Publications



The NOTCH1/SNAIL1/MEF2C Pathway Regulates Growth and Self-Renewal in Embryonal Rhabdomyosarcoma.
Cell Rep 2017 Jun;19(11):2304-2318
Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, USA; Center of Cancer Research, Massachusetts General Hospital, Charlestown, MA 02129, USA; Harvard Stem Cell Institute, Boston, MA 02114, USA. Electronic address:



Intellectual Outcome in Molecular Subgroups of Medulloblastoma.
J Clin Oncol 2016 Dec 31;34(34):4161-4170. Epub 2016 Oct 31.
Iska Moxon-Emre, Michael D. Taylor, Eric Bouffet, David Malkin, Cynthia Hawkins, Normand Laperriere, Vijay Ramaswamy, Ute Bartels, Nadia Scantlebury, Laura Janzen, Nicole Law, and Donald J. Mabbott, Hospital for Sick Children; Iska Moxon-Emre, Michael D. Taylor, David Malkin, Cynthia Hawkins, Normand Laperriere, Laura Janzen, Nicole Law, and Donald J. Mabbott, University of Toronto; Iska Moxon-Emre and David Malkin, Pediatric Oncology Group of Ontario; Normand Laperriere, Princess Margaret Hospital, Toronto, ON, Canada; Kristina Hardy and Karin S. Walsh, Children's National Health System, Washington, DC; and Cynthia J. Campen, Lucile Packard Children's Hospital, Palo Alto, CA.

Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors.
Cancer Cell 2016 Dec;30(6):891-908
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5G0A4, Canada; Department of Paediatrics, University of Toronto, Toronto, ON M5G0A4, Canada; Division of Hematology/Oncology, Hospital for Sick Children, Toronto, ON M5G1X8, Canada; Arthur and Sonia Labatt Brain Tumour Research Centre, Hospital for Sick Children, Toronto, ON M5G1X8, Canada. Electronic address:

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study.
Lancet Oncol 2016 Sep 5;17(9):1295-305. Epub 2016 Aug 5.
Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Division of Hematology/Oncology, University of Toronto, Toronto, ON, Canada; Genetics & Genomic Biology Program, University of Toronto, Toronto, ON, Canada. Electronic address:

Genome-Wide DNA Methylation Analysis Reveals Epigenetic Dysregulation of MicroRNA-34A in TP53-Associated Cancer Susceptibility.
J Clin Oncol 2016 Aug 22. Epub 2016 Aug 22.
Nardin Samuel, Gavin Wilson, James Tran, Meredith Irwin, Rosanna Weksberg, Thomas J. Hudson, and David Malkin, University of Toronto; Nardin Samuel, Badr Id Said, Youliang Lou, Weili Li, Ana Novokmet, James Tran, Sanaa Choufani, Marc Remke, Vijay Ramaswamy, Florence M.G. Cavalli, Michael D. Taylor, Uri Tabori, Meredith Irwin, Rosanna Weksberg, Jonathan D. Wasserman, Andrew D. Paterson, and David Malkin, The Hospital for Sick Children; Nardin Samuel, Gavin Wilson, Mathieu Lemire, and Thomas J. Hudson, Ontario Institute for Cancer Research; Christine Elser, Princess Margaret Cancer Centre, Toronto, Ontario, Canada; Diana Merino, National Institutes of Health, Bethesda, MD; Kim E. Nichols, St Jude Children's Research Hospital, Memphis, TN; Jonathan L. Finlay, Nationwide Children's Hospital, Columbus, OH; Lynn Meister, Joe DiMaggio Children's Hospital, Hollywood, FL; Jordan R. Hansford, Children's Cancer Centre, Royal Children's Hospital, Melbourne, Victoria, Australia; and Maria Isabel W. Achatz, Hospital AC Camargo, São Paulo, Brazil.

Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency.
J Clin Oncol 2016 Jul 21;34(19):2206-11. Epub 2016 Mar 21.
Eric Bouffet, Brittany B. Campbell, Daniele Merico, Richard de Borja, Carol Durno, Joerg Krueger, Vanja Cabric, Vijay Ramaswamy, Nataliya Zhukova, Peter Dirks, Michael Taylor, David Malkin, Cynthia E. Hawkins, Adam Shlien, and Uri Tabori, The Hospital for Sick Children, Toronto; Melyssa Aronson, and Zane Cohen, Zane Cohen Centre for Digestive Diseases, Mount Sinai, Ontario; Valérie Larouche and Rachel Laframboise, Université Laval, Quebec City; Jeffrey Atkinson, Montreal Children's Hospital; Steffen Albrecht, Roy W.R. Dudley, and Nada Jabado, McGill University, Montreal, Montreal, Quebec; Samina Afzal, IWK Health Centre, Halifax, Nova Scotia; Vanan Magimairajan, Cancer Care Manitoba and University of Manitoba, Winnipeg, Manitoba, Canada; Gary Mason, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA; Roula Farah, Saint George Hospital University Medical Center, Beirut, Lebanon; Michal Yalon and Gideon Rechavi, Sheba Medical Center, Tel Hashomer; Shlomi Constantini, Rina Dvir, and Ronit Elhasid, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Michael F. Walsh, Memorial Sloan Kettering Center, New York, NY; Alyssa Reddy, University of Alabama at Birmingham, Birmingham, AL; Michael Osborn, Women's and Children's Hospital, North Adelaide, South Australia; Michael Sullivan, Jordan Hansford, and Andrew Dodgshun, Royal Children's Hospital, Melbourne, Victoria, Australia; and Nancy Klauber-Demore, Lindsay Peterson, Sunil Patel, and Scott Lindhorst, Medical University of South Carolina, Charleston, SC.


Somatic DICER1 mutations in adult-onset pulmonary blastoma.
Eur Respir J 2016 Jun 28;47(6):1879-82. Epub 2016 Apr 28.
Dept of Human Genetics, McGill University, Montreal, QC, Canada Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, QC, Canada Dept of Medical Genetics, Research Institute of the McGill University Health Centre, Montreal, QC, Canada Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, QC, Canada




Divergent clonal selection dominates medulloblastoma at recurrence.
Nature 2016 Jan 13;529(7586):351-7. Epub 2016 Jan 13.
Developmental &Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada.

Management of Acute Myeloblastic Leukemia in a Child With Biallelic Mismatch Repair Deficiency.
J Pediatr Hematol Oncol 2015 Nov;37(8):e490-3
*Department of Pediatric Hemato-Oncology †The Gilbert Israeli Neurofibromatosis Center (GINFC) ‡Department of Pathology, Diagnostic and Research Cancer Center, Tel Aviv Sourasky Medical Center, Affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel §Division of Hematology/Oncology, Institute of Medical Sciences ¶Department of Laboratory Medicine and Pathobiology, Division of Pathology, The Hospital for Sick Children, The University of Toronto ∥Zane Cohen Centre, Mount Sinai Hospital, Toronto, ON, Canada.

Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome.
Hum Pathol 2015 Jun 5;46(6):917-22. Epub 2015 Mar 5.
Department of Human Genetics, McGill University, Montreal, Quebec, Canada H3A 0G4; Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Quebec, Canada H3T 1E2; Department of Medical Genetics, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada H3H 2R9; Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada H2W 1S6. Electronic address:

A functional variant in miR-605 modifies the age of onset in Li-Fraumeni syndrome.
Cancer Genet 2015 Jan-Feb;208(1-2):47-51. Epub 2014 Dec 31.
Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada. Electronic address:


Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome.
Eur J Cancer 2015 May 13;51(8):977-83. Epub 2015 Apr 13.
Division of Haematology/Oncology, Department of Paediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

Cross-Species Genomics Identifies TAF12, NFYC, and RAD54L as Choroid Plexus Carcinoma Oncogenes.
Cancer Cell 2015 May;27(5):712-27
Department of Developmental Neurobiology, St Jude Children's Research Hospital, 262 Danny Thomas Place, Memphis, TN 38105, USA; Department of Oncology, St Jude Children's Research Hospital, 262 Danny Thomas Place, Memphis, TN 38105, USA. Electronic address:

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.
Nat Genet 2015 Mar 2;47(3):257-62. Epub 2015 Feb 2.
1] Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. [2] The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada. [3] Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada. [4] Department of Pediatrics, University of Toronto, Ontario, Canada.

BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma.
J Clin Oncol 2015 Mar 9;33(9):1015-22. Epub 2015 Feb 9.
Matthew Mistry, Nataliya Zhukova, Daniele Merico, Rahul Krishnatry, Mary Shago, James Stavropoulos, Noa Alon, Peter N. Ray, Vilma Navickiene, Joshua Mangerel, Marc Remke, Vijay Ramaswamy, Ana Guerreiro Stucklin, Martin Li, Edwin J. Young, Cindy Zhang, Pedro Castelo-Branco, Doua Bakry, Suzanne Laughlin, James T. Rutka, Peter B. Dirks, Michael D. Taylor, Mark Greenberg, David Malkin, Annie Huang, Eric Bouffet, Cynthia E. Hawkins, and Uri Tabori; The Hospital for Sick Children; Matthew Mistry, Patricia Rakopoulos, Rahul Krishnatry, Joshua Mangerel, Pawel Buczkowicz, Ana Guerreiro Stucklin, Doua Bakry, Adam Shlien, Mark Greenberg, David Malkin, Annie Huang, Eric Bouffet, Cynthia E. Hawkins, and Uri Tabori, University of Toronto; Jason D. Pole, Pediatric Oncology Group of Ontario, Toronto, Ontario; Jennifer Chan, Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada; Pedro Castelo-Branco, Universidade do Algarve, Faro, Portugal; Keith L. Ligon, Dana-Farber/Boston Children's Cancer Center, Boston, MA.

Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study.
J Clin Oncol 2015 Feb 12;33(6):602-9. Epub 2015 Jan 12.
Jonathan D. Wasserman, Ana Novokmet, Claudia Eichler-Jonsson, and David Malkin, The Hospital for Sick Children; Jonathan D. Wasserman and David Malkin, University of Toronto; Jonathan D. Wasserman and David Malkin, SickKids Research Institute, Toronto, Ontario, Canada; Raul C. Ribeiro and Gerard P. Zambetti, St Jude Children's Research Hospital, Memphis, TN; and Carlos Rodriguez-Galindo, Dana-Farber/Children's Hospital Cancer Center, Harvard Medical School, Boston, MA.

Parent decision-making around the genetic testing of children for germline TP53 mutations.
Cancer 2015 Jan 15;121(2):286-93. Epub 2014 Sep 15.
Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.






Quiescent sox2(+) cells drive hierarchical growth and relapse in sonic hedgehog subgroup medulloblastoma.
Cancer Cell 2014 Jul 19;26(1):33-47. Epub 2014 Jun 19.
Arthur and Sonia Labatt Brain Tumour Research Centre and Division of Neurosurgery, Hospital for Sick Children (HSC), Toronto, ON M5G 1L7, Canada; Program in Developmental and Stem Cell Biology, HSC, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5S 1A8, Canada. Electronic address:

Impact of craniospinal dose, boost volume, and neurologic complications on intellectual outcome in patients with medulloblastoma.
J Clin Oncol 2014 Jun 10;32(17):1760-8. Epub 2014 Feb 10.
Iska Moxon-Emre, Eric Bouffet, Michael D. Taylor, Nadia Scantlebury, Nicole Law, Brenda J. Spiegler, David Malkin, Laura Janzen, and Donald Mabbott, Hospital for Sick Children; Iska Moxon-Emre, Michael D. Taylor, Normand Laperriere, Brenda J. Spiegler, David Malkin, and Laura Janzen, University of Toronto; and Normand Laperriere, Ontario Cancer Institute, Princess Margaret Hospital, Toronto, Ontario, Canada.

Metachronous neuroblastoma in an infant with germline translocation resulting in partial trisomy 2p: a role for ALK?
J Pediatr Hematol Oncol 2014 Apr;36(3):e193-6
*Department of Paediatrics, Division of Haematology/Oncology ‡Division of Molecular Genetics §Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada †Haematology/Oncology Service, KK Women's and Children's Hospital, Singapore, Singapore.

Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers.
Cancer 2014 Apr 30;120(7):1068-75. Epub 2013 Dec 30.
Department of Pediatric Oncology, Dana-Farber Cancer Institute and Division of Pediatric Hematology/ Oncology, Boston Children's Hospital, Boston, Massachusetts; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts; Howard Hughes Medical Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Harvard Stem Cell Institute, Cambridge, Massachusetts; Joslin Diabetes Center, Boston, Massachusetts.


Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.
Eur J Cancer 2014 Mar 15;50(5):987-96. Epub 2014 Jan 15.
Division of Hematology/Oncology, The Hospital for Sick Children, Institute of Medical Sciences, The University of Toronto, Toronto, Ontario, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada; Arthur and Sonia Labbatt Brain Tumor Research Center, Toronto, Ontario, Canada. Electronic address:

