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Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma

Equal Contribution

J.K., N.L., V.S., E.L.Y., and T.W.-O. contributed equally to this work. J.D.S., J.K., D.M., and D.R.S. contributed equally to this work.

Support

Supported by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics of the National Cancer Institute, Bethesda, MD, a Foundation scheme grant (143234) from the Canadian Institutes for Health Research and a Terry Fox New Frontiers Program Project Grant (1081) (D.M.) and NCTN Operations Center Grant U10 CA180886, Human Specimen Banking Grants U24 CA114766 and 1U24-CA196173, and NCTN Statistics & Data Center Grants U10 CA 180899 and U10 CA098413 of the Children's Oncology Group and Children's Oncology Group Chair's Grant U10 CA098543 from the National Cancer Institute of the National Institutes of Health. Additional research support was provided by a grant from the WWWW (QuadW) Foundation, Inc (www.QuadW.org) to the Children's Oncology Group. COG ARST0531 was also supported by St. Baldrick's Foundation. Support was also provided in part through the Cancer Prevention and Research Institute of Texas grant RP170071 (P.L.). JDS is supported by Hyundai Hope on Wheels, Soccer for Hope Foundation, Li-Fraumeni Syndrome Association, Kneaders Bakery & Café Hope Campaign, 5 For The Fight (Qualtrics), and the Elephant p53 (EP53) Program funded through Huntsman Cancer Institute by the State of Utah. N.L. was supported in part from the University of Toronto MD/PhD program, the McLaughlin Center, a Ruggles Family Innovation Award, and a CIHR MD/PhD Studentship; V.S. was supported in part from the Ontario Graduate Scholarship, MBP Excellence Scholarship, and a Vector Institute Research Grant; T.W.-O. was supported in part by CONACYT. This work used the computational resources of the NIH High Performance Computing Biowulf cluster.

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JCO Precision Oncology
Pages: 75 - 87

History

Published online: January 11, 2021

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Affiliations

Jung Kim, PhD
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD
Nicholas Light, MSc
Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada
Institute of Medical Science, University of Toronto, Toronto, ON, Canada
Vallijah Subasri, BS
Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada
Department of Medical Biophysics, University of Toronto, ON, Canada
Vector Institute of Artificial Intelligence, Toronto, ON, Canada
Erin L. Young, PhD
Department of Pediatrics, University of Utah, Salt Lake City, UT
Talia Wegman-Ostrosky, MD, PhD
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD
Basic Research Subdirection, Instituto Nacional de Cancerología (INCan), Mexico City, Mexico
Donald A. Barkauskas, PhD
QuadW-COG Childhood Sarcoma Biostatistics and Annotation Office, Children's Oncology Group, Monrovia, CA
Department of Preventive Medicine, Keck School of Medicine of the University of Southern California, Los Angeles, CA
David Hall, MS
QuadW-COG Childhood Sarcoma Biostatistics and Annotation Office, Children's Oncology Group, Monrovia, CA
Philip J. Lupo, PhD, MPH
Department of Pediatrics, Hematology-Oncology Section, Baylor College of Medicine, Houston, TX
Rajesh Patidar, MS
Genetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD
Luke D. Maese, DO
Department of Pediatrics, University of Utah, Salt Lake City, UT
Kristine Jones, BS
Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD
Mingyi Wang, PhD
Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD
Cancer Genome Research Laboratory
Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD
Sean V. Tavtigian, PhD
Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT
Dongjing Wu, MS
Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD
Adam Shlien, PhD
Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada
Department of Laboratory Medicine and Pathology, University of Toronto, Toronto, ON, Canada
Frank Telfer, BSc
Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada
Department of Medical Biophysics, University of Toronto, ON, Canada
Anna Goldenberg, PhD
Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada
Vector Institute of Artificial Intelligence, Toronto, ON, Canada
Department of Computer Science, University of Toronto, Toronto, ON, Canada
Stephen X. Skapek, MD
University of Texas Southwestern, Dallas, TX
Jun S. Wei, PhD
Genetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD
Xinyu Wen, MS
Genetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD
Daniel Catchpoole, PhD
The Tumour Bank, Children's Cancer Research Unit, Kids Research Institute, The Children's Hospital at Westmead, Westmead, NSW, Australia
Douglas S. Hawkins, MD
Division of Hematology/Oncology, Seattle Children's Hospital, University of Washington, Fred Hutchinson Cancer Research Center, Seattle, WA
Joshua D. Schiffman, MD
Department of Pediatrics, University of Utah, Salt Lake City, UT
Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT
Javed Khan, MD [email protected]
Genetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD
David Malkin, MD
Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada
Institute of Medical Science, University of Toronto, Toronto, ON, Canada
Department of Medical Biophysics, University of Toronto, ON, Canada
Division of Hematology-Oncology, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, ON, Canada
Douglas R. Stewart, MD
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD
Department of Oncological Sciences, University of Utah School of Medicine, Salt Lake City, UT
Huntsman Cancer Institute at the University of Utah, Salt Lake City, UT

Notes

Javed Khan, MD, Center for Cancer Research, National Cancer Institute, Building 37, Room 2016B, Bethesda, MD 20892; e-mail: [email protected].

Author Contributions

Conception and design: Jung Kim, Nicholas Light, Philip J. Lupo, Sean V. Tavtigian, Adam Shlien, Anna Goldenberg, Douglas S. Hawkins, Joshua D. Schiffman, Javed Khan, David Malkin, Douglas R. Stewart
Financial support: Anna Goldenberg, Joshua D. Schiffman, Javed Khan, David Malkin, Douglas R. Stewart
Provision of study materials or patients: Mingyi Wang, Daniel Catchpoole, Javed Khan
Collection and assembly of data: Nicholas Light, Vallijah Subasri, Erin L. Young, Donald A. Barkauskas, David Hall, Philip J. Lupo, Kristine Jones, Sean V. Tavtigian, Frank Telfer, Jun S. Wei, Xinyu Wen, Daniel Catchpoole, Douglas S. Hawkins, Joshua D. Schiffman, Javed Khan
Data analysis and interpretation: Jung Kim, Nicholas Light, Vallijah Subasri, Erin L. Young, Talia Wegman-Ostrosky, Donald A. Barkauskas, David Hall, Philip J. Lupo, Rajesh Patidar, Luke D. