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Article: Subgroup-specific structural variation across 1,000 medulloblastoma genomes

TitleSubgroup-specific structural variation across 1,000 medulloblastoma genomes
Authors
Northcott, Paul A.Shih, David J.H.Peacock, JohnGarzia, LiviaSorana Morrissy, A.Zichner, ThomasStútz, Adrian M.Korshunov, AndreyReimand, JúriSchumacher, Steven E.Beroukhim, RameenSorensen, Poul H.B.Meyerson, MatthewMarshall, Christian R.Pomeroy, Scott L.Cho, Yoon JaeBader, Gary D.Tabori, UriHawkins, Cynthia E.Bouffet, EricScherer, Stephen W.Li, YisuRutka, James T.Malkin, DavidClifford, Steven C.Lionel, Anath C.Jones, Steven J.M.Korbel, Jan O.Pfister, Stefan M.Marra, Marco A.Taylor, Michael D.MacK, StephenLo, AllanDubuc, AdrianYao, YuanRamaswamy, VijayLuu, BettyRolider, AdiCavalli, Florence M.G.Wang, XinRemke, MarcWu, XiaochongChiu, Readman Y.B.Mungall, Karen L.Chu, AndyChuah, EricCorbett, Richard D.Hoad, Gemma R.Jackman, Shaun D.Ming Nip, KaQian, Jenny Q.Raymond, Anthony G.J.Thiessen, NinaVarhol, Richard J.Birol, InancMoore, Richard A.Jouvet, AnneMungall, Andrew J.Holt, RobertKawauchi, DaisukeRoussel, Martine F.Kool, MarcelJones, David T.W.Witt, HendrickFernandez-L, AfricaKenney, Anna M.Wechsler-Reya, Robert J.Pollack, Ian F.Dirks, PeterAviv, TzviGrajkowska, Wieslawa A.Perek-Polnik, MartaHaberler, Christine C.Delattre, OlivierReynaud, Stéphanie S.Doz, François F.Pernet-Fattet, Sarah S.Cho, Byung KyuFan, XingKim, Seung KiWang, Kyu ChangScheurlen, WolframEberhart, Charles G.Fèvre-Montange, MichelleMuraszko, Karin M.Yancey Gillespie, G.Di Rocco, ConcezioMassimi, LucaMichiels, Erna M.C.Kloosterhof, Nanne K.French, Pim J.Liau, Linda M.Kros, Johan M.Olson, James M.Ellenbogen, Richard G.Zitterbart, KarelKren, LeosThompson, Reid C.Cooper, Michael K.Lach, BoleslawMcLendon, Roger E.Bigner, Darell D.Van Meir, Erwin G.Fontebasso, AdamAlbrecht, SteffenJabado, NadaLindsey, Janet C.Bailey, SimonGupta, NalinWeiss, William A.Bognár, LászlóKlekner, AlmosVan Meter, Timothy E.Fouladi, MaryamKumabe, ToshihiroTominaga, TeijiElbabaa, Samer K.Leonard, Jeffrey R.Rubin, Joshua B.Nakamura, HideoCinalli, GiuseppeGarami, MiklósHauser, PeterSaad, Ali G.Iolascon, AchilleJung, ShinEllison, David W.Carlotti, Carlos G.Vibhakar, RajeevShin Ra, YoungRobinson, ShenandoahZollo, MassimoFaria, Claudia C.Chan, Jennifer A.Levy, Michael L.
Issue Date2012
Citation
Nature, 2012, v. 487, n. 7409, p. 49-56 How to Cite?
AbstractMedulloblastoma, the most common malignant paediatric brain tumour, is currently treated with nonspecific cytotoxic therapies including surgery, whole-brain radiation, and aggressive chemotherapy. As medulloblastoma exhibits marked intertumoural heterogeneity, with at least four distinct molecular variants, previous attempts to identify targets for therapy have been underpowered because of small samples sizes. Here we report somatic copy number aberrations (SCNAs) in 1,087 unique medulloblastomas. SCNAs are common in medulloblastoma, and are predominantly subgroup-enriched. The most common region of focal copy number gain is a tandem duplication of SNCAIP, a gene associated with Parkinson's disease, which is exquisitely restricted to Group 4α. Recurrent translocations of PVT1, including PVT1-MYC and PVT1-NDRG1, that arise through chromothripsis are restricted to Group 3. Numerous targetable SCNAs, including recurrent events targeting TGF-β signalling in Group 3, and NF-κB signalling in Group 4, suggest future avenues for rational, targeted therapy. © 2012 Macmillan Publishers Limited. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/313952
ISSN
2023 Impact Factor: 50.5
2023 SCImago Journal Rankings: 18.509
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorNorthcott, Paul A.-
dc.contributor.authorShih, David J.H.-
dc.contributor.authorPeacock, John-
dc.contributor.authorGarzia, Livia-
dc.contributor.authorSorana Morrissy, A.-
dc.contributor.authorZichner, Thomas-
dc.contributor.authorStútz, Adrian M.-
dc.contributor.authorKorshunov, Andrey-
dc.contributor.authorReimand, Júri-
dc.contributor.authorSchumacher, Steven E.-
dc.contributor.authorBeroukhim, Rameen-
dc.contributor.authorSorensen, Poul H.B.-
dc.contributor.authorMeyerson, Matthew-
dc.contributor.authorMarshall, Christian R.-
dc.contributor.authorPomeroy, Scott L.-
dc.contributor.authorCho, Yoon Jae-
dc.contributor.authorBader, Gary D.-
dc.contributor.authorTabori, Uri-
dc.contributor.authorHawkins, Cynthia E.-
dc.contributor.authorBouffet, Eric-
dc.contributor.authorScherer, Stephen W.-
dc.contributor.authorLi, Yisu-
dc.contributor.authorRutka, James T.-
dc.contributor.authorMalkin, David-
dc.contributor.authorClifford, Steven C.-
dc.contributor.authorLionel, Anath C.-
dc.contributor.authorJones, Steven J.M.-
dc.contributor.authorKorbel, Jan O.-
dc.contributor.authorPfister, Stefan M.-
dc.contributor.authorMarra, Marco A.-
dc.contributor.authorTaylor, Michael D.-
dc.contributor.authorMacK, Stephen-
dc.contributor.authorLo, Allan-
dc.contributor.authorDubuc, Adrian-
dc.contributor.authorYao, Yuan-
dc.contributor.authorRamaswamy, Vijay-
dc.contributor.authorLuu, Betty-
dc.contributor.authorRolider, Adi-
dc.contributor.authorCavalli, Florence M.G.-
dc.contributor.authorWang, Xin-
dc.contributor.authorRemke, Marc-
dc.contributor.authorWu, Xiaochong-
dc.contributor.authorChiu, Readman Y.B.-
dc.contributor.authorMungall, Karen L.-
dc.contributor.authorChu, Andy-
dc.contributor.authorChuah, Eric-
dc.contributor.authorCorbett, Richard D.-
dc.contributor.authorHoad, Gemma R.-
dc.contributor.authorJackman, Shaun D.-
dc.contributor.authorMing Nip, Ka-
dc.contributor.authorQian, Jenny Q.-
dc.contributor.authorRaymond, Anthony G.J.-
dc.contributor.authorThiessen, Nina-
dc.contributor.authorVarhol, Richard J.-
dc.contributor.authorBirol, Inanc-
dc.contributor.authorMoore, Richard A.-
dc.contributor.authorJouvet, Anne-
dc.contributor.authorMungall, Andrew J.-
dc.contributor.authorHolt, Robert-
dc.contributor.authorKawauchi, Daisuke-
dc.contributor.authorRoussel, Martine F.-
dc.contributor.authorKool, Marcel-
dc.contributor.authorJones, David T.W.-
dc.contributor.authorWitt, Hendrick-
dc.contributor.authorFernandez-L, Africa-
dc.contributor.authorKenney, Anna M.-
dc.contributor.authorWechsler-Reya, Robert J.-
dc.contributor.authorPollack, Ian F.-
dc.contributor.authorDirks, Peter-
dc.contributor.authorAviv, Tzvi-
dc.contributor.authorGrajkowska, Wieslawa A.-
dc.contributor.authorPerek-Polnik, Marta-
dc.contributor.authorHaberler, Christine C.-
dc.contributor.authorDelattre, Olivier-
dc.contributor.authorReynaud, Stéphanie S.-
dc.contributor.authorDoz, François F.-
dc.contributor.authorPernet-Fattet, Sarah S.-
