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Dissecting the genomic complexity underlying medulloblastoma
Open accessAbstract
Medulloblastoma is the most common brain tumour in children; using whole-genome sequencing of tumour samples the authors show that the clinically challenging Group 3 and 4 tumours can be tetraploid, and reveal the expression of the first medulloblastoma fusion genes identified. Medulloblastoma is the most common malignant brain tumour in children. Four papers published in the 2 August 2012 issue of Nature use whole-genome and other sequencing techniques to produce a detailed picture of the genetics and genomics of this condition. Notable findings include the identification of recurrent mutations in genes not previously implicated in medulloblastoma, with significant genetic differences associated with the four biologically distinct subgroups and clinical outcomes in each. Potential avenues for therapy are suggested by the identification of targetable somatic copy-number alterations, including recurrent events targeting TGFβ signalling in Group 3, and NF-κB signalling in Group 4 medulloblastomas. Medulloblastoma is an aggressively growing tumour, arising in the cerebellum or medulla/brain stem. It is the most common malignant brain tumour in children, and shows tremendous biological and clinical heterogeneity1. Despite recent treatment advances, approximately 40% of children experience tumour recurrence, and 30% will die from their disease. Those who survive often have a significantly reduced quality of life. Four tumour subgroups with distinct clinical, biological and genetic profiles are currently identified2,3. WNT tumours, showing activated wingless pathway signalling, carry a favourable prognosis under current treatment regimens4. SHH tumours show hedgehog pathway activation, and have an intermediate prognosis2. Group 3 and 4 tumours are molecularly less well characterized, and also present the greatest clinical challenges2,3,5. The full repertoire of genetic events driving this distinction, however, remains unclear. Here we describe an integrative deep-sequencing analysis of 125 tumour–normal pairs, conducted as part of the International Cancer Genome Consortium (ICGC) PedBrain Tumor Project. Tetraploidy was identified as a frequent early event in Group 3 and 4 tumours, and a positive correlation between patient age and mutation rate was observed. Several recurrent mutations were identified, both in known medulloblastoma-related genes (CTNNB1, PTCH1, MLL2, SMARCA4) and in genes not previously linked to this tumour (DDX3X, CTDNEP1, KDM6A, TBR1), often in subgroup-specific patterns. RNA sequencing confirmed these alterations, and revealed the expression of what are, to our knowledge, the first medulloblastoma fusion genes identified. Chromatin modifiers were frequently altered across all subgroups. These findings enhance our understanding of the genomic complexity and heterogeneity underlying medulloblastoma, and provide several potential targets for new therapeutics, especially for Group 3 and 4 patients.
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The 2007 WHO Classification of Tumours of the Central Nervous System
Louis, D. N., Ohgaki, H., Wiestler, O. D., Cavenee, W. K., Burger, P. C., Jouvet, A., Scheithauer, B. W., & Kleihues, P. (2007) · Acta Neuropathologica · doi:10.1007/s00401-007-0243-4 · Cited by 15,656
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma
Schwartzentruber, J., Korshunov, A., Liu, X.-Y., Jones, D. T. W., Pfaff, E., Jacob, K., Sturm, D., Fontebasso, A. M., Quang, D.-A. K., Tönjes, M., et al. (2012) · Nature · doi:10.1038/nature10833 · Cited by 2,631
Self-citationThe Mutational Landscape of Head and Neck Squamous Cell Carcinoma
Stransky, N., Egloff, A. M., Tward, A. D., Kostic, A. D., Cibulskis, K., Sivachenko, A., Kryukov, G. V., Lawrence, M. S., Sougnez, C. L., McKenna, A., et al. (2011) · Science · doi:10.1126/science.1208130 · Cited by 2,541
Self-citationMassive genomic rearrangement acquired in a single catastrophic event during cancer development
Stephens, P. J., Greenman, C. D., Fu, B., Yang, F., Bignell, G. R., Mudie, L. J., Pleasance, E. D., Lau, K. W., Beare, D., Stebbings, L. A., et al. (2011) · Cell · doi:10.1016/j.cell.2010.11.055 · Cited by 2,414
Molecular subgroups of medulloblastoma: the current consensus
Taylor, M. D., Northcott, P. A., Korshunov, A., Remke, M., Cho, Y.-J., Clifford, S. C., Eberhart, C. G., Parsons, D. W., Rutkowski, S., Gajjar, A., et al. (2012) · Acta Neuropathologica · doi:10.1007/s00401-011-0922-z · Cited by 1,936
Self-citationMedulloblastoma Comprises Four Distinct Molecular Variants
Northcott, P. A., Korshunov, A., Witt, H., Hielscher, T., Eberhart, C. G., Mack, S. C., Bouffet, É., Clifford, S. C., Hawkins, C. E., French, P. J., et al. (2010) · Journal of Clinical Oncology · doi:10.1200/jco.2009.27.4324 · Cited by 1,353
Self-citationEnglund, C., Fink, A., Lau, C., Pham, D., Daza, R. A. M., Bulfone, A., Kowalczyk, T., & Hevner, R. F. (2005) · The Journal of Neuroscience · doi:10.1523/jneurosci.2899-04.2005 · Cited by 1,261
SF3B1 and Other Novel Cancer Genes in Chronic Lymphocytic Leukemia
Wang, L., Lawrence, M. S., Wan, Y., Stojanov, P., Sougnez, C. L., Stevenson, K. E., Werner, L. L., Sivachenko, A., DeLuca, D. S., Zhang, L., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1109016 · Cited by 1,103
Self-citationKool, M., Korshunov, A., Remke, M., Jones, D., Schlanstein, M., Northcott, P. A., Cho, Y., Köster, J., Meeteren, A. Y. N. S., van Vuurden, D. G., et al. (2012) · Acta Neuropathologica · doi:10.1007/s00401-012-0958-8 · Cited by 1,057
Self-citationRausch, T., Jones, D. T. W., Zapatka, M., Stütz, A. M., Zichner, T., Weischenfeldt, J., Jäger, N., Remke, M., Shih, D., Northcott, P. A., et al. (2012) · Cell · doi:10.1016/j.cell.2011.12.013 · Cited by 865
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Items 501–600 of 852
Drug Repurposing in Medulloblastoma: Challenges and Recommendations
Hammoud, H., Saker, Z., Harati, H., Fares, Y., Bahmad, H. F., & Nabha, S. M. (2020) · Current Treatment Options in Oncology · doi:10.1007/s11864-020-00805-0 · Cited by 17
Tu, Z., Chen, X., Tian, T., Chen, G., & Huang, M. (2021) · Aging · doi:10.18632/aging.202600 · Cited by 16
Molecular Targeted Therapies: Time for a Paradigm Shift in Medulloblastoma Treatment?
Gatto, L., Franceschi, E., Tosoni, A., Nunno, V. D., Bartolini, S., & Brandes, A. A. (2022) · Cancers · doi:10.3390/cancers14020333 · Cited by 16
Koschmann, C. J., Wu, Y., Kumar‐Sinha, C., Lonigro, R. J., Vats, P., Kasaian, K., Cieslik, M. P., Cao, X., Anderson, B., Frank, K. M., et al. (2018) · JCO Precision Oncology · doi:10.1200/po.17.00133 · Cited by 19
