-0997-8799]
dc.contributor.orcidBlanco, Miguel G. [0000-0002-2883-7326]
dc.contributor.orcidArdeljan, Daniel [0000-0002-5593-421X]
dc.contributor.orcidRoberts, Nicola D. [0000-0002-0469-1043]
dc.contributor.orcidZumalave, Sonia [0000-0002-2108-1861]
dc.contributor.orcidEdwards, Paul A. W. [0000-0002-4789-3374]
dc.contributor.orcidWeischenfeldt, Joachim [0000-0002-3917-5524]
dc.contributor.orcidChen, Ken [0000-0003-4013-5279]
dc.contributor.orcidWala, Jeremiah A. [0000-0001-6591-1620]
dc.contributor.orcidRaine, Keiran [0000-0002-5634-1539]
dc.contributor.orcidWaszak, Sebastian M. [0000-0003-3042-9521]
dc.contributor.orcidNavarro, Fabio C. P. [0000-0002-5640-9070]
dc.contributor.orcidMonlong, Jean [0000-0002-9737-5516]
dc.contributor.orcidBourque, Guillaume [0000-0002-3933-9656]
dc.contributor.orcidPark, Peter J. [0000-0001-9378-960X]
dc.contributor.orcidKorbel, Jan O. [0000-0002-2798-3794]
dc.contributor.orcidFitzgerald, Rebecca C. [0000-0002-3434-3568]
dc.contributor.orcidVan Loo, Peter [0000-0003-0292-1949]
dc.contributor.orcidBurns, Kathleen H. [0000-0003-1620-3761]
dc.contributor.orcidCampbell, Peter J. [0000-0002-3921-0510]
dc.contributor.orcidTubio, Jose M. C. [0000-0003-3540-2459]
dc.contributor.orcidTubio, Jose M. C. [0000-0003-3540-2459]
dc.identifier.eissn1546-1718


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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)