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000148322 1001_ $$0P:(DE-He78)b84967c4f073b71405404f3719c788cd$$aLambo, Sander$$b0$$eFirst author
000148322 245__ $$aThe molecular landscape of ETMR at diagnosis and relapse.
000148322 260__ $$aLondon [u.a.]$$bNature Publ. Group52462$$c2019
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000148322 520__ $$aEmbryonal tumours with multilayered rosettes (ETMRs) are aggressive paediatric embryonal brain tumours with a universally poor prognosis1. Here we collected 193 primary ETMRs and 23 matched relapse samples to investigate the genomic landscape of this distinct tumour type. We found that patients with tumours in which the proposed driver C19MC2-4 was not amplified frequently had germline mutations in DICER1 or other microRNA-related aberrations such as somatic amplification of miR-17-92 (also known as MIR17HG). Whole-genome sequencing revealed that tumours had an overall low recurrence of single-nucleotide variants (SNVs), but showed prevalent genomic instability caused by widespread occurrence of R-loop structures. We show that R-loop-associated chromosomal instability can be induced by the loss of DICER1 function. Comparison of primary tumours and matched relapse samples showed a strong conservation of structural variants, but low conservation of SNVs. Moreover, many newly acquired SNVs are associated with a mutational signature related to cisplatin treatment. Finally, we show that targeting R-loops with topoisomerase and PARP inhibitors might be an effective treatment strategy for this deadly disease.
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000148322 7001_ $$0P:(DE-He78)932918ed0e8d8790a81235528019a8e0$$aGröbner, Susanne$$b1
000148322 7001_ $$aRausch, Tobias$$b2
000148322 7001_ $$aWaszak, Sebastian M$$b3
000148322 7001_ $$aSchmidt, Christin$$b4
000148322 7001_ $$aGorthi, Aparna$$b5
000148322 7001_ $$aRomero, July Carolina$$b6
000148322 7001_ $$0P:(DE-He78)c865b84c0142dfa1def7dfeb70302918$$aMauermann, Monika$$b7
000148322 7001_ $$0P:(DE-He78)b0b3740107f746e09dc23fdf25eb0629$$aBrabetz, Sebastian$$b8
000148322 7001_ $$0P:(DE-He78)6e11760c6fdd0c35cd056cf36243ecd5$$aKrausert, Sonja$$b9
000148322 7001_ $$0P:(DE-He78)e84b3187ddd3529f884082e30f228c66$$aBuchhalter, Ivo$$b10
000148322 7001_ $$aKoster, Jan$$b11
000148322 7001_ $$aZwijnenburg, Danny A$$b12
000148322 7001_ $$0P:(DE-He78)45440b44791309bd4b7dbb4f73333f9b$$aSill, Martin$$b13
000148322 7001_ $$0P:(DE-He78)a8c698e0904394407c5261932915daa5$$aHübner, Jens-Martin$$b14
000148322 7001_ $$0P:(DE-He78)e73a0a4fab40344d89d693cbe1df3109$$aMack, Norman$$b15
000148322 7001_ $$0P:(DE-He78)9ce969bf1ac7913b3f2b1cf4dd7f823e$$aSchwalm, Benjamin$$b16
000148322 7001_ $$aRyzhova, Marina$$b17
000148322 7001_ $$0P:(DE-He78)744146d3b5a3df1e0ac555e5bf1ee5cc$$aHovestadt, Volker$$b18
000148322 7001_ $$aPapillon-Cavanagh, Simon$$b19
000148322 7001_ $$aChan, Jennifer A$$b20
000148322 7001_ $$aLandgraf, Pablo$$b21
000148322 7001_ $$aHo, Ben$$b22
000148322 7001_ $$0P:(DE-He78)0be2f86573954f87e97f8a4dbb05cb0f$$aMilde, Till$$b23
000148322 7001_ $$0P:(DE-He78)143af26de9d57bf624771616318aaf7c$$aWitt, Olaf$$b24
000148322 7001_ $$0P:(DE-He78)3de637452ba900e2bdd359b8f41953bf$$aEcker, Jonas$$b25
000148322 7001_ $$0P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88$$aSahm, Felix$$b26
000148322 7001_ $$aSumerauer, David$$b27
000148322 7001_ $$aEllison, David W$$b28
000148322 7001_ $$aOrr, Brent A$$b29
000148322 7001_ $$aDarabi, Anna$$b30
000148322 7001_ $$aHaberler, Christine$$b31
000148322 7001_ $$aFigarella-Branger, Dominique$$b32
000148322 7001_ $$aWesseling, Pieter$$b33
000148322 7001_ $$aSchittenhelm, Jens$$b34
000148322 7001_ $$0P:(DE-He78)a244aa021112b9002419791434bbc71c$$aRemke, Marc$$b35$$udkfz
000148322 7001_ $$aTaylor, Michael D$$b36
000148322 7001_ $$aGil-da-Costa, Maria J$$b37
000148322 7001_ $$aŁastowska, Maria$$b38
000148322 7001_ $$aGrajkowska, Wiesława$$b39
000148322 7001_ $$aHasselblatt, Martin$$b40
000148322 7001_ $$aHauser, Peter$$b41
000148322 7001_ $$aPietsch, Torsten$$b42
000148322 7001_ $$aUro-Coste, Emmanuelle$$b43
000148322 7001_ $$aBourdeaut, Franck$$b44
000148322 7001_ $$aMasliah-Planchon, Julien$$b45
000148322 7001_ $$aRigau, Valérie$$b46
000148322 7001_ $$aAlexandrescu, Sanda$$b47
000148322 7001_ $$0P:(DE-He78)1efb774993effe7a66a6ffc1b1cf9ccb$$aWolf, Stephan$$b48$$udkfz
000148322 7001_ $$aLi, Xiao-Nan$$b49
000148322 7001_ $$aSchüller, Ulrich$$b50
000148322 7001_ $$aSnuderl, Matija$$b51
000148322 7001_ $$aKarajannis, Matthias A$$b52
000148322 7001_ $$aGiangaspero, Felice$$b53
000148322 7001_ $$aJabado, Nada$$b54
000148322 7001_ $$0P:(DE-He78)a8a10626a848d31e70cfd96a133cc144$$avon Deimling, Andreas$$b55
000148322 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David T W$$b56
000148322 7001_ $$aKorbel, Jan O$$b57
000148322 7001_ $$avon Hoff, Katja$$b58
000148322 7001_ $$0P:(DE-He78)e13b4363c5fe858044ef8a39c02c870c$$aLichter, Peter$$b59
000148322 7001_ $$aHuang, Annie$$b60
000148322 7001_ $$aBishop, Alexander J R$$b61
000148322 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan M$$b62
000148322 7001_ $$0P:(DE-He78)8d9c904a6cea14d4c99c78ba46e41f93$$aKorshunov, Andrey$$b63
000148322 7001_ $$0P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8$$aKool, Marcel$$b64$$eLast author
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