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dc.contributor.authorRodriguez-Martin, Bernardo
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.authorJu, Young Seok
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.authorRoberts, Nicola D
dc.contributor.authorZumalave, Sonia
dc.contributor.authorEdwards, Paul
dc.contributor.authorWeischenfeldt, Joachim
dc.contributor.authorPuiggròs, Montserrat
dc.contributor.authorChong, Zechen
dc.contributor.authorChen, Ken
dc.contributor.authorLee, Eunjung Alice
dc.contributor.authorWala, Jeremiah A
dc.contributor.authorRaine, Keiran
dc.contributor.authorButler, Adam
dc.contributor.authorWaszak, Sebastian M
dc.contributor.authorNavarro, Fabio CP
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.authorPark, Peter J
dc.contributor.authorWedge, David C
dc.contributor.authorBeroukhim, Rameen
dc.contributor.authorTorrents, David
dc.contributor.authorKorbel, Jan O
dc.contributor.authorMartincorena, Inigo
dc.contributor.authorFitzgerald, Rebecca
dc.contributor.authorVan Loo, Peter
dc.contributor.authorKazazian, Haig H
dc.contributor.authorBurns, Kathleen H
dc.contributor.authorPCAWG Structural Variation Working Group
dc.contributor.authorCampbell, Peter J
dc.contributor.authorTubio, Jose MC
dc.contributor.authorPCAWG Consortium
dc.date.accessioned2019-01-15T00:30:42Z
dc.date.available2019-01-15T00:30:42Z
dc.date.issued2020-03
dc.identifier.issn1061-4036
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/287972
dc.description.abstractAbout 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.format.mediumPrint-Electronic
dc.languageeng
dc.publisherSpringer Science and Business Media LLC
dc.rightsAttribution 4.0 International (CC BY)
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectPCAWG Structural Variation Working Group
dc.subjectPCAWG Consortium
dc.subjectHumans
dc.subjectNeoplasms
dc.subjectRetroelements
dc.subjectGene Rearrangement
dc.subjectLong Interspersed Nucleotide Elements
dc.subjectGenome, Human
dc.subjectCarcinogenesis
dc.titlePan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition.
dc.typeArticle
prism.endingPage319
prism.issueIdentifier3
prism.publicationDate2020
prism.publicationNameNat Genet
prism.startingPage306
prism.volume52
dc.identifier.doi10.17863/CAM.35292
dcterms.dateAccepted2019-11-26
rioxxterms.versionofrecord10.1038/s41588-019-0562-0
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2020-03
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 [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 CP [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 [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 MC [0000-0003-3540-2459]
dc.identifier.eissn1546-1718
rioxxterms.typeJournal Article/Review
pubs.funder-project-idCancer Research UK (22720)
pubs.funder-project-idCancer Research Uk (None)
cam.issuedOnline2020-02-05
cam.orpheus.successWed Apr 15 08:30:35 BST 2020 - The item has an open VoR version.
cam.orpheus.counter3
rioxxterms.freetoread.startdate2100-01-01


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