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Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma
Open accessAbstract
Medulloblastoma is a highly malignant paediatric brain tumour currently treated with a combination of surgery, radiation and chemotherapy, posing a considerable burden of toxicity to the developing child. Genomics has illuminated the extensive intertumoral heterogeneity of medulloblastoma, identifying four distinct molecular subgroups. Group 3 and group 4 subgroup medulloblastomas account for most paediatric cases; yet, oncogenic drivers for these subtypes remain largely unidentified. Here we describe a series of prevalent, highly disparate genomic structural variants, restricted to groups 3 and 4, resulting in specific and mutually exclusive activation of the growth factor independent 1 family proto-oncogenes, GFI1 and GFI1B. Somatic structural variants juxtapose GFI1 or GFI1B coding sequences proximal to active enhancer elements, including super-enhancers, instigating oncogenic activity. Our results, supported by evidence from mouse models, identify GFI1 and GFI1B as prominent medulloblastoma oncogenes and implicate 'enhancer hijacking' as an efficient mechanism driving oncogene activation in a childhood cancer.
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“studies have shown that the ‘hijacking’ of enhancers can lead to overexpression of oncogenes (for example, growth factor independent 1 family oncogenes (GFI1 and GFI1B)) in medulloblastoma13”
From Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer (2020) · cites this paper as [13]
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Citations
Cites
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607
Subramanian, A., Tamayo, P., Mootha, V. K., Mukherjee, S., Ebert, B. L., Gillette, M. A., Paulovich, A., Pomeroy, S. L., Golub, T. R., Lander, E. S., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0506580102 · Cited by 53,625
BEDTools: a flexible suite of utilities for comparing genomic features
Quinlan, A. R., & Hall, I. M. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq033 · Cited by 27,437
Ostrom, Q. T., Gittleman, H. R., Farah, P., Ondracek, A., Chen, Y., Wolinsky, Y., Stroup, N. E., Kruchko, C., & Barnholtz‐Sloan, J. S. (2013) · Neuro-Oncology · doi:10.1093/neuonc/not151 · Cited by 12,063
An integrated map of genetic variation from 1,092 human genomes
The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711
Bismark: a flexible aligner and methylation caller for Bisulfite-Seq applications
Krueger, F., & Andrews, S. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr167 · Cited by 5,324
Master Transcription Factors and Mediator Establish Super-Enhancers at Key Cell Identity Genes
Whyte, W. A., Orlando, D. A., Hnisz, D., Abraham, B. J., Lin, C. Y., Kagey, M. H., Rahl, P. B., Lee, T. I., & Young, R. A. (2013) · Cell · doi:10.1016/j.cell.2013.03.035 · Cited by 4,143
Super-enhancers in the control of cell identity and disease
Hnisz, D., Abraham, B. J., Lee, T. I., Lau, A., Saint-André, V., Sigova, A. A., Hoke, H. A., & Young, R. A. (2013) · Cell · doi:10.1016/j.cell.2013.09.053 · Cited by 3,662
A gene atlas of the mouse and human protein-encoding transcriptomes
Su, A. I., Wiltshire, T., Batalov, S., Lapp, H., Ching, K. A., Block, D., Zhang, J., Soden, R., Hayakawa, M., Kreiman, G., et al. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0400782101 · Cited by 3,475
Mapping and analysis of chromatin state dynamics in nine human cell types
Ernst, J., Kheradpour, P., Mikkelsen, T. S., Shoresh, N., Ward, L. D., Epstein, C. B., Zhang, X., Wang, L., Issner, R., Coyne, M., et al. (2011) · Nature · doi:10.1038/nature09906 · Cited by 2,898
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Yi, K., & Ju, Y. S. (2018) · Experimental & Molecular Medicine · doi:10.1038/s12276-018-0112-3 · Cited by 108
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Targeting Super-Enhancers for Disease Treatment and Diagnosis.
