Subgroup-specific structural variation across 1,000 medulloblastoma genomes

Paul A. Northcott, David J. H. Shih, John Peacock, Livia Garzia, A. Sorana Morrissy, Thomas Zichner, Adrian M. Stütz, Andrey Korshunov, Jüri Reimand, Steven E. Schumacher, Rameen Beroukhim, David W. Ellison, Christian R. Marshall, Anath C. Lionel, Stephen Mack, Adrian Dubuc, Yuan Yao, Vijay Ramaswamy, Betty Luu, Adi Rolider, Florence M. G. Cavalli, Xin Wang, Marc Remke, Xiaochong Wu, Readman Y. B. Chiu, Andy Chu, Eric Chuah, Richard D. Corbett, Gemma R. Hoad, Shaun D. Jackman, Yisu Li, Allan Lo, Karen L. Mungall, Ka Ming Nip, Jenny Q. Qian, Anthony G. J. Raymond, Nina Thiessen, Richard J. Varhol, Inanc Birol, Richard A. Moore, Andrew J. Mungall, Robert Holt, Daisuke Kawauchi, Martine F. Roussel, Marcel Kool, David T. W. Jones, Hendrick Witt, Africa Fernandez-L, Anna M. Kenney, Robert J. Wechsler-Reya, Peter Dirks, Tzvi Aviv, Wieslawa A. Grajkowska, Marta Perek-Polnik, Christine C. Haberler, Olivier Delattre, Stéphanie S. Reynaud, François F. Doz, Sarah S. Pernet-Fattet, Byung-Kyu Cho, Seung-Ki Kim, Kyu-Chang Wang, Wolfram Scheurlen, Charles G. Eberhart, Michelle Fèvre-Montange, Anne Jouvet, Ian F. Pollack, Xing Fan, Karin M. Muraszko, G. Yancey Gillespie, Concezio Di Rocco, Luca Massimi, Erna M. C. Michiels, Nanne K. Kloosterhof, Pim J. French, Johan M. Kros, James M. Olson, Richard G. Ellenbogen, Karel Zitterbart, Leos Kren, Reid C. Thompson, Michael K. Cooper, Boleslaw Lach, Roger E. McLendon, Darell D. Bigner, Adam Fontebasso, Steffen Albrecht, Nada Jabado, Janet C. Lindsey, Simon Bailey, Nalin Gupta, William A. Weiss, László Bognár, Almos Klekner, Timothy E. Van Meter, Toshihiro Kumabe, Teiji Tominaga, Samer K. Elbabaa, Jeffrey R. Leonard, Joshua B. Rubin, Linda M. Liau, Erwin G. Van Meir, Maryam Fouladi, Hideo Nakamura, Giuseppe Cinalli, Miklós Garami, Peter Hauser, Ali G. Saad, Achille Iolascon, Shin Jung, Carlos G. Carlotti, Rajeev Vibhakar, Young Shin Ra, Shenandoah Robinson, Massimo Zollo, Claudia C. Faria, Jennifer A. Chan, Michael L. Levy, Poul H. B. Sorensen, Matthew Meyerson, Scott L. Pomeroy, Yoon-Jae Cho, Gary D. Bader, Uri Tabori, Cynthia E. Hawkins, Eric Bouffet, Stephen W. Scherer, James T. Rutka, David Malkin, Steven C. Clifford, Steven J. M. Jones, Jan O. Korbel, Stefan M. Pfister, Marco A. Marra () and Michael D. Taylor ()
Additional contact information
Paul A. Northcott: Developmental & Stem Cell Biology Program, The Hospital for Sick Children, 101 College Street, TMDT-11-401M, Toronto, Ontario M5G 1L7, Canada.
David J. H. Shih: Developmental & Stem Cell Biology Program, The Hospital for Sick Children, 101 College Street, TMDT-11-401M, Toronto, Ontario M5G 1L7, Canada.
John Peacock: Developmental & Stem Cell Biology Program, The Hospital for Sick Children, 101 College Street, TMDT-11-401M, Toronto, Ontario M5G 1L7, Canada.
