000131775 001__ 131775
000131775 005__ 20240229105012.0
000131775 0247_ $$2doi$$a10.1038/s41467-017-02602-0
000131775 0247_ $$2pmid$$apmid:29321523
000131775 0247_ $$2pmc$$apmc:PMC5762758
000131775 0247_ $$2altmetric$$aaltmetric:31493509
000131775 037__ $$aDKFZ-2018-00072
000131775 041__ $$aeng
000131775 082__ $$a500
000131775 1001_ $$0P:(DE-He78)97208bef945f0ab6bf33ed9925685de4$$aChudasama, Priya$$b0$$eFirst author
000131775 245__ $$aIntegrative genomic and transcriptomic analysis of leiomyosarcoma.
000131775 260__ $$aLondon$$bNature Publishing Group$$c2018
000131775 3367_ $$2DRIVER$$aarticle
000131775 3367_ $$2DataCite$$aOutput Types/Journal article
000131775 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1659606982_16657
000131775 3367_ $$2BibTeX$$aARTICLE
000131775 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000131775 3367_ $$00$$2EndNote$$aJournal Article
000131775 520__ $$aLeiomyosarcoma (LMS) is an aggressive mesenchymal malignancy with few therapeutic options. The mechanisms underlying LMS development, including clinically actionable genetic vulnerabilities, are largely unknown. Here we show, using whole-exome and transcriptome sequencing, that LMS tumors are characterized by substantial mutational heterogeneity, near-universal inactivation of TP53 and RB1, widespread DNA copy number alterations including chromothripsis, and frequent whole-genome duplication. Furthermore, we detect alternative telomere lengthening in 78% of cases and identify recurrent alterations in telomere maintenance genes such as ATRX, RBL2, and SP100, providing insight into the genetic basis of this mechanism. Finally, most tumors display hallmarks of 'BRCAness', including alterations in homologous recombination DNA repair genes, multiple structural rearrangements, and enrichment of specific mutational signatures, and cultured LMS cells are sensitive towards olaparib and cisplatin. This comprehensive study of LMS genomics has uncovered key biological features that may inform future experimental research and enable the design of novel therapies.
000131775 536__ $$0G:(DE-HGF)POF3-317$$a317 - Translational cancer research (POF3-317)$$cPOF3-317$$fPOF III$$x0
000131775 588__ $$aDataset connected to CrossRef, PubMed,
000131775 7001_ $$0P:(DE-He78)3ad0b83338ba5df15b5701e181f58129$$aMughal, Sadaf Shabbir$$b1$$eFirst author
000131775 7001_ $$aSanders, Mathijs A$$b2
000131775 7001_ $$0P:(DE-HGF)0$$aHübschmann, Daniel$$b3$$eFirst author
000131775 7001_ $$0P:(DE-He78)d1a346df2019a0c0fd79b4808e502cee$$aChung, Inn$$b4
000131775 7001_ $$0P:(DE-He78)307c43dc6b7bbf6ca6c8a29fdeb01851$$aDeeg, Katharina$$b5
000131775 7001_ $$0P:(DE-He78)76f5d947149185d77a1fa1a114b3fb30$$aWong, Siao-Han$$b6
000131775 7001_ $$0P:(DE-He78)022daadde115569e96596dfcd21190a3$$aRabe, Sophie$$b7
000131775 7001_ $$0P:(DE-He78)aa1da4918a48503d125ee3325c7f135e$$aHlevnjak, Mario$$b8
000131775 7001_ $$aZapatka, Marc$$b9
000131775 7001_ $$0P:(DE-He78)509fb81813c1911954da583129e8ea57$$aErnst, Aurélie$$b10
000131775 7001_ $$aKleinheinz, Kortine$$b11
000131775 7001_ $$aSchlesner, Matthias$$b12
000131775 7001_ $$0P:(DE-He78)a82e5b3870b674f83ff39df31c487ac7$$aSieverling, Lina$$b13
000131775 7001_ $$00000-0002-8753-8238$$aKlink, Barbara$$b14
000131775 7001_ $$0P:(DE-HGF)0$$aSchröck, Evelin$$b15
000131775 7001_ $$aHoogenboezem, Remco M$$b16
000131775 7001_ $$aKasper, Bernd$$b17
000131775 7001_ $$aHeilig, Christoph E$$b18
000131775 7001_ $$aEgerer, Gerlinde$$b19
000131775 7001_ $$0P:(DE-He78)1efb774993effe7a66a6ffc1b1cf9ccb$$aWolf, Stephan$$b20
000131775 7001_ $$0P:(DE-He78)5bacb661d5d7c0220d8f996d980ad8de$$avon Kalle, Christof$$b21
000131775 7001_ $$0P:(DE-He78)78b6aa82148e60b4d91e3a37a6d3d9a0$$aEils, Roland$$b22$$udkfz
000131775 7001_ $$0P:(DE-HGF)0$$aStenzinger, Albrecht$$b23
000131775 7001_ $$0P:(DE-He78)891da714b7f7991d9c4c1d5224c991e7$$aWeichert, Wilko$$b24$$udkfz
000131775 7001_ $$0P:(DE-He78)157277fe62f07df1732f9d126a51d1b9$$aGlimm, Hanno$$b25
000131775 7001_ $$0P:(DE-He78)5120a331b1c28045c8ca6a8b1c73c95f$$aGröschel, Stefan$$b26
000131775 7001_ $$aKopp, Hans-Georg$$b27
000131775 7001_ $$aOmlor, Georg$$b28
000131775 7001_ $$aLehner, Burkhard$$b29
000131775 7001_ $$0P:(DE-HGF)0$$aBauer, Sebastian$$b30
000131775 7001_ $$aSchimmack, Simon$$b31
000131775 7001_ $$aUlrich, Alexis$$b32
000131775 7001_ $$aMechtersheimer, Gunhild$$b33
000131775 7001_ $$aRippe, Karsten$$b34
000131775 7001_ $$aBrors, Benedikt$$b35
000131775 7001_ $$aHutter, Barbara$$b36
000131775 7001_ $$aRenner, Marcus$$b37
000131775 7001_ $$aHohenberger, Peter$$b38
000131775 7001_ $$0P:(DE-He78)2c1a21d1cf5fdc9e297512c9d1354250$$aScholl, Claudia$$b39
000131775 7001_ $$0P:(DE-He78)f0144d171d26dbedb67c9db1df35629d$$aFröhling, Stefan$$b40$$eLast author
000131775 773__ $$0PERI:(DE-600)2553671-0$$a10.1038/s41467-017-02602-0$$gVol. 9, no. 1, p. 144$$n1$$p144$$tNature Communications$$v9$$x2041-1723$$y2018
000131775 909CO $$ooai:inrepo02.dkfz.de:131775$$pVDB
000131775 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)97208bef945f0ab6bf33ed9925685de4$$aDeutsches Krebsforschungszentrum$$b0$$kDKFZ
000131775 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)3ad0b83338ba5df15b5701e181f58129$$aDeutsches Krebsforschungszentrum$$b1$$kDKFZ
000131775 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-HGF)0$$aDeutsches Krebsforschungszentrum$$b3$$kDKFZ
000131775 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)d1a346df2019a0c0fd79b4808e502cee$$aDeutsches Krebsforschungszentrum$$b4$$kDKFZ
000131775 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)307c43dc6b7bbf6ca6c8a29fdeb01851$$aDeutsches Krebsforschungszentrum$$b5$$kDKFZ
000131775 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)76f5d947149185d77a1fa1a114b3fb30$$aDeutsches Krebsforschungszentrum$$b6$$kDKFZ
000131775 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)022daadde115569e96596dfcd21190a3$$aDeutsches Krebsforschungszentrum$$b7$$kDKFZ
000131775 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)aa1da4918a48503d125ee3325c7f135e$$aDeutsches Krebsforschungszentrum$$b8$$kDKFZ
000131775 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)509fb81813c1911954da583129e8ea57$$aDeutsches Krebsforschungszentrum$$b10$$kDKFZ
000131775 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)a82e5b3870b674f83ff39df31c487ac7$$aDeutsches Krebsforschungszentrum$$b13$$kDKFZ
000131775 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-HGF)0$$aDeutsches Krebsforschungszentrum$$b15$$kDKFZ
000131775 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)1efb774993effe7a66a6ffc1b1cf9ccb$$aDeutsches Krebsforschungszentrum$$b20$$kDKFZ
000131775 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)5bacb661d5d7c0220d8f996d980ad8de$$aDeutsches Krebsforschungszentrum$$b21$$kDKFZ
000131775 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)78b6aa82148e60b4d91e3a37a6d3d9a0$$aDeutsches Krebsforschungszentrum$$b22$$kDKFZ
000131775 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-HGF)0$$aDeutsches Krebsforschungszentrum$$b23$$kDKFZ
000131775 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)891da714b7f7991d9c4c1d5224c991e7$$aDeutsches Krebsforschungszentrum$$b24$$kDKFZ
000131775 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)157277fe62f07df1732f9d126a51d1b9$$aDeutsches Krebsforschungszentrum$$b25$$kDKFZ
000131775 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)5120a331b1c28045c8ca6a8b1c73c95f$$aDeutsches Krebsforschungszentrum$$b26$$kDKFZ
000131775 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-HGF)0$$aDeutsches Krebsforschungszentrum$$b30$$kDKFZ
000131775 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)2c1a21d1cf5fdc9e297512c9d1354250$$aDeutsches Krebsforschungszentrum$$b39$$kDKFZ
000131775 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)f0144d171d26dbedb67c9db1df35629d$$aDeutsches Krebsforschungszentrum$$b40$$kDKFZ
000131775 9131_ $$0G:(DE-HGF)POF3-317$$1G:(DE-HGF)POF3-310$$2G:(DE-HGF)POF3-300$$3G:(DE-HGF)POF3$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lKrebsforschung$$vTranslational cancer research$$x0
000131775 9141_ $$y2018
000131775 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bNAT COMMUN : 2015
000131775 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS
000131775 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline
000131775 915__ $$0StatID:(DE-HGF)0310$$2StatID$$aDBCoverage$$bNCBI Molecular Biology Database
000131775 915__ $$0StatID:(DE-HGF)0501$$2StatID$$aDBCoverage$$bDOAJ Seal
000131775 915__ $$0StatID:(DE-HGF)0500$$2StatID$$aDBCoverage$$bDOAJ
000131775 915__ $$0LIC:(DE-HGF)CCBYNV$$2V:(DE-HGF)$$aCreative Commons Attribution CC BY (No Version)$$bDOAJ
000131775 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bThomson Reuters Master Journal List
000131775 915__ $$0StatID:(DE-HGF)0110$$2StatID$$aWoS$$bScience Citation Index
000131775 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection
000131775 915__ $$0StatID:(DE-HGF)0111$$2StatID$$aWoS$$bScience Citation Index Expanded
000131775 915__ $$0StatID:(DE-HGF)1060$$2StatID$$aDBCoverage$$bCurrent Contents - Agriculture, Biology and Environmental Sciences
000131775 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences
000131775 915__ $$0StatID:(DE-HGF)1150$$2StatID$$aDBCoverage$$bCurrent Contents - Physical, Chemical and Earth Sciences
000131775 915__ $$0StatID:(DE-HGF)1040$$2StatID$$aDBCoverage$$bZoological Record
000131775 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews
000131775 915__ $$0StatID:(DE-HGF)9910$$2StatID$$aIF >= 10$$bNAT COMMUN : 2015
000131775 9201_ $$0I:(DE-He78)G100-20160331$$kG100$$lTranslationale Onkologie$$x0
000131775 9201_ $$0I:(DE-He78)G200-20160331$$kG200$$lAngewandte Bioinformatik$$x1
000131775 9201_ $$0I:(DE-He78)B080-20160331$$kB080$$lTheoretische Bioinformatik$$x2
000131775 9201_ $$0I:(DE-He78)B240-20160331$$kB240$$lBioinformatik und Omics Data Analytics$$x3
000131775 9201_ $$0I:(DE-He78)B060-20160331$$kB060$$lB060 Molekulare Genetik$$x4
000131775 9201_ $$0I:(DE-He78)L101-20160331$$kL101$$lDKTK Heidelberg$$x5
000131775 9201_ $$0I:(DE-He78)L301-20160331$$kL301$$lDKTK Dresden$$x6
000131775 9201_ $$0I:(DE-He78)W190-20160331$$kW190$$lHochdurchsatz-Sequenzierung$$x7
000131775 9201_ $$0I:(DE-He78)G240-20160331$$kG240$$lMolekulare Leukämogenese$$x8
000131775 9201_ $$0I:(DE-He78)L701-20160331$$kL701$$lDKTK München$$x9
000131775 9201_ $$0I:(DE-He78)G250-20160331$$kG250$$lMolekulare Therapie in der Hämatologie und Onkologie$$x10
000131775 9201_ $$0I:(DE-He78)L801-20160331$$kL801$$lDKTK Tübingen$$x11
000131775 9201_ $$0I:(DE-He78)L401-20160331$$kL401$$lDKTK Essen$$x12
000131775 9201_ $$0I:(DE-He78)G102-20160331$$kG102$$lAngewandte Funktionelle Genomik$$x13
000131775 980__ $$ajournal
000131775 980__ $$aVDB
000131775 980__ $$aI:(DE-He78)G100-20160331
000131775 980__ $$aI:(DE-He78)G200-20160331
000131775 980__ $$aI:(DE-He78)B080-20160331
000131775 980__ $$aI:(DE-He78)B240-20160331
000131775 980__ $$aI:(DE-He78)B060-20160331
000131775 980__ $$aI:(DE-He78)L101-20160331
000131775 980__ $$aI:(DE-He78)L301-20160331
000131775 980__ $$aI:(DE-He78)W190-20160331
000131775 980__ $$aI:(DE-He78)G240-20160331
000131775 980__ $$aI:(DE-He78)L701-20160331
000131775 980__ $$aI:(DE-He78)G250-20160331
000131775 980__ $$aI:(DE-He78)L801-20160331
000131775 980__ $$aI:(DE-He78)L401-20160331
000131775 980__ $$aI:(DE-He78)G102-20160331
000131775 980__ $$aUNRESTRICTED