Shin, H. Y. (2018) · Europe PMC (PubMed Central) · doi:10.14348/molcells.2018.2297 · Cited by 101
Okabe, A., Huang, K., Matsusaka, K., Masaki, F., Xing, M., Ong, X., Hoshii, T., Usui, G., Seki, M., Mano, Y., et al. (2020) · Nature Genetics · doi:10.1038/s41588-020-0665-7 · Cited by 88
Structural variants drive context-dependent oncogene activation in cancer
Xu, Z., Lee, D.-S., Chandran, S., Le, V. T., Bump, R., Yasis, J., Dallarda, S., Marcotte, S., Clock, B., Haghani, N. K., et al. (2022) · Nature · doi:10.1038/s41586-022-05504-4 · Cited by 98
Sequencing Structural Variants in Cancer for Precision Therapeutics
Macintyre, G., Ylstra, B., & Brenton, J. D. (2016) · Trends in Genetics · doi:10.1016/j.tig.2016.07.002 · Cited by 97
Zhu, H., Uusküla-Reimand, L., Isaev, K., Wadi, L., Alizada, A., Shuai, S., Huang, V., Aduluso-Nwaobasi, D., Paczkowska, M., Abd-Rabbo, D., et al. (2020) · Molecular Cell · doi:10.1016/j.molcel.2019.12.027 · Cited by 100
Single-cell analysis of structural variations and complex rearrangements with tri-channel processing
Sanders, A. D., Meiers, S., Ghareghani, M., Porubskỳ, D., Jeong, H., Vliet, A. V., Rausch, T., Richter‐Pechańska, P., Kunz, J. B., Jenni, S., et al. (2019) · Nature Biotechnology · doi:10.1038/s41587-019-0366-x · Cited by 95
Self-citationStructural Variation in Cancer: Role, Prevalence, and Mechanisms
Cosenza, M. R., Rodríguez–Martín, B., & Korbel, J. O. (2022) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-120121-101149 · Cited by 99
Self-citationTargeting class I histone deacetylase 2 in MYC amplified group 3 medulloblastoma
Ecker, J., Oehme, I., Mazitschek, R., Korshunov, A., Kool, M., Hielscher, T., Kiss, J., Selt, F., Konrad, C., Lodrini, M., et al. (2015) · Acta Neuropathologica Communications · doi:10.1186/s40478-015-0201-7 · Cited by 92
Self-citationDemystifying the secret mission of enhancers: linking distal regulatory elements to target genes
Yao, L., Berman, B. P., & Farnham, P. (2015) · Critical Reviews in Biochemistry and Molecular Biology · doi:10.3109/10409238.2015.1087961 · Cited by 93
Oncogenic super-enhancer formation in tumorigenesis and its molecular mechanisms
Jia, Q., Chen, S., Tan, Y., Li, Y., & Tang, F. (2020) · Experimental & Molecular Medicine · doi:10.1038/s12276-020-0428-7 · Cited by 92
Thirant, C., Ignacimouttou, C., Lopez, C. K., Diop, M. K., Mouël, L. L., Thiollier, C., Siret, A., Dessen, P., Aid, Z., Rivière, J., et al. (2017) · Cancer Cell · doi:10.1016/j.ccell.2017.02.006 · Cited by 93
Emergence of the Noncoding Cancer Genome: A Target of Genetic and Epigenetic Alterations
Zhou, S., Treloar, A. E., & Lupien, M. (2016) · Cancer Discovery · doi:10.1158/2159-8290.cd-16-0745 · Cited by 89
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Arabzade, A., Zhao, Y., Varadharajan, S., Chen, H., Jessa, S., Rivas, B. L., Stuckert, A. J., Solis, M., Kardian, A., Tlais, D., et al. (2021) · Cancer Discovery · doi:10.1158/2159-8290.cd-20-1066 · Cited by 91
Self-citationCancer Evolution: A Multifaceted Affair
Ciriello, G., Magnani, L., Aitken, S. J., Akkari, L., Behjati, S., Hanahan, D., Landau, D. A., López-Bigas, N., Lupiáñez, D. G., Marine, J., et al. (2023) · Cancer Discovery · doi:10.1158/2159-8290.cd-23-0530 · Cited by 91
INO80 governs superenhancer-mediated oncogenic transcription and tumor growth in melanomaPreprint
Zhou, B., Wang, L., Zhang, S., Bennett, B. D., He, F., Zhang, Y., Xiong, C., Han, L., Diao, L., Li, P., et al. (2016) · Genes & Development · doi:10.1101/gad.277178.115 · Cited by 92
Human PGBD5 DNA transposase promotes site-specific oncogenic mutations in rhabdoid tumors
Henssen, A. G., Koche, R. P., Zhuang, J., Jiang, E., Reed, C., Eisenberg, A., Still, E., MacArthur, I. C., Rodríguez-Fos, E., González, S., et al. (2017) · Nature Genetics · doi:10.1038/ng.3866 · Cited by 89
Williamson, D., Schwalbe, E. C., Hicks, D., Aldinger, K. A., Lindsey, J. C., Crosier, S., Richardson, S., Goddard, J., Hill, R. M., Castle, J., et al. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.111162 · Cited by 87
Advances in the molecular classification of pediatric brain tumors: a guide to the galaxy
Cacciotti, C., Fleming, A. J., & Ramaswamy, V. (2020) · The Journal of Pathology · doi:10.1002/path.5457 · Cited by 92
Chromatin architecture transitions from zebrafish sperm through early embryogenesisPreprint
Wike, C. L., Guo, Y., Tan, M., Nakamura, R., Shaw, D. K., Díaz, N., Whittaker-Tademy, A. F., Durand, N. C., Aiden, E. L., Vaquerizas, J. M., et al. (2021) · Genome Research · doi:10.1101/gr.269860.120 · Cited by 87
Mutations in the noncoding genome
Scacheri, C., & Scacheri, P. C. (2015) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000000283 · Cited by 103
Illuminating the noncoding genome in cancer
Zhang, X., & Meyerson, M. M. (2020) · Nature Cancer · doi:10.1038/s43018-020-00114-3 · Cited by 86
Epigenomic landscape and 3D genome structure in pediatric high-grade glioma
Wang, J., Huang, T., Hou, Y., Bartom, E. T., Lu, X., Shilatifard, A., Yue, F., & Saratsis, A. M. (2021) · Science Advances · doi:10.1126/sciadv.abg4126 · Cited by 89
Zhang, T., Xia, W., Song, X., Mao, Q., Huang, X., Chen, B., Liang, Y., Wang, H., Chen, Y., Yu, X., et al. (2022) · Journal of Hematology & Oncology · doi:10.1186/s13045-022-01331-2 · Cited by 85
Lsd1 as a therapeutic target in Gfi1-activated medulloblastoma
Lee, C., Rudneva, V. A., Erkek, S., Zapatka, M., Chau, L. Q., Tacheva-Grigorova, S. K., Garancher, A., Rusert, J. M., Aksoy, O., Lea, R., et al. (2019) · Nature Communications · doi:10.1038/s41467-018-08269-5 · Cited by 84
Self-citationSin‐Chan, P., Mumal, I., Suwal, T., Ho, B., Fan, X., Singh, I., Du, Y., Lu, M., Patel, N., Torchia, J., et al. (2019) · Cancer Cell · doi:10.1016/j.ccell.2019.06.002 · Cited by 84
Self-citationIncreased enhancer–promoter interactions during developmental enhancer activation in mammals
Chen, Z., Snetkova, V., Bower, G., Jacinto, S. H., Clock, B., Dizehchi, A., Barozzi, I., Mannion, B. J., Alcaina‐Caro, A., López-Ríos, J., et al. (2024) · Nature Genetics · doi:10.1038/s41588-024-01681-2 · Cited by 98
Inactivation of Ezh2 Upregulates Gfi1 and Drives Aggressive Myc-Driven Group 3 Medulloblastoma
Vo, B. T., Li, C., Morgan, M. A., Theurillat, I., Finkelstein, D., Wright, S., Hyle, J. W., Smith, S. M. C., Fan, Y., Wang, Y., et al. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.02.073 · Cited by 86
Self-citationChallenges and Recent Advances in Medulloblastoma Therapy
Kumar, V., Kumar, V., McGuire, T. R., Coulter, D. W., Sharp, J. G., & Mahato, R. I. (2017) · Trends in Pharmacological Sciences · doi:10.1016/j.tips.2017.09.002 · Cited by 85
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Vo, B. T., Wolf, E., Kawauchi, D., Gebhardt, A., Rehg, J. E., Finkelstein, D., Walz, S., Murphy, B. L., Youn, Y. H., Han, Y.-G., et al. (2016) · Cancer Cell · doi:10.1016/j.ccell.2015.12.003 · Cited by 86
Self-citationZhang, Y., Yang, L., Kucherlapati, M. H., Chen, F., Hadjipanayis, A. G., Pantazi, A., Bristow, C. A., Lee, E. A., Mahadeshwar, H. S., Tang, J., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.06.025 · Cited by 84
Transcriptional control by enhancers and enhancer RNAs
Lewis, M. W., Shen, L., & Franco, H. L. (2019) · Transcription · doi:10.1080/21541264.2019.1695492 · Cited by 84