Fremd, C., Hlevnjak, M., Zapatka, M., Zoernig, I., Halama, N., Fejzibegovic, N., Thewes, V., Lichter, P., Schirmacher, P., Kloor, M., et al. (2018) · Breast Care · doi:10.1159/000492580 · Cited by 16
Self-citationSerth, J., Peters, I., Dubrowinskaja, N., Reese, C., Albrecht, K., Klintschar, M., Lafos, M., Grote, A., Becker, A. J., Hennenlotter, J., et al. (2020) · Clinical Epigenetics · doi:10.1186/s13148-020-0823-x · Cited by 16
Core regulatory circuitries in defining cancer cell identity across the malignant spectrum
Jahangiri, L., Tsaprouni, L., Trigg, R. M., Williams, J. A., Gkoutos, G. V., Turner, S. D., & Pereira, J. D. (2020) · Open Biology · doi:10.1098/rsob.200121 · Cited by 14
Stücklin, A. G., & Grotzer, M. A. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-64189-2.00019-6 · Cited by 16
Immunotherapy in Pediatric Malignancies: Current Status and Future Perspectives
Capitini, C. M., Otto, M., DeSantes, K. B., & Sondel, P. M. (2014) · Future Oncology · doi:10.2217/fon.14.62 · Cited by 15
Mastronuzzi, A., Miele, E., Pò, A., Antonelli, M., Buttarelli, F. R., Colafati, G. S., Bufalo, F. D., Faedda, R., Spinelli, G. P., Carai, A., et al. (2014) · BMC Cancer · doi:10.1186/1471-2407-14-262 · Cited by 15
Tinti, M., Dissanayake, K., Synowsky, S. A., Albergante, L., & MacKintosh, C. (2014) · Open Biology · doi:10.1098/rsob.140029 · Cited by 14
Insight into the Molecular Basis Underlying Chromothripsis
Ostapińska, K., Styka, B., & Lejman, M. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23063318 · Cited by 15
Patient-derived Tumor Models for Diffuse Intrinsic Pontine Gliomas
Hashizume, R., & Gupta, N. M. (2016) · Current Neuropharmacology · doi:10.2174/1570159x14666160523144117 · Cited by 14
Use case driven evaluation of open databases for pediatric cancer research
Jeanquartier, F., Jean-Quartier, C., & Holzinger, A. (2019) · BioData Mining · doi:10.1186/s13040-018-0190-8 · Cited by 15
Taniguchi, H., & Moore, A. W. (2014) · BioEssays · doi:10.1002/bies.201400087 · Cited by 17
SWI/SNF gene variants and glioma risk and outcome
Amankwah, E. K., Thompson, R. C., Nabors, B., Olson, J. J., Browning, J. E., Madden, M. H., & Egan, K. M. (2012) · Cancer Epidemiology · doi:10.1016/j.canep.2012.12.001 · Cited by 15
A group 3 medulloblastoma stem cell program is maintained by OTX2-mediated alternative splicing
Saulnier, O., Zagozewski, J. L., Liang, L., Hendrikse, L. D., Layug, P. J., Gordon, V. D., Aldinger, K. A., Haldipur, P., Borlase, S., Coudière-Morrison, L., et al. (2024) · Nature Cell Biology · doi:10.1038/s41556-024-01460-5 · Cited by 14
Self-citationSpecific catalytically impaired DDX3X mutants form sexually dimorphic hollow condensates
Owens, M. C., Shen, H., Yanas, A. M., Mendoza-Figueroa, M. S., Lavorando, E., Wei, X., Shweta, H., Tang, H., Goldman, Y. E., & Liu, K. F. (2024) · Nature Communications · doi:10.1038/s41467-024-53636-0 · Cited by 16
Remke, M., Hering, E., Gerber, N. U., Kool, M., Sturm, D., Rickert, C. H., Gerß, J., Schulz, S., Hielscher, T., Hasselblatt, M., et al. (2013) · Child s Nervous System · doi:10.1007/s00381-013-2142-4 · Cited by 14
Self-citationAdvances in managing medulloblastoma and intracranial primitive neuro-ectodermal tumors
Adamski, J. K., Ramaswamy, V., Huang, A., & Bouffet, É. (2014) · F1000Prime Reports · doi:10.12703/p6-56 · Cited by 14
Analog sensitive chemical inhibition of the DEAD ‐box protein DDX 3