Livia Garzia: Developmental & Stem Cell Biology Program, The Hospital for Sick Children, 101 College Street, TMDT-11-401M, Toronto, Ontario M5G 1L7, Canada.
A. Sorana Morrissy: Developmental & Stem Cell Biology Program, The Hospital for Sick Children, 101 College Street, TMDT-11-401M, Toronto, Ontario M5G 1L7, Canada.
Thomas Zichner: Genome Biology, European Molecular Biology Laboratory, Meyerhofstrasse 1, 69117 Heidelberg, Germany.
Adrian M. Stütz: Genome Biology, European Molecular Biology Laboratory, Meyerhofstrasse 1, 69117 Heidelberg, Germany.
Andrey Korshunov: CCU Neuropathology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 220-221, University of Heidelberg, Im Neuenheimer Feld 224, 69120 Heidelberg, Germany.
Jüri Reimand: The Donnelly Centre, University of Toronto, 160 College Street, Room 602, Toronto, Ontario M5S 3E1, Canada.
Steven E. Schumacher: Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, Massachusetts 02215, USA.
Rameen Beroukhim: Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, Massachusetts 02215, USA.
David W. Ellison: Pathology, St Jude Children’s Research Hospital, 262 Danny Thomas Place, Memphis, Tennessee 38105, USA.
Christian R. Marshall: University of Toronto, 101 College Street, Toronto, Ontario M5G 1L7, Canada.
Anath C. Lionel: The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, 101 College Street, TMDT-14-701, Toronto, Ontario M5G 1L7, Canada.
Stephen Mack: Developmental & Stem Cell Biology Program, The Hospital for Sick Children, 101 College Street, TMDT-11-401M, Toronto, Ontario M5G 1L7, Canada.
Adrian Dubuc: Developmental & Stem Cell Biology Program, The Hospital for Sick Children, 101 College Street, TMDT-11-401M, Toronto, Ontario M5G 1L7, Canada.
Yuan Yao: Developmental & Stem Cell Biology Program, The Hospital for Sick Children, 101 College Street, TMDT-11-401M, Toronto, Ontario M5G 1L7, Canada.
Vijay Ramaswamy: Developmental & Stem Cell Biology Program, The Hospital for Sick Children, 101 College Street, TMDT-11-401M, Toronto, Ontario M5G 1L7, Canada.
Betty Luu: Developmental & Stem Cell Biology Program, The Hospital for Sick Children, 101 College Street, TMDT-11-401M, Toronto, Ontario M5G 1L7, Canada.
Adi Rolider: Developmental & Stem Cell Biology Program, The Hospital for Sick Children, 101 College Street, TMDT-11-401M, Toronto, Ontario M5G 1L7, Canada.
Florence M. G. Cavalli: Developmental & Stem Cell Biology Program, The Hospital for Sick Children, 101 College Street, TMDT-11-401M, Toronto, Ontario M5G 1L7, Canada.
Xin Wang: Developmental & Stem Cell Biology Program, The Hospital for Sick Children, 101 College Street, TMDT-11-401M, Toronto, Ontario M5G 1L7, Canada.
Marc Remke: Developmental & Stem Cell Biology Program, The Hospital for Sick Children, 101 College Street, TMDT-11-401M, Toronto, Ontario M5G 1L7, Canada.
Xiaochong Wu: Developmental & Stem Cell Biology Program, The Hospital for Sick Children, 101 College Street, TMDT-11-401M, Toronto, Ontario M5G 1L7, Canada.
Readman Y. B. Chiu: Michael Smith Genome Sciences Centre, BC Cancer Agency, 100-570 West 7th Avenue, Vancouver, British Columbia V5Z 4S6, Canada.
Andy Chu: Michael Smith Genome Sciences Centre, BC Cancer Agency, 100-570 West 7th Avenue, Vancouver, British Columbia V5Z 4S6, Canada.
Eric Chuah: Michael Smith Genome Sciences Centre, BC Cancer Agency, 100-570 West 7th Avenue, Vancouver, British Columbia V5Z 4S6, Canada.