Northcott, P. A., Pfister, S. M., & Jones, D. (2015) · The Lancet Oncology · doi:10.1016/s1470-2045(14)71206-9 · Cited by 80
Self-citationEpigenetic Drivers in Pediatric Medulloblastoma
Roussel, M. F., & Stripay, J. L. (2017) · The Cerebellum · doi:10.1007/s12311-017-0899-9 · Cited by 76
Yang, H., Zhang, H., Luan, Y., Liu, T., Yang, W., Roberts, K. G., Qian, M., Zhang, B., Yang, W., Pérez-Andreu, V., et al. (2022) · Nature Genetics · doi:10.1038/s41588-021-00993-x · Cited by 75
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Choi, J. Y. (2023) · Brain Tumor Research and Treatment · doi:10.14791/btrt.2022.0046 · Cited by 75
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Krumm, A., & Duan, Z. (2018) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2018.07.004 · Cited by 76
Zhang, Y., Chen, F., Fonseca, N. A., He, Y., Fujita, M., Nakagawa, H., Zhang, Z., Brāzma, A., PCAWG Transcriptome Working Group, Amin, S. B., et al. (2020) · Nature Communications · doi:10.1038/s41467-019-13885-w · Cited by 75
Self-citationGuo, Y., Perez, A. A., Hazelett, D., Coetzee, G., Rhie, S., & Farnham, P. (2018) · Genome Biology · doi:10.1186/s13059-018-1531-0 · Cited by 71
Mazrooei, P., Kron, K. J., Zhu, Y., Zhou, S., Grillo, G., Mehdi, T., Ahmed, M., Severson, T., Guilhamon, P., Armstrong, N. S., et al. (2019) · Cancer Cell · doi:10.1016/j.ccell.2019.10.005 · Cited by 73
Circular extrachromosomal DNA promotes tumor heterogeneity in high-risk medulloblastoma
Chapman, O. S., Luebeck, J., Sridhar, S., Wong, I. T., Dixit, D., Wang, S., Prasad, G., Rajkumar, U., Pagadala, M., Larson, J. D., et al. (2023) · Nature Genetics · doi:10.1038/s41588-023-01551-3 · Cited by 77
Self-citationMedulloblastoma: optimizing care with a multidisciplinary approach
Thomas, A., & Noël, G. (2019) · Journal of Multidisciplinary Healthcare · doi:10.2147/jmdh.s167808 · Cited by 72
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Niederriter, A. R., Varshney, A., Parker, S. C. J., & Martin, D. M. (2015) · Genes · doi:10.3390/genes6041183 · Cited by 75
Garancher, A., Lin, C. Y., Morabito, M., Richer, W., Rocques, N., Larcher, M., Bihannic, L., Smith, K. S., Miquel, C., Leboucher, S., et al. (2018) · Cancer Cell · doi:10.1016/j.ccell.2018.02.006 · Cited by 72
Self-citationMedulloblastoma genomics in the modern molecular era
Kumar, R., Liu, A. P. Y., & Northcott, P. A. (2019) · Brain Pathology · doi:10.1111/bpa.12804 · Cited by 72
Self-citationSungalee, S., Liu, Y., Lambuta, R. A., Katanayeva, N., Donaldson Collier, M., Tavernari, D., Roulland, S., Ciriello, G., & Oricchio, E. (2021) · Nature Genetics · doi:10.1038/s41588-021-00842-x · Cited by 70
Order and disorder: abnormal 3D chromatin organization in human disease
Anania, C., & Lupiáñez, D. G. (2019) · Briefings in Functional Genomics · doi:10.1093/bfgp/elz028 · Cited by 74
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Smith, K. S., Xu, K., Mercer, K., Boop, F. A., Klimo, P., DeCupyere, M., Grenet, J. A., Robinson, S., Dunphy, P. S., Baker, S. J., et al. (2020) · Acta Neuropathologica · doi:10.1007/s00401-020-02171-5 · Cited by 69
Self-citationYing, Y., Wang, Y., Huang, X., Sun, Y., Zhang, J., Li, M., Zeng, J., Wang, M., Xiao, W., Zhong, L., et al. (2019) · Oncogene · doi:10.1038/s41388-019-1013-1 · Cited by 69
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Weishaupt, H., Johansson, P., Sundström, A., Lubovac-Pilav, Z., Olsson, B. E., Nelander, S., & Swartling, F. J. (2019) · Bioinformatics · doi:10.1093/bioinformatics/btz066 · Cited by 65