Floor, S. N., Barkovich, K. J., Condon, K. J., Shokat, K. M., & Doudna, J. A. (2015) · Protein Science · doi:10.1002/pro.2857 · Cited by 14
A Proteogenomic Approach to Understanding MYC Function in Metastatic Medulloblastoma Tumors
Staal, J. A., Pei, Y., & Rood, B. R. (2016) · International Journal of Molecular Sciences · doi:10.3390/ijms17101744 · Cited by 16
Concurrent IDH1 and SMARCB1 Mutations in Pediatric Medulloblastoma: A Case Report
El‐Ayadi, M., Egervari, K. L., Merkler, D., McKee, T., Gumy‐Pause, F., Stichel, D., Capper, D., Pietsch, T., Ansari, M., & von Bueren, A. O. (2018) · Frontiers in Neurology · doi:10.3389/fneur.2018.00398 · Cited by 14
Genovesi, L. A., Millar, A., Tolson, E., Singleton, M., Hassall, E., Kojic, M., Brighi, C., Girard, E. J., Andradas, C., Kuchibhotla, M., et al. (2021) · Genome Medicine · doi:10.1186/s13073-021-00920-z · Cited by 13
Self-citationEpigenetics and immune cells in medulloblastoma
Gorini, F., Miceli, M., Antonellis, P. D., Amente, S., Zollo, M., & Ferrucci, V. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1135404 · Cited by 15
Matsuo, S., Takahashi, M., Inoue, K., Tamura, K., Irie, K., Kodama, Y., Nishikawa, A., & Yoshida, M. (2013) · Experimental and Toxicologic Pathology · doi:10.1016/j.etp.2012.12.005 · Cited by 14
Emerging functions of DNA transposases and oncogenic mutators in childhood cancer development
Henssen, A. G., & Kentsis, A. (2018) · JCI Insight · doi:10.1172/jci.insight.123172 · Cited by 14
Kinoshita, F., Kohashi, K., Sugimoto, M., Takamatsu, D., Kiyozawa, D., Eto, M., & Oda, Y. (2020) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-020-02839-z · Cited by 14
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Simard, J. M. (2015) · Neurology · doi:10.1212/wnl.0000000000001769 · Cited by 13
Ivkov, R., & Bunz, F. (2015) · Cell Cycle · doi:10.1080/15384101.2015.1068483 · Cited by 15
Buchhalter, I., Hutter, B., Alioto, T., Beck, T. A., Boutros, P. C., Brors, B., Butler, A. P., Chotewutmontri, S., Denroche, R. E., Derdak, S. V., et al. (2014) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/013177 · Cited by 14
Self-citationYao, Y., Wang, Y., Yang, F., Wang, C., Mao, M., Gai, Q., He, J., Qin, Y., Yao, X., Lan, X., et al. (2022) · CNS Neuroscience & Therapeutics · doi:10.1111/cns.13835 · Cited by 14
Cho, H., Shiraishi, K., Sunami, K., Momozawa, Y., Yoshida, T., Matsumoto, S., Matsuda, K., Saito, M., Goto, A., Honda, T., et al. (2025) · Journal of Thoracic Oncology · doi:10.1016/j.jtho.2025.06.005 · Cited by 13
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Barthelery, N. J., & Manfredi, J. J. (2016) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2016.03.006 · Cited by 13
MicroRNA–mRNA expression profiles associated with medulloblastoma subgroup 4
Gershanov, S., Toledano, H., Michowiz, S. D., Barinfeld, O., Pinhasov, A., Goldenberg‐Cohen, N., & Salmon‐Divon, M. (2018) · Cancer Management and Research · doi:10.2147/cmar.s156709 · Cited by 13
Goyal, A., Cajigas, I., Ibrahim, G. M., Brathwaite, C. D., Khatib, Z. A., Niazi, T. N., Bhatia, S., & Ragheb, J. R. (2018) · World Neurosurgery · doi:10.1016/j.wneu.2018.06.250 · Cited by 13
Vallée, A., Lecarpentier, Y., & Vallée, J.-N. (2021) · Biomedicines · doi:10.3390/biomedicines9060619 · Cited by 12
Epigenetic mechanisms in paediatric brain tumours: regulators lose control