Cytogenetic prognostication within medulloblastoma subgroups.
J Clin Oncol 2014 Mar 3;32(9):886-96. Epub 2014 Feb 3.
David J.H. Shih, Marc Remke, Vijay Ramaswamy, Betty Luu, Yuan Yao, Xin Wang, Adrian M. Dubuc, Livia Garzia, John Peacock, Stephen C. Mack, Xiaochong Wu, Adi Rolider, A. Sorana Morrissy, Florence M.G. Cavalli, Claudia C. Faria, Stephen W. Scherer, Uri Tabori, Cynthia E. Hawkins, David Malkin, Eric Bouffet, James T. Rutka, and Michael D. Taylor, Hospital for Sick Children; David J.H. Shih, Marc Remke, Vijay Ramaswamy, Yuan Yao, Xin Wang, Adrian M. Dubuc, John Peacock, Stephen C. Mack, and Michael D. Taylor, University of Toronto, Toronto; Boleslaw Lach, McMaster University, Hamilton, Ontario; Jennifer A. Chan, University of Calgary, Calgary, Alberta; Steffen Albrecht, Adam Fontebasso, and Nada Jabado, McGill University, Montreal, Quebec, Canada; Paul A. Northcott, Andrey Korshunov, Marcel Kool, David T.W. Jones, and Stefan M. Pfister, German Cancer Research Center; Stefan M. Pfister, University Hospital Heidelberg, Heidelberg; Ulrich Schüller, Ludwig-Maximilians-University, Munich; Stefan Rutkowski, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; Karel Zitterbart, Masaryk University School of Medicine; Karel Zitterbart and Leos Kren, University Hospital Brno, Brno, Czech Republic; Toshihiro Kumabe and Teiji Tominaga, Tohoku University Graduate School of Medicine, Sendai, Japan; Young Shin Ra, University of Ulsan, Asan Medical Center; Ji-Yeoun Lee, Byung-Kyu Cho, Seung-Ki Kim, and Kyu-Chang Wang, Seoul National University Children's Hospital, Seoul; Shin Jung, Chonnam National University Research Institute of Medical Sciences, Chonnam National University Hwasun Hospital and Medical School, Chonnam, South Korea; Peter Hauser and Miklós Garami, Semmelweis University, Budapest; László Bognár and Almos Klekner, University of Debrecen, Medical and Health Science Centre, Debrecen, Hungary; Shenandoah Robinson, Boston Children's Hospital; Scott L. Pomeroy, Harvard Medical School, Boston, MA; Ali G. Saad, University of Arkansas for Medical Sciences, Little

TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma.
Acta Neuropathol 2013 Dec 31;126(6):917-29. Epub 2013 Oct 31.
The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada.






Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred.
Pediatr Blood Cancer 2012 Oct 16;59(4):652-6. Epub 2011 Dec 16.
The Familial Gastrointestinal Cancer Registry at Zane Cohen Centre for Digestive Diseases and Department of Surgery, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.


Subgroup-specific structural variation across 1,000 medulloblastoma genomes.
Nature 2012 Aug;488(7409):49-56
Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.



Monoallelic expression determines oncogenic progression and outcome in benign and malignant brain tumors.
Cancer Res 2012 Feb 5;72(3):636-44. Epub 2011 Dec 5.
Division of Haematology/Oncology, The Labatt Brain Tumor Research Centre, The Hospital for Sick Children, Toronto General Hospital, Toronto, Ontario, Canada.




Neural tumor-initiating cells have distinct telomere maintenance and can be safely targeted for telomerase inhibition.
Clin Cancer Res 2011 Jan;17(1):111-21
The Arthur and Sonia Labatt Brain Tumor Research Centre, Cell Biology Program, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping.
Genomics 2010 Oct 16;96(4):199-210. Epub 2010 Jul 16.
Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA.

TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors.
J Clin Oncol 2010 Apr 22;28(12):1995-2001. Epub 2010 Mar 22.
The Hospital for Sick Children, Division of Hematology/Oncology, 555 University Ave, Toronto, Ontario, M5G 1X8, Canada.

Recurrent focal copy-number changes and loss of heterozygosity implicate two noncoding RNAs and one tumor suppressor gene at chromosome 3q13.31 in osteosarcoma.
Cancer Res 2010 Jan;70(1):160-71
Institute of Medical Science, Department of Medical Biophysics, University of Toronto, and Program in Genetics and Genome Biology, Department of Pediatric Laboratory Medicine, Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.


Connecting molecular pathways to hereditary cancer risk syndromes.
Am Soc Clin Oncol Educ Book 2013 :81-90
From the Cancer Biology Program, Fox Chase Cancer Center, Philadelphia, PA; Division of Hematology/Oncology, University of Toronto, and Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada; High Risk Pediatric Cancer Clinic, and Huntsman Cancer Institute, University of Utah, Salt Lake City, UT.

Predisposition to pediatric and hematologic cancers: a moving target.
Am Soc Clin Oncol Educ Book 2014 :e44-55
From the Division of Hematology/Oncology, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada; Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, PA; and Division of Pediatric Hematology/Oncology, Department of Pediatrics and Oncological Sciences, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT.

Management of familial cancer: sequencing, surveillance and society.
Nat Rev Clin Oncol 2014 12 14;11(12):723-31. Epub 2014 Oct 14.
1] Department of Medical Biophysics, University of Toronto, Division of Hematology/Oncology and Genetics &Genome Biology Program, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada. [2] Department of Pediatrics and Institute of Medical Science, University of Toronto, Division of Hematology/Oncology and Genetics &Genome Biology Program, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada.


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