Langenberg, K. P. S., Meister, M. T., Bakhuizen, J. J., Boer, J. M., van Eijkelenburg, N. K. A., Hulleman, E., Ilan, U., Looze, E. J., Dierselhuis, M. P., van der Lugt, J., et al. (2022) · European Journal of Cancer · doi:10.1016/j.ejca.2022.09.001 · Cited by 70
Self-citationMolecular mechanisms and therapeutic targets in pediatric brain tumors
Liu, K.-W., Pajtler, K. W., Worst, B. C., Pfister, S. M., & Wechsler‐Reya, R. J. (2017) · Science Signaling · doi:10.1126/scisignal.aaf7593 · Cited by 67
Self-citationThe role of angiogenesis in Group 3 medulloblastoma pathogenesis and survival
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Self-citationNovel MYC-driven medulloblastoma models from multiple embryonic cerebellar cells
Kawauchi, D., Ogg, R. J., Liu, L.-T., Shih, D. J. H., Finkelstein, D., Murphy, B. L., Rehg, J. E., Korshunov, A., Calabrese, C. R., Zindy, F., et al. (2017) · Oncogene · doi:10.1038/onc.2017.110 · Cited by 65
Self-citationSpirits in the Material World: Enhancer RNAs in Transcriptional Regulation
Hou, T. Y., & Kraus, W. L. (2020) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2020.08.007 · Cited by 66
Menyhárt, O., Giangaspero, F., & Győrffy, B. (2019) · Journal of Hematology & Oncology · doi:10.1186/s13045-019-0712-y · Cited by 64
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Kaiser, V. B., & Semple, C. A. (2017) · F1000Research · doi:10.12688/f1000research.10792.1 · Cited by 64
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Liu, Y., Li, C., Shen, S., Chen, X., Szlachta, K., Edmonson, M. N., Shao, Y., Ma, X., Hyle, J., Wright, S., et al. (2020) · Nature Genetics · doi:10.1038/s41588-020-0659-5 · Cited by 64
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Yang, L. (2020) · Current Protocols in Human Genetics · doi:10.1002/cphg.103 · Cited by 66
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Friedman, M. J., Wagner, T., Lee, H., Rosenfeld, M. G., & Oh, S. (2024) · Experimental & Molecular Medicine · doi:10.1038/s12276-024-01233-y · Cited by 61
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He, Y., Long, W., & Liu, Q. (2019) · Frontiers in Pharmacology · doi:10.3389/fphar.2019.00361 · Cited by 63
Galupa, R., Nora, E. P., Worsley-Hunt, R., Picard, C., Gard, C., van Bemmel, J. G., Servant, N., Zhan, Y., Marjou, F. E., Johanneau, C., et al. (2019) · Molecular Cell · doi:10.1016/j.molcel.2019.10.030 · Cited by 71
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Chiang, J., & Ellison, D. W. (2016) · The Journal of Pathology · doi:10.1002/path.4813 · Cited by 63
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Vadnais, C., Chen, R., Fraszczak, J., Yu, Z., Boulais, J., Pinder, J. B., Frank, D., Khandanpour, C., Hébert, J., Dellaire, G., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-03817-5 · Cited by 64
Ahmed, M., Soares, F., Xia, J., Yang, Y., Li, J., Guo, H., Su, P., Tian, Y., Lee, H. J., Wang, M., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-21867-0 · Cited by 61
Vos, E. S. M., Valdes‐Quezada, C., Huang, Y., Allahyar, A., Verstegen, M. J. A. M., Felder, A.-K., van der Vegt, F., Uijttewaal, E. C. H., Krijger, P. H. L., & de Laat, W. L. (2021) · Molecular Cell · doi:10.1016/j.molcel.2021.06.008 · Cited by 61
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Hama, N., Totoki, Y., Miura, F., Tatsuno, K., Saito-Adachi, M., Nakamura, H., Arai, Y., Hosoda, F., Urushidate, T., Ohashi, S., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-03999-y · Cited by 60
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Thorbinson, C., & Kilday, J. (2021) · Cancers · doi:10.3390/cancers13236099 · Cited by 63
Kaiser, V., & Semple, C. (2017) · Genome Biology · doi:10.1186/s13059-018-1483-4 · Cited by 52
Lazow, M., Palmer, J. D., Fouladi, M., & Salloum, R. (2022) · Neurotherapeutics · doi:10.1007/s13311-022-01273-0 · Cited by 58
Khatua, S., Song, A., Sridhar, D. C., & Mack, S. C. (2018) · Current Neuropharmacology · doi:10.2174/1570159x15666171129111324 · Cited by 59
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Pozo, K., Kollipara, R. K., Kelenis, D. P., Rodarte, K. E., Ullrich, M. S., Zhang, X., Minna, J. D., & Johnson, J. E. B. (2021) · iScience · doi:10.1016/j.isci.2021.102953 · Cited by 58
Kycia, I., Wolford, B. N., Huyghe, J. R., Fuchsberger, C., Vadlamudi, S., Kursawe, R., Welch, R., Albanus, R. D., Uyar, A., Khetan, S., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.02.020 · Cited by 58
Pan-3D genome analysis reveals structural and functional differentiation of soybean genomes
Ni, L., Liu, Y.-C., Ma, X., Liu, T.-F., Yang, X., Wang, Z., Liang, Q.-J., Liu, S.-L., Zhang, M., Wang, Z., et al. (2023) · Genome Biology · doi:10.1186/s13059-023-02854-8 · Cited by 53
Medulloblastoma: Tumor Biology and Relevance to Treatment and Prognosis Paradigm
Coluccia, D., Figuereido, C., Işık, S., Smith, C. A., & Rutka, J. T. (2016) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-016-0644-7 · Cited by 57
Chromatin Conformation in Development and Disease
Boltsis, I., Grosveld, F. G., Giraud, G., & Kolovos, P. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.723859 · Cited by 59
Zhang, S., Pei, Z., Lei, C., Zhu, S., Deng, K., Zhou, J., Yang, H. J., Lu, D., Sun, X., Xu, C., et al. (2022) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2022-108553 · Cited by 56
3D genome and its disorganization in diseases
Li, R., Liu, Y., Hou, Y., Gan, J., Wu, P., & Cheng, L. (2018) · Cell Biology and Toxicology · doi:10.1007/s10565-018-9430-4 · Cited by 56
Chromothripsis-Mediated Small Cell Lung Carcinoma
Rekhtman, N., Tischfield, S. E., Febres‐Aldana, C. A., Lee, J. J.-K., Chang, J. C., Herzberg, B. O., Selenica, P., Woo, H. J., Vanderbilt, C., Yang, S., et al. (2024) · Cancer Discovery · doi:10.1158/2159-8290.cd-24-0286 · Cited by 57
Yang, L., Chen, F., Zhu, H.-C., Chen, Y., Dong, B., Shi, M.-L., Wang, W., Jiang, Q., Zhang, L.-P., Huang, X., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-24044-5 · Cited by 44
Self-citationGene regulation on extrachromosomal DNA
Hung, K. L., Mischel, P. S., & Chang, H. Y. (2022) · Nature Structural & Molecular Biology · doi:10.1038/s41594-022-00806-7 · Cited by 56
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Tao, R., Murad, N., Xu, Z., Zhang, P., Okonechnikov, K., Kool, M., Rivero-Hinojosa, S., Lazarski, C. A., Zheng, P., Liu, Y., et al. (2019) · Cancer Research · doi:10.1158/0008-5472.can-18-1787 · Cited by 53
Self-citationThe oncogenic fusion landscape in pediatric CNS neoplasms
Roosen, M. M., Odé, Z., Bunt, J., & Kool, M. (2022) · Acta Neuropathologica · doi:10.1007/s00401-022-02405-8 · Cited by 53
Self-citationPrecision medicine in pediatric oncology
Burdach, S. E. G., Westhoff, M., Steinhauser, M., & Debatin, K. (2018) · Molecular and Cellular Pediatrics · doi:10.1186/s40348-018-0084-3 · Cited by 53
Developmental origins and oncogenic pathways in malignant brain tumors
Lu, Q. R., Qian, L., & Zhou, X. (2019) · Wiley Interdisciplinary Reviews Developmental Biology · doi:10.1002/wdev.342 · Cited by 55
Zhang, Y., Breitling, L. P., Balavarca, Y., Holleczek, B., Schöttker, B., & Brenner, H. (2016) · International Journal of Cancer · doi:10.1002/ijc.30374 · Cited by 50
Alaei-Mahabadi, B., Bhadury, J., Karlsson, J. W., Nilsson, J. A., & Larsson, E. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1606220113 · Cited by 52
Genomics of adult and pediatric solid tumors.