Badodi, S., & Marino, S. (2022) · Biochemical Society Transactions · doi:10.1042/bst20201227 · Cited by 13
PRC2 Heterogeneity Drives Tumor Growth in Medulloblastoma
Yi, J., Kim, B., Shi, X., Zhan, X., Lu, Q. R., Xuan, Z., & Wu, J. I. (2022) · Cancer Research · doi:10.1158/0008-5472.can-21-4313 · Cited by 13
Lee, S. H., Lee, E. H., Lee, S. C., Lee, Y. M., Kim, H. D., & Kim, Y. Z. (2015) · Journal of Korean Medical Science · doi:10.3346/jkms.2015.30.8.1157 · Cited by 13
Self-citationThe Molecular Landscape of Pediatric Brain Tumors in the Next-Generation Sequencing Era
Firme, M. R., & Marra, M. A. (2014) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-014-0474-4 · Cited by 13
Approaches to integrating germline and tumor genomic data in cancer research
Feigelson, H. S., Goddard, K. A. B., Hollombe, C., Tingle, S. R., Gillanders, E. M., Mechanic, L. E., & Nelson, S. A. (2014) · Carcinogenesis · doi:10.1093/carcin/bgu165 · Cited by 14
Kim, J., Lee, S. C., Jang, J. H., Kim, M.-S., Lee, E. H., & Kim, Y. Z. (2016) · Journal of neurosurgery · doi:10.3171/2016.4.jns1652 · Cited by 13
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Pathania, A. S., Ren, X., Mahdi, M. Y., Shackleford, G. M., & Erdreich‐Epstein, A. (2019) · Scientific Reports · doi:10.1038/s41598-019-50157-5 · Cited by 14
Johann, P. D. (2020) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12616 · Cited by 15
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Gendoo, D. M. A., Smirnov, P., Lupien, M., & Haibe‐Kains, B. (2015) · Genomics · doi:10.1016/j.ygeno.2015.05.002 · Cited by 13
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Chicard, M., Iddir, Y., Masliah‐Planchon, J., Combaret, V., Attignon, V., Saint‐Charles, A., Frappaz, D., Faure‐Conter, C., Beccaria, K., Varlet, P., et al. (2023) · Cancers · doi:10.3390/cancers15133532 · Cited by 10
Qin, N., Paisana, E., Picard, D. J., Leprivier, G., Langini, M., Custódia, C., Cascão, R., Conrad, C., Peitzsch, M., Stefanski, A., et al. (2023) · Journal of Neuro-Oncology · doi:10.1007/s11060-023-04508-y · Cited by 11
Self-citationCastro‐Gamero, A. M., Borges, K. S., Lira, R. C. P., Andrade, A. F., Fedatto, P. F., Cruzeiro, G. A. V., Bonfim-Silva, R., Fontes, A. M., Valera, E. T., Bobola, M. S., et al. (2013) · Cytotechnology · doi:10.1007/s10616-012-9529-z · Cited by 12
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Martirosian, V., & Neman, J. (2018) · Cancer Reports · doi:10.1002/cnr2.1146 · Cited by 13
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Wijaya, J., Vo, B. T., Liu, J., Xu, B., Wu, G., Wang, Y., Peng, J., Zhang, J., Janke, L. J., Orr, B. A., et al. (2020) · Cancer Research · doi:10.1158/0008-5472.can-19-2054 · Cited by 14
Bibbò, F., Sorice, C., Ferrucci, V., & Zollo, M. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2021.758146 · Cited by 12
Hergalant, S., Saurel, C., Divoux, M., Rech, F., Pouget, C., Godfraind, C., Rouyer, P., Lacomme, S., Battaglia-Hsu, S.-F., & Gauchotte, G. (2022) · Cancers · doi:10.3390/cancers14246227 · Cited by 12
Cohen, P. R., & Kurzrock, R. (2015) · Dermatology and Therapy · doi:10.1007/s13555-015-0074-5 · Cited by 12
Nicotine induces alteration of H3K27 demethylase UTX in kidney cancer cell
Guo, X., Li, X., Wang, Y., Tian, Z., Duan, X., & Cai, Z. (2013) · Human & Experimental Toxicology · doi:10.1177/0960327113499043 · Cited by 12
