Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma

Hiromichi Suzuki, Sachin A. Kumar, Shimin Shuai, Ander Diaz-Navarro, Ana Gutierrez-Fernandez, Pasqualino Antonellis, Florence M. G. Cavalli, Kyle Juraschka, Hamza Farooq, Ichiyo Shibahara, Maria C. Vladoiu, Jiao Zhang, Namal Abeysundara, David Przelicki, Patryk Skowron, Nicole Gauer, Betty Luu, Craig Daniels, Xiaochong Wu, Antoine Forget, Ali Momin, Jun Wang, Weifan Dong, Seung-Ki Kim, Wieslawa A. Grajkowska, Anne Jouvet, Michelle Fèvre-Montange, Maria Luisa Garrè, Amulya A. Nageswara Rao, Caterina Giannini, Johan M. Kros, Pim J. French, Nada Jabado, Ho-Keung Ng, Wai Sang Poon, Charles G. Eberhart, Ian F. Pollack, James M. Olson, William A. Weiss, Toshihiro Kumabe, Enrique López-Aguilar, Boleslaw Lach, Maura Massimino, Erwin G. Meir, Joshua B. Rubin, Rajeev Vibhakar, Lola B. Chambless, Noriyuki Kijima, Almos Klekner, László Bognár, Jennifer A. Chan, Claudia C. Faria, Jiannis Ragoussis, Stefan M. Pfister, Anna Goldenberg, Robert J. Wechsler-Reya, Swneke D. Bailey, Livia Garzia, A. Sorana Morrissy, Marco A. Marra, Xi Huang, David Malkin, Olivier Ayrault, Vijay Ramaswamy, Xose S. Puente, John A. Calarco, Lincoln Stein and Michael D. Taylor ()
Additional contact information
Hiromichi Suzuki: The Hospital for Sick Children
Sachin A. Kumar: The Hospital for Sick Children
Shimin Shuai: Ontario Institute for Cancer Research
Ander Diaz-Navarro: Instituto Universitario de Oncología, Universidad de Oviedo
Ana Gutierrez-Fernandez: Instituto Universitario de Oncología, Universidad de Oviedo
Pasqualino Antonellis: The Hospital for Sick Children
Florence M. G. Cavalli: The Hospital for Sick Children
Kyle Juraschka: The Hospital for Sick Children
Hamza Farooq: The Hospital for Sick Children
Ichiyo Shibahara: The Hospital for Sick Children
Maria C. Vladoiu: The Hospital for Sick Children
Jiao Zhang: The Hospital for Sick Children
Namal Abeysundara: The Hospital for Sick Children
David Przelicki: The Hospital for Sick Children
Patryk Skowron: The Hospital for Sick Children
Nicole Gauer: The Hospital for Sick Children
Betty Luu: The Hospital for Sick Children
Craig Daniels: The Hospital for Sick Children
Xiaochong Wu: The Hospital for Sick Children
Antoine Forget: CNRS UMR, INSERM, Institut Curie, PSL Research University
Ali Momin: The Hospital for Sick Children
Jun Wang: Tumor Initiation and Maintenance Program, NCI-Designated Cancer Center, Sanford Burnham Prebys Medical Discovery Institute
Weifan Dong: The Hospital for Sick Children
Seung-Ki Kim: Seoul National University Children’s Hospital
Wieslawa A. Grajkowska: The Children’s Memorial Health Institute
Anne Jouvet: Centre de Pathologie EST, Groupement Hospitalier EST, Université de Lyon
Michelle Fèvre-Montange: CNRS UMR5292, INSERM U1028, Centre de Recherche en Neurosciences, Université de Lyon
Maria Luisa Garrè: Neuro-Oncology Unit, Istituto Giannina Gaslini
Amulya A. Nageswara Rao: Mayo Clinic
Caterina Giannini: Mayo Clinic
Johan M. Kros: Erasmus University Medical Center
Pim J. French: Erasmus University Medical Center
Nada Jabado: McGill University
Ho-Keung Ng: The Chinese University of Hong Kong
Wai Sang Poon: The Chinese University of Hong Kong
Charles G. Eberhart: John Hopkins University School of Medicine
Ian F. Pollack: University of Pittsburgh School of Medicine
James M. Olson: Fred Hutchinson Cancer Research Center
William A. Weiss: University of California San Francisco
Toshihiro Kumabe: Kitasato University School of Medicine
Enrique López-Aguilar: Hospital Pediatría Centro Médico Nacional Century XXI
Boleslaw Lach: Division of Anatomical Pathology, McMaster University
Maura Massimino: Fondazione IRCCS Istituto Nazionale Tumori
Erwin G. Meir: Winship Cancer Institute, Emory University
Joshua B. Rubin: Washington University School of Medicine
Rajeev Vibhakar: University of Colorado Anschutz Medical Campus
Lola B. Chambless: Vanderbilt Medical Center
Noriyuki Kijima: Osaka National Hospital
Almos Klekner: University of Debrecen
László Bognár: University of Debrecen
Jennifer A. Chan: Charbonneau Cancer Institute, University of Calgary
Claudia C. Faria: Hospital de Santa Maria
Jiannis Ragoussis: McGill University
Stefan M. Pfister: Hopp Children’s Cancer Center Heidelberg (KiTZ)
Anna Goldenberg: University of Toronto
Robert J. Wechsler-Reya: Tumor Initiation and Maintenance Program, NCI-Designated Cancer Center, Sanford Burnham Prebys Medical Discovery Institute
Swneke D. Bailey: Faculty of Medicine, McGill University
Livia Garzia: Cancer Research Program, Research Institute of the McGill University Health Centre
A. Sorana Morrissy: Charbonneau Cancer Institute, University of Calgary
Marco A. Marra: Canada’s Michael Smith Genome Sciences Centre, BC Cancer Agency
Xi Huang: The Hospital for Sick Children
David Malkin: The Hospital for Sick Children
Olivier Ayrault: CNRS UMR, INSERM, Institut Curie, PSL Research University
Vijay Ramaswamy: The Hospital for Sick Children
Xose S. Puente: Instituto Universitario de Oncología, Universidad de Oviedo
John A. Calarco: University of Toronto
Lincoln Stein: Ontario Institute for Cancer Research
Michael D. Taylor: The Hospital for Sick Children

Nature, 2019, vol. 574, issue 7780, 707-711

Abstract: Abstract In cancer, recurrent somatic single-nucleotide variants—which are rare in most paediatric cancers—are confined largely to protein-coding genes1–3. Here we report highly recurrent hotspot mutations (r.3A>G) of U1 spliceosomal small nuclear RNAs (snRNAs) in about 50% of Sonic hedgehog (SHH) medulloblastomas. These mutations were not present across other subgroups of medulloblastoma, and we identified these hotspot mutations in U1 snRNA in only

Date: 2019
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DOI: 10.1038/s41586-019-1650-0

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