Rahal, Z., Abdulhai, F., Kadara, H. N., & Saab, R. H. (2018) · Europe PMC (PubMed Central) · Cited by 52
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Wang, M., Chen, Q., Wang, S., Xie, H., Liu, J., Huang, R., Xiang, Y., Jiang, Y., Tian, D., & Bian, E. (2023) · Journal of Experimental & Clinical Cancer Research · doi:10.1186/s13046-023-02763-5 · Cited by 51
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Roussel, M. F., & Stripay, J. L. (2019) · Brain Pathology · doi:10.1111/bpa.12803 · Cited by 49
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Ulahannan, N., Pendleton, M., Deshpande, A. S., Schwenk, S., Behr, J. M., Dai, X., Tyer, C., Rughani, P., Kudman, S., Adney, E. M., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/833590 · Cited by 51
Kawazu, M., Kojima, S., Ueno, T., Totoki, Y., Nakamura, H. K., Kunita, A., Qü, W., Yoshimura, J., Soda, M., Yasuda, T., et al. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1006853 · Cited by 48
Lee, A. Y., Ewing, A. D., Ellrott, K., Hu, Y., Houlahan, K. E., Bare, J. C., Espiritu, S. M. G., Huang, V., Dang, K., Chong, Z., et al. (2018) · Genome biology · doi:10.1186/s13059-018-1539-5 · Cited by 48
Ooi, W. F., Nargund, A. M., Lim, K. J., Zhang, S., Xing, M., Mandoli, A., Lim, J. Q., Ho, S. W. T., Guo, Y. A., Yao, X., et al. (2019) · Gut · doi:10.1136/gutjnl-2018-317612 · Cited by 49
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Gryder, B., Wachtel, M., Chang, K., Demerdash, O. E., Aboreden, N. G., Mohammed, W., Ewert, W., Pomella, S., Rota, R., Wei, J. S., et al. (2020) · iScience · doi:10.1016/j.isci.2020.101103 · Cited by 41
Fang, F. Y., Rosenblum, J. S., Ho, W. S., & Heiss, J. D. (2022) · Cancers · doi:10.3390/cancers14092285 · Cited by 48
Molecular Stratification of Medulloblastoma: Clinical Outcomes and Therapeutic Interventions
Sursal, T., Ronecker, J. S., Dicpinigaitis, A. J., MOHAN, A. L., Tobias, M. E., Gandhi, C. D., & Jhanwar‐Uniyal, M. (2022) · Anticancer Research · doi:10.21873/anticanres.15703 · Cited by 47
Metadata
- Authors
- Northcott, P. A., Lee, C., Zichner, T., Stütz, A. M., Erkek, S., Kawauchi, D., Shih, D. J. H., Hovestadt, V., Zapatka, M., Sturm, D., Jones, D. T. W., Kool, M., Remke, M., Cavalli, F. M. G., Zuyderduyn, S., Bader, G. D., VandenBerg, S., Esparza, L. A., Ryzhova, M., Wang, W., Wittmann, A., Stark, S., Sieber, L., Seker-Cin, H., Linke, L., Kratochwil, F., Jäger, N., Buchhalter, I., Imbusch, C. D., Zipprich, G., Raeder, B., Schmidt, S., Diessl, N., Wolf, S., Wiemann, S., Brors, B., Lawerenz, C., Eils, J., Warnatz, H.-J., Risch, T., Yaspo, M.-L., Weber, U. D., Bartholomae, C. C., von Kalle, C., Turányi, E., Hauser, P., Sanden, E., Darabi, A., Siesjö, P., Sterba, J., Zitterbart, K., Sumerauer, D., van Sluis, P., Versteeg, R., Volckmann, R., Koster, J., Schuhmann, M. U., Ebinger, M., Grimes, H. L., Robinson, G. W., Gajjar, A., Mynarek, M., von Hoff, K., Rutkowski, S., Pietsch, T., Scheurlen, W., Felsberg, J., Reifenberger, G., Kulozik, A. E., von Deimling, A., Witt, O., Eils, R., Gilbertson, R. J., Korshunov, A., Taylor, M. D., Lichter, P., Korbel, J. O., Wechsler-Reya, R. J., & Pfister, S. M.