Senfter, D., Erkan, E. P., Özer, E., Jungwirth, G., Madlener, S., Kool, M., Ströbel, T., Saydam, N., & Saydam, O. (2017) · Pediatric Blood & Cancer · doi:10.1002/pbc.26670 · Cited by 12
Self-citationOTX1 and OTX2 Genes in Medulloblastoma
Muoio, V., Uno, M., Oba‐Shinjo, S. M., da Silva, R., Pereira, B. J. A., Clara, C., Matushita, H., & Marie, S. K. N. (2019) · World Neurosurgery · doi:10.1016/j.wneu.2019.02.013 · Cited by 12
Ren, Y., Zhang, Y., Wang, D., Liu, F., Fu, Y., Xiang, S., Su, L., Li, J., Dai, H., & Huang, B. (2020) · Genomics, Proteomics & Bioinformatics · doi:10.1016/j.gpb.2020.02.003 · Cited by 8
Zapatka, M., Tausch, E., Öztürk, S., Yosifov, D. Y., Seiffert, M., Zenz, T., Schneider, C., Bloehdorn, J., Döhner, H., Mertens, D., et al. (2021) · Haematologica · doi:10.3324/haematol.2020.265777 · Cited by 12
Self-citationWerbowetski‐Ogilvie, T. E. (2021) · FEBS Journal · doi:10.1111/febs.15817 · Cited by 13
Deogharkar, A., Singh, S. V., Bharambe, H. S., Paul, R., Moiyadi, A. V., Goel, A. H., Shetty, P. M., Epari, S., Gupta, T., Jalali, R., et al. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab134 · Cited by 12
Wei, L., Murphy, B. L., Wu, G., Parker, M. D., Easton, J. B., Gilbertson, R. J., Zhang, J., & Roussel, M. F. (2017) · Oncotarget · doi:10.18632/oncotarget.19642 · Cited by 13
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Göbel, C., Godbole, S., Schoof, M., Holdhof, D., Kresbach, C., Loose, C., Neumann, J. E., & Schüller, U. (2023) · Acta Neuropathologica Communications · doi:10.1186/s40478-023-01654-2 · Cited by 11
Self-citationMYCN in human development and diseases
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Lee, B., Katsushima, K., Pokhrel, R., Yuan, M., Stapleton, S. L., Jallo, G. I., Wechsler‐Reya, R. J., Eberhart, C. G., Ray, A., & Perera, R. J. (2022) · Neuro-Oncology Advances · doi:10.1093/noajnl/vdac120 · Cited by 11
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Nicheperovich, A., & Townsend‐Nicholson, A. (2022) · Journal of Personalized Medicine · doi:10.3390/jpm12101648 · Cited by 11
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Chao, C., Tang, R., Zhao, J., Di, D., Qian, Y., & Wang, B. (2023) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2023.1087337 · Cited by 11
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Ruat, M., Faure, H., & Daynac, M. (2014) · Topics in medicinal chemistry · doi:10.1007/7355_2014_83 · Cited by 12
Shah, M. A., Denton, E., Liu, L., & Schapira, M. (2013) · Bioinformatics · doi:10.1093/bioinformatics/btt710 · Cited by 11
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Liu, S. M., Brooks, E. D., Rubin, M., Grosshans, D. R., Frank, S. J., McAleer, M. F., McGovern, S. L., Paulino, A. C., & Woodhouse, K. D. (2020) · International Journal of Particle Therapy · doi:10.14338/ijpt-20-00038.1 · Cited by 11
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Lehrach, H. (2013) · F1000Prime Reports · doi:10.12703/p5-34 · Cited by 12
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Lindroth, A. M., Park, Y. J., & Plass, C. (2014) · Epigenetics and human health · doi:10.1007/978-3-642-31974-7_9 · Cited by 12
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Beck, P., Selle, B., Madenach, L., Jones, D., Vokuhl, C., Gopisetty, A., Nabbi, A., Brecht, I. B., Ebinger, M., Wegert, J., et al. (2022) · iScience · doi:10.1016/j.isci.2022.104167 · Cited by 10