Richard D. Corbett: Michael Smith Genome Sciences Centre, BC Cancer Agency, 100-570 West 7th Avenue, Vancouver, British Columbia V5Z 4S6, Canada.
Gemma R. Hoad: Michael Smith Genome Sciences Centre, BC Cancer Agency, 100-570 West 7th Avenue, Vancouver, British Columbia V5Z 4S6, Canada.
Shaun D. Jackman: Michael Smith Genome Sciences Centre, BC Cancer Agency, 100-570 West 7th Avenue, Vancouver, British Columbia V5Z 4S6, Canada.
Yisu Li: Michael Smith Genome Sciences Centre, BC Cancer Agency, 100-570 West 7th Avenue, Vancouver, British Columbia V5Z 4S6, Canada.
Allan Lo: Michael Smith Genome Sciences Centre, BC Cancer Agency, 100-570 West 7th Avenue, Vancouver, British Columbia V5Z 4S6, Canada.
Karen L. Mungall: Michael Smith Genome Sciences Centre, BC Cancer Agency, 100-570 West 7th Avenue, Vancouver, British Columbia V5Z 4S6, Canada.
Ka Ming Nip: Michael Smith Genome Sciences Centre, BC Cancer Agency, 100-570 West 7th Avenue, Vancouver, British Columbia V5Z 4S6, Canada.
Jenny Q. Qian: Michael Smith Genome Sciences Centre, BC Cancer Agency, 100-570 West 7th Avenue, Vancouver, British Columbia V5Z 4S6, Canada.
Anthony G. J. Raymond: Michael Smith Genome Sciences Centre, BC Cancer Agency, 100-570 West 7th Avenue, Vancouver, British Columbia V5Z 4S6, Canada.
Nina Thiessen: Michael Smith Genome Sciences Centre, BC Cancer Agency, 100-570 West 7th Avenue, Vancouver, British Columbia V5Z 4S6, Canada.
Richard J. Varhol: Michael Smith Genome Sciences Centre, BC Cancer Agency, 100-570 West 7th Avenue, Vancouver, British Columbia V5Z 4S6, Canada.
Inanc Birol: Michael Smith Genome Sciences Centre, BC Cancer Agency, 100-570 West 7th Avenue, Vancouver, British Columbia V5Z 4S6, Canada.
Richard A. Moore: Michael Smith Genome Sciences Centre, BC Cancer Agency, 100-570 West 7th Avenue, Vancouver, British Columbia V5Z 4S6, Canada.
Andrew J. Mungall: Michael Smith Genome Sciences Centre, BC Cancer Agency, 100-570 West 7th Avenue, Vancouver, British Columbia V5Z 4S6, Canada.
Robert Holt: Michael Smith Genome Sciences Centre, BC Cancer Agency, 675 West 10th Avenue, Vancouver, British Columbia V5Z 1L3, Canada.
Daisuke Kawauchi: Tumour Cell Biology, St Jude Children’s Research Hospital, 262 Danny Thomas Place, Memphis, Tennessee 38105, USA.
Martine F. Roussel: Tumour Cell Biology, St Jude Children’s Research Hospital, 262 Danny Thomas Place, Memphis, Tennessee 38105, USA.
Marcel Kool: German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120 Heidelberg, Germany.
David T. W. Jones: German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120 Heidelberg, Germany.
Hendrick Witt: University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
Africa Fernandez-L: Pediatric Clinical Trials Office, Memorial Sloan-Kettering Cancer Center, 405 Lexington Avenue, New York, New York 10174, USA.
Anna M. Kenney: Neurological Surgery, Vanderbilt Medical Center, T-4224 MCN, Nashville, Tennessee 37232-2380, USA.
Robert J. Wechsler-Reya: Sanford-Burnham Medical Research Institute
Peter Dirks: The Hospital for Sick Children, 555 University Avenue, Hill 1503, Toronto, Ontario M5G 1X8, Canada.
Tzvi Aviv: Developmental & Stem Cell Biology Program, The Hospital for Sick Children, 101 College Street, TMDT-13-601, Toronto, Ontario M5G 1L7, Canada.