- Affiliations
- German Cancer Research Center (DE)
- Sanford Burnham Prebys Medical Discovery Institute (US)
- European Molecular Biology Laboratory (DE)
- Hospital for Sick Children (CA)
- University of Toronto (CA)
- University of California San Diego (US)
- Burdenko Neurosurgery Institute (RU)
- Max Planck Institute for Molecular Genetics (DE)
- Semmelweis University (HU)
- Lund University (SE)
- Masaryk University (CZ)
- Charles University (CZ)
- Amsterdam UMC Location University of Amsterdam (NL)
- Universitätsklinikum Tübingen (DE)
- Cincinnati Children's Hospital Medical Center (US)
- St. Jude Children's Research Hospital (US)
- University Medical Center Hamburg-Eppendorf (DE)
- University of Bonn (DE)
- Cnopf´sche Kinderklinik (DE)
- Heinrich Heine University Düsseldorf (DE)
- University Hospital Heidelberg (DE)
- Heidelberg University (DE)
- European Bioinformatics Institute (GB)
- Corresponding author
- Lichter, Peter
- Korbel, Jan O.
- Pfister, Stefan M.
- ORCID
- Northcott, Paul A.
- Lee, Catherine
- Zichner, Thomas
- Stütz, Adrian M.
- Erkek, Serap
- Kawauchi, Daisuke
- Shih, David J. H.
- Hovestadt, Volker
- Zapatka, Marc
- Sturm, Dominik
- Jones, David T. W.
- Kool, Marcel
- Remke, Marc
- Cavalli, Florence M. G.
- Bader, Gary D.
- VandenBerg, Scott
- Esparza, Lourdes Adriana
- Ryzhova, Marina
- Wang, Wei
- Linke, Linda
- Jäger, Natalie
- Buchhalter, Ivo
- Imbusch, Charles D.
- Raeder, Benjamin
- Schmidt, Sabine
- Wiemann, Stefan
- Brors, Benedikt
- Warnatz, Hans-Jörg
- Yaspo, Marie-Laure
- Darabi, Anna
- Siesjö, Peter
- Sumerauer, David
- Versteeg, Rogier
- Volckmann, Richard
- Schuhmann, Martin U.
- Ebinger, Martin
- Grimes, H. Leighton
- Robinson, Giles W.
- Gajjar, Amar
- Mynarek, Martin
- Rutkowski, Stefan
- Pietsch, Torsten
- Felsberg, Jörg
- Reifenberger, Guido
- Kulozik, Andreas E.
- Witt, Olaf
- Eils, Roland
- Gilbertson, Richard J.
- Korshunov, Andrey
- Taylor, Michael D.
- Lichter, Peter
- Korbel, Jan O.
- Pfister, Stefan M.
- Venue
- Nature
- Published
- 2014-06-22
- Volume
- 511
- Issue
- 7510
- Pages
- 428-434
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC4201514
- OpenAlex
- W2161535481
- Cited by
- 642
- References
- 47
- Citations by year
- 2026: 26 · 2025: 47 · 2024: 51 · 2023: 59 · 2022: 66 · 2021: 75 · 2020: 62 · 2019: 64 · 2018: 51 · 2017: 49 · 2016: 47 · 2015: 36 · 2014: 6
- FWCI
- 23.08
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion, other-oa)
- Semmelweis University Repository (Semmelweis University) (submittedVersion)
- Funders
- California Institute for Regenerative Medicine (LA1-01747)
- CureSearch for Children's Cancer
- Deutsches Krebsforschungszentrum
- European Commission (260791)
- Bundesministerium für Bildung und Forschung (01KU1201A, 01GS0883)
- Deutsche Krebshilfe (109252)
- Hospital for Sick Children
- Stichting Kinderen Kankervrij
- Nationales Centrum für Tumorerkrankungen Heidelberg
- Partenariat Canadien Contre Le Cancer
- National Institutes of Health (UL1TR001425, GM 103504)
- University of California, San Diego
- Heidelberger Zentrum für Personalisierte Onkologie Deutsches Krebsforschungszentrum In Der Helmholtz-Gemeinschaft
- National Cancer Institute (R01CA129541, CA159859, P30CA030199, R01CA159859, P01CA096832)
- National Institute of General Medical Sciences (P41GM103504)
- National Center for Research Resources
- National Center for Advancing Translational Sciences
- Topics
- Health Sciences › Medicine › Oncology › Glioma Diagnosis and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- medulloblastoma, enhancer hijacking, GFI1, GFI1B, oncogene activation, super-enhancers, structural variants, Group 3 medulloblastoma, Group 4 medulloblastoma, pediatric brain tumors, oncogenic drivers
- MeSH terms
- Animals, Child, Chromosomes, Human, Pair 9, DNA-Binding Proteins, Enhancer Elements, Genetic, Humans, Medulloblastoma, Oncogenes, Proto-Oncogene Proteins, Repressor Proteins, Transcription Factors, Mice, Genomic Structural Variation
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