Self-citationShen, C., Xiao Hua, S. H. I., Wen, D., Zhang, Y., Du, Y., Zhang, Y., Ma, B., Tang, H., Yin, M., Huang, N., et al. (2023) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-23-2142 · Cited by 10
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Owens, M. C., Yanas, A. M., & Liu, K. F. (2024) · Nature Structural & Molecular Biology · doi:10.1038/s41594-024-01362-y · Cited by 11
Individualized discovery of rare cancer drivers in global network context
Petrov, I., & Alexeyenko, A. (2022) · eLife · doi:10.7554/elife.74010 · Cited by 9
Skorokhod, A., Helmbold, P., Brors, B., Schirmacher, P., Enk, A., & Penzel, R. (2013) · PLoS ONE · doi:10.1371/journal.pone.0059221 · Cited by 10
Self-citationThe landscape of histone acetylation involved in epithelial-mesenchymal transition in lung cancer
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Self-citation
Metadata
- Authors
- Jones, D. T. W., Jäger, N., Kool, M., Zichner, T., Hutter, B., Sultan, M., Cho, Y.-J., Pugh, T. J., Hovestadt, V., Stütz, A. M., Rausch, T., Warnatz, H.-J., Ryzhova, M., Bender, S., Sturm, D., Pleier, S., Cin, H., Pfaff, E., Sieber, L., Wittmann, A., Remke, M., Witt, H., Hutter, S., Tzaridis, T., Weischenfeldt, J., Raeder, B., Avci, M., Amstislavskiy, V., Zapatka, M., Weber, U. D., Wang, Q., Lasitschka, B., Bartholomae, C. C., Schmidt, M., von Kalle, C., Ast, V., Lawerenz, C., Eils, J., Kabbe, R., Benes, V., van Sluis, P., Koster, J., Volckmann, R., Shih, D., Betts, M. J., Russell, R. B., Coco, S., Paolo Tonini, G., Schüller, U., Hans, V., Graf, N., Kim, Y.-J., Monoranu, C., Roggendorf, W., Unterberg, A., Herold-Mende, C., Milde, T., Kulozik, A. E., von Deimling, A., Witt, O., Maass, E., Rössler, J., Ebinger, M., Schuhmann, M. U., Frühwald, M. C., Hasselblatt, M., Jabado, N., Rutkowski, S., von Bueren, A. O., Williamson, D., Clifford, S. C., McCabe, M. G., Peter Collins, V., Wolf, S., Wiemann, S., Lehrach, H., Brors, B., Scheurlen, W., Felsberg, J., Reifenberger, G., Northcott, P. A., Taylor, M. D., Meyerson, M., Pomeroy, S. L., Yaspo, M.-L., Korbel, J. O., Korshunov, A., Eils, R., Pfister, S. M., & Lichter, P.
- Affiliations
- German Cancer Research Center (DE)
- European Molecular Biology Laboratory (DE)
- Max Planck Institute for Molecular Genetics (DE)
- Stanford University (US)
- Broad Institute (US)
- Burdenko Neurosurgery Institute (RU)
- Amsterdam UMC Location University of Amsterdam (NL)
- Hospital for Sick Children (CA)
- Heidelberg University (DE)
- Ospedale Policlinico San Martino (IT)
- Institut für Neuropathologie (DE)
- Evangelisches Krankenhaus Bielefeld (DE)
- Universitätsklinikum des Saarlandes (DE)
- University of Würzburg (DE)
- University Hospital Heidelberg (DE)
- Olgahospital (DE)
- University Medical Center Freiburg (DE)
- University Children's Hospital Tübingen (DE)
- University Hospital Münster (DE)
- McGill University Health Centre (CA)
- University Medical Center Hamburg-Eppendorf (DE)
- Royal Victoria Infirmary (GB)
- University of Cambridge (GB)
- Cnopf´sche Kinderklinik (DE)
- Heinrich Heine University Düsseldorf (DE)
- Corresponding author
- Eils, Roland
- Pfister, Stefan M.
- Lichter, Peter
- ORCID
- Jones, David T. W.
- Jäger, Natalie
- Kool, Marcel
- Zichner, Thomas
- Hutter, Barbara
- Sultan, Marc
- Cho, Yoon-Jae
- Pugh, Trevor J.
- Hovestadt, Volker
- Stütz, Adrian M.