Wieslawa A. Grajkowska: The Children’s Memorial Health Institute, Aleja Dzieci Polskich 20, 04-730 Warsaw, Poland.
Marta Perek-Polnik: The Children’s Memorial Health Institute, Aleja Dzieci Polskich 20, 04-730 Warsaw, Poland.
Christine C. Haberler: Institute of Neurology, Medical University of Vienna, AKH 4J, Waehringer Gürtel 18-20, A-1097 Vienna, Austria.
Olivier Delattre: INSERM U 830, Institut Curie, 26 rue d’Ulm, 75238 Paris Cedex 5, France.
Stéphanie S. Reynaud: Unit of Somatic Genetics, Institut Curie, 26 rue d’Ulm, 75238 Paris Cedex 5, France.
François F. Doz: Institut Curie, 26 rue d’Ulm, 75248 Paris Cedex 5, France.
Sarah S. Pernet-Fattet: Pediatric Hematology and Oncology, CHUV University Hospital, 1011 Lausanne, Switzerland.
Byung-Kyu Cho: Seoul National University Children’s Hospital, 101 Daehak-Ro Jongno-Gu, Seoul 110-744, South Korea.
Seung-Ki Kim: Seoul National University Children’s Hospital, 101 Daehak-Ro Jongno-Gu, Seoul 110-744, South Korea.
Kyu-Chang Wang: Seoul National University Children’s Hospital, 101 Daehak-Ro Jongno-Gu, Seoul 110-744, South Korea.
Wolfram Scheurlen: Head of Pediatrics, Cnopfsche Kinderklinik, Theodor-Kutzer-Ufer 1-3, 90419 Nuremberg, Germany.
Charles G. Eberhart: Ophthalmology and Oncology, John Hopkins University School of Medicine, 720 Rutland Avenue, Ross Building 558, Baltimore, Maryland 21205, USA.
Michelle Fèvre-Montange: INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences, Université de Lyon, 69336 Lyon, France.
Anne Jouvet: Centre de Pathologie EST, Groupement Hospitalier EST, Université de Lyon, 69500 Bron, France.
Ian F. Pollack: University of Pittsburgh School of Medicine, 4401 Penn Avenue, Pittsburgh, Pennsylvania 15224, USA.
Xing Fan: University of Michigan Medical School, 109 Zina Pitcher Place, 5018 BSRB, Ann Arbor, Michigan 48109, USA.
Karin M. Muraszko: University of Michigan Medical School, 1500 E. Medical Center Drive, Taubman Center, Room 3552, Ann Arbor, Michigan 48109, USA.
G. Yancey Gillespie: University of Alabama at Birmingham, 1900 University Boulevard, THT 1052, Birmingham, Alabama 35294-0006, USA.
Concezio Di Rocco: Pediatric Neurosurgery, Catholic University Medical School, 00186 Rome, Italy.
Luca Massimi: Pediatric Neurosurgery, Catholic University Medical School, 00186 Rome, Italy.
Erna M. C. Michiels: Erasmus Medical Center, Dr. Molewaterplein 50, 3000 Rotterdam, The Netherlands.
Nanne K. Kloosterhof: Erasmus Medical Center, Dr. Molewaterplein 50, 3000 Rotterdam, The Netherlands.
Pim J. French: Erasmus Medical Center, Dr. Molewaterplein 50, PO Box 2040, 3000 CA Rotterdam, The Netherlands.
Johan M. Kros: Erasmus Medical Center, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands.
James M. Olson: Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, D4-100, Seattle, Washington 98109, USA.
Richard G. Ellenbogen: Neurological Surgery, University of Washington School of Medicine, Harborview Medical Center, 325 Ninth Avenue, Seattle, Washington 98104, USA.
Karel Zitterbart: School of Medicine, Masaryk University, Cernopolni 9, 613 00 Brno, Czech Republic.
Leos Kren: University Hospital Brno, Jihlavska 20, 625 00 Brno, Czech Republic.
Reid C. Thompson: Neurological Surgery, Vanderbilt Medical Center, T-4224 MCN, Nashville, Tennessee 37232-2380, USA.