dc.contributor.authorCho, Byung Kyu-
dc.contributor.authorFan, Xing-
dc.contributor.authorKim, Seung Ki-
dc.contributor.authorWang, Kyu Chang-
dc.contributor.authorScheurlen, Wolfram-
dc.contributor.authorEberhart, Charles G.-
dc.contributor.authorFèvre-Montange, Michelle-
dc.contributor.authorMuraszko, Karin M.-
dc.contributor.authorYancey Gillespie, G.-
dc.contributor.authorDi Rocco, Concezio-
dc.contributor.authorMassimi, Luca-
dc.contributor.authorMichiels, Erna M.C.-
dc.contributor.authorKloosterhof, Nanne K.-
dc.contributor.authorFrench, Pim J.-
dc.contributor.authorLiau, Linda M.-
dc.contributor.authorKros, Johan M.-
dc.contributor.authorOlson, James M.-
dc.contributor.authorEllenbogen, Richard G.-
dc.contributor.authorZitterbart, Karel-
dc.contributor.authorKren, Leos-
dc.contributor.authorThompson, Reid C.-
dc.contributor.authorCooper, Michael K.-
dc.contributor.authorLach, Boleslaw-
dc.contributor.authorMcLendon, Roger E.-
dc.contributor.authorBigner, Darell D.-
dc.contributor.authorVan Meir, Erwin G.-
dc.contributor.authorFontebasso, Adam-
dc.contributor.authorAlbrecht, Steffen-
dc.contributor.authorJabado, Nada-
dc.contributor.authorLindsey, Janet C.-
dc.contributor.authorBailey, Simon-
dc.contributor.authorGupta, Nalin-
dc.contributor.authorWeiss, William A.-
dc.contributor.authorBognár, László-
dc.contributor.authorKlekner, Almos-
dc.contributor.authorVan Meter, Timothy E.-
dc.contributor.authorFouladi, Maryam-
dc.contributor.authorKumabe, Toshihiro-
dc.contributor.authorTominaga, Teiji-
dc.contributor.authorElbabaa, Samer K.-
dc.contributor.authorLeonard, Jeffrey R.-
dc.contributor.authorRubin, Joshua B.-
dc.contributor.authorNakamura, Hideo-
dc.contributor.authorCinalli, Giuseppe-
dc.contributor.authorGarami, Miklós-
dc.contributor.authorHauser, Peter-
dc.contributor.authorSaad, Ali G.-
dc.contributor.authorIolascon, Achille-
dc.contributor.authorJung, Shin-
dc.contributor.authorEllison, David W.-
dc.contributor.authorCarlotti, Carlos G.-
dc.contributor.authorVibhakar, Rajeev-
dc.contributor.authorShin Ra, Young-
dc.contributor.authorRobinson, Shenandoah-
dc.contributor.authorZollo, Massimo-
dc.contributor.authorFaria, Claudia C.-
dc.contributor.authorChan, Jennifer A.-
dc.contributor.authorLevy, Michael L.-
dc.date.accessioned2022-07-06T11:28:35Z-
dc.date.available2022-07-06T11:28:35Z-
dc.date.issued2012-
dc.identifier.citationNature, 2012, v. 487, n. 7409, p. 49-56-
dc.identifier.issn0028-0836-
dc.identifier.urihttp://hdl.handle.net/10722/313952-
dc.description.abstractMedulloblastoma, the most common malignant paediatric brain tumour, is currently treated with nonspecific cytotoxic therapies including surgery, whole-brain radiation, and aggressive chemotherapy. As medulloblastoma exhibits marked intertumoural heterogeneity, with at least four distinct molecular variants, previous attempts to identify targets for therapy have been underpowered because of small samples sizes. Here we report somatic copy number aberrations (SCNAs) in 1,087 unique medulloblastomas. SCNAs are common in medulloblastoma, and are predominantly subgroup-enriched. The most common region of focal copy number gain is a tandem duplication of SNCAIP, a gene associated with Parkinson's disease, which is exquisitely restricted to Group 4α. Recurrent translocations of PVT1, including PVT1-MYC and PVT1-NDRG1, that arise through chromothripsis are restricted to Group 3. Numerous targetable SCNAs, including recurrent events targeting TGF-β signalling in Group 3, and NF-κB signalling in Group 4, suggest future avenues for rational, targeted therapy. © 2012 Macmillan Publishers Limited. All rights reserved.-
dc.languageeng-
dc.relation.ispartofNature-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.titleSubgroup-specific structural variation across 1,000 medulloblastoma genomes-
dc.typeArticle-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1038/nature11327-
dc.identifier.pmid22832581-
dc.identifier.pmcidPMC3683624-
dc.identifier.scopuseid_2-s2.0-84864425646-
dc.identifier.volume487-
dc.identifier.issue7409-
dc.identifier.spage49-
dc.identifier.epage56-
dc.identifier.eissn1476-4687-
dc.identifier.isiWOS:000307010700030-
dc.identifier.f1000717962612-

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