- Rausch, Tobias
- Warnatz, Hans-Jörg
- Ryzhova, Marina
- Sturm, Dominik
- Pfaff, Elke
- Remke, Marc
- Witt, Hendrik
- Hutter, Sonja
- Tzaridis, Theophilos
- Weischenfeldt, Joachim
- Raeder, Benjamin
- Amstislavskiy, Vyacheslav
- Zapatka, Marc
- Wang, Qi
- Schmidt, Manfred
- Ast, Volker
- Kabbe, Rolf
- Volckmann, Richard
- Shih, David
- Betts, Matthew J.
- Russell, Robert B.
- Coco, Simona
- Schüller, Ulrich
- Graf, Norbert
- Kim, Yoo-Jin
- Unterberg, Andreas
- Milde, Till
- Kulozik, Andreas E.
- Witt, Olaf
- Rössler, Jochen
- Ebinger, Martin
- Schuhmann, Martin U.
- Frühwald, Michael C.
- Hasselblatt, Martin
- Jabado, Nada
- Rutkowski, Stefan
- Clifford, Steven C.
- McCabe, Martin G.
- Wiemann, Stefan
- Brors, Benedikt
- Felsberg, Jörg
- Reifenberger, Guido
- Northcott, Paul A.
- Taylor, Michael D.
- Meyerson, Matthew
- Pomeroy, Scott L.
- Yaspo, Marie-Laure
- Korbel, Jan O.
- Korshunov, Andrey
- Eils, Roland
- Pfister, Stefan M.
- Lichter, Peter
- Venue
- Nature
- Published
- 2012-07-25
- Volume
- 488
- Issue
- 7409
- Pages
- 100-105
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC3662966
- OpenAlex
- W2167532631
- Cited by
- 839
- References
- 27
- Citations by year
- 2026: 8 · 2025: 31 · 2024: 28 · 2023: 41 · 2022: 42 · 2021: 60 · 2020: 51 · 2019: 49 · 2018: 69 · 2017: 73 · 2016: 86 · 2015: 81 · 2014: 89 · 2013: 102 · 2012: 28
- FWCI
- 45.68
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Nature (publishedVersion, cc-by-nc-sa)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion, cc-by)
- OPUS (Augsburg University) (submittedVersion, cc-by-nc-sa)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Pediatric Brain Tumor Foundation
- Deutsches Krebsforschungszentrum
- Children's Cancer and Leukaemia Group
- Cancer Research UK (13457)
- Brain Tumour Charity (16/92, 10/106)
- Bundesministerium für Bildung und Forschung (01GS0883)
- Hungarian Scientific Research Fund
- Max-Planck-Gesellschaft
- Deutsche Krebshilfe (109252)
- Heidelberger Zentrum für Personalisierte Onkologie Deutsches Krebsforschungszentrum In Der Helmholtz-Gemeinschaft
- National Cancer Institute (R01CA109467)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P30HD018655)
- Topics
- Health Sciences › Medicine › Oncology › Glioma Diagnosis and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Keywords
- medulloblastoma, Group 3 medulloblastoma, Group 4 medulloblastoma, tetraploidy, somatic copy number alterations, TGF-beta signaling, NF-κB signaling, recurrent mutations, pediatric brain tumors, tumor heterogeneity
- MeSH terms
- Patched Receptors, Patched-1 Receptor, Aging, Amino Acid Sequence, Cell Transformation, Neoplastic, Cerebellar Neoplasms, Child, Chromatin, Chromosomes, Human, DNA Helicases, DNA-Binding Proteins, Humans, Medulloblastoma, Methylation, Mutation, Neoplasm Proteins, Nuclear Proteins, Phosphoprotein Phosphatases, Polyploidy, Receptors, Cell Surface, Transcription Factors, Signal Transduction, Oncogene Proteins, Fusion, Genome, Human, Sequence Analysis, RNA, T-Box Domain Proteins, Genomics, Wnt Proteins, beta Catenin, DEAD-box RNA Helicases, Hedgehog Proteins, Histone Demethylases, High-Throughput Nucleotide Sequencing, Mutation Rate
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