Michael K. Cooper: Vanderbilt Medical Center, 465 21st Avenue South, MRB III 6160, Nashville, Tennessee 37232-8550, USA.
Boleslaw Lach: McMaster University, Hamilton, Ontario L8S 4L8, Canada.
Roger E. McLendon: Duke University, DUMC 3712, Durham, North Carolina 27710, USA.
Darell D. Bigner: Duke University, DUMC 3712, Durham, North Carolina 27710, USA.
Adam Fontebasso: McGill University, 4060 Ste Catherine West, Montreal, Quebec H3Z 2Z3, Canada.
Steffen Albrecht: McGill University, Montreal, Quebec H3A 2B4, Canada.
Nada Jabado: McGill University, 4060 Ste Catherine West, Montreal, Quebec H3Z 2Z3, Canada.
Janet C. Lindsey: Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne NE1 4LP, United Kingdom.
Simon Bailey: Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne NE1 4LP, United Kingdom.
Nalin Gupta: University of California San Francisco, 505 Parnassus Avenue, Room M779, San Francisco, California 94143-0112, USA.
William A. Weiss: Pediatrics, and Neurosurgery, University of California San Francisco, The Helen Diller Family Cancer Research Building 1450 3rd Street, Room HD-220, MC 0520, San Francisco, California 94158, USA.
László Bognár: University of Debrecen, Medical and Health Science Centre, Móricz Zs. Krt. 22., 4032 Debrecen, Hungary.
Almos Klekner: University of Debrecen, Medical and Health Science Centre, Móricz Zs. Krt. 22., 4032 Debrecen, Hungary.
Timothy E. Van Meter: Pediatrics, Virginia Commonwealthy University, School of Medicine, Box 980646, Pediatric Hematology-Oncology, 1101 East Marshall Street, Richmond, Virginia 23298-0646, USA.
Toshihiro Kumabe: Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan.
Teiji Tominaga: Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan.
Samer K. Elbabaa: St Louis University School of Medicine, 1465 South Grand Boulevard, Suite 3707, St Louis, Missouri 63104, USA.
Jeffrey R. Leonard: Washington University School of Medicine and St Louis Children’s Hospital, Campus Box 8057, 660 South Euclid Avenue, St Louis, Missouri 63110, USA.
Joshua B. Rubin: Anatomy and Neurobiology, Washington University School of Medicine and St Louis Children’s Hospital, Campus Box 8208, 660 South Euclid Avenue, St Louis, Missouri 63110, USA.
Linda M. Liau: David Geffen School of Medicine at UCLA, 10833 Le Conte Avenue, Campus 690118, Los Angeles, California 90095, USA.
Erwin G. Van Meir: Laboratory of Molecular Neuro-Oncology, School of Medicine and Winship Cancer Institute, Emory University, 1365C Clifton Road NE, Atlanta, Georgia 30322, USA.
Maryam Fouladi: University of Cincinnati, Cincinnati Children’s Hospital Medical Center
Hideo Nakamura: Kumamoto University Graduate School of Medical Science, 1-1-1, Honjo, Kumamoto 860-8556, Japan.
Giuseppe Cinalli: Paediatric Neurosurgery, Ospedale Santobono-Pausilipon, 80145 Naples, Italy.
Miklós Garami: Semmelweis University, 1085 Budapest, Hungary.
Peter Hauser: Semmelweis University, 1085 Budapest, Hungary.
Ali G. Saad: Pathology, University of Arkansas for Medical Sciences, 1 Children’s Way, lot 820, Little Rock, Arkansas 72202, USA.
Achille Iolascon: University of Naples, Via Pansini 5, 80145 Naples, Italy.
Shin Jung: Chonnam National University Research Institute of Medical Sciences, Chonnam National University Hwasun Hospital and Medical School, 322 Seoyang-ro, Hwasun-eup, Hwasun-gun, Chonnam 519-763, South Korea.
Carlos G. Carlotti: Faculty of Medicine of Ribeirão Preto, Universidade de São Paulo, Brazil, Avenida Bandeirantes, 3900, Monte Alegre, 14049-900, Rebeirao Preto, São Paulo, Brazil.
Rajeev Vibhakar: Pediatrics, University of Colorado Denver, 12800 19th Avenue, Aurora, Colorado 80045, USA.
Young Shin Ra: University of Ulsan, Asan Medical Center, Seoul, 138-736, South Korea.
Shenandoah Robinson: Case Western Reserve
Massimo Zollo: University of Naples, Via Pansini 5, 80145 Naples, Italy.
Claudia C. Faria: Hospital de Santa Maria, Centro Hospitalar Lisboa Norte EPE, 1169-050, Lisbon, Portugal.
Jennifer A. Chan: University of Calgary, 3330 Hospital Drive NW, HRIC 2A25A, Calgary, Alberta T2N 4N1, Canada.
Michael L. Levy: Rady Children’s Hospital San Diego, 8010 Frost Street, Suite 502, San Diego, California 92123, USA.
Poul H. B. Sorensen: British Columbia Cancer Research Centre, 675 West 10th Avenue, Vancouver, British Columbia V5Z 1L3, Canada.
Matthew Meyerson: Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, Massachusetts 02215, USA.
Scott L. Pomeroy: Harvard Medical School, Children’s Hospital Boston, Fegan 11, 300 Longwood Avenue, Boston, Massachusetts 02115, USA.
Yoon-Jae Cho: Stanford University School of Medicine, 1201 Welch Road, MSLS Building, Rm P213, Stanford, California 94305, USA.
Gary D. Bader: The Donnelly Centre, University of Toronto, 160 College Street, Room 602, Toronto, Ontario M5S 3E1, Canada.
Uri Tabori: The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.
Cynthia E. Hawkins: The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.
Eric Bouffet: The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.
Stephen W. Scherer: University of Toronto, 101 College Street, Toronto, Ontario M5G 1L7, Canada.
James T. Rutka: The Hospital for Sick Children, 555 University Avenue, Hill 1503, Toronto, Ontario M5G 1X8, Canada.
David Malkin: The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.
Steven C. Clifford: Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne NE1 4LP, United Kingdom.
Steven J. M. Jones: Michael Smith Genome Sciences Centre, BC Cancer Agency, 100-570 West 7th Avenue, Vancouver, British Columbia V5Z 4S6, Canada.
Jan O. Korbel: Genome Biology, European Molecular Biology Laboratory, Meyerhofstrasse 1, 69117 Heidelberg, Germany.
Stefan M. Pfister: German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120 Heidelberg, Germany.
Marco A. Marra: Michael Smith Genome Sciences Centre, BC Cancer Agency, 675 West 10th Avenue, Vancouver, British Columbia V5Z 1L3, Canada.
Michael D. Taylor: Developmental & Stem Cell Biology Program, The Hospital for Sick Children, 101 College Street, TMDT-11-401M, Toronto, Ontario M5G 1L7, Canada.

Nature, 2012, vol. 488, issue 7409, 49-56

Abstract: Abstract Medulloblastoma, the most common malignant paediatric brain tumour, is currently treated with nonspecific cytotoxic therapies including surgery, whole-brain radiation, and aggressive chemotherapy. As medulloblastoma exhibits marked intertumoural heterogeneity, with at least four distinct molecular variants, previous attempts to identify targets for therapy have been underpowered because of small samples sizes. Here we report somatic copy number aberrations (SCNAs) in 1,087 unique medulloblastomas. SCNAs are common in medulloblastoma, and are predominantly subgroup-enriched. The most common region of focal copy number gain is a tandem duplication of SNCAIP, a gene associated with Parkinson’s disease, which is exquisitely restricted to Group 4α. Recurrent translocations of PVT1, including PVT1-MYC and PVT1-NDRG1, that arise through chromothripsis are restricted to Group 3. Numerous targetable SCNAs, including recurrent events targeting TGF-β signalling in Group 3, and NF-κB signalling in Group 4, suggest future avenues for rational, targeted therapy.

Date: 2012
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DOI: 10.1038/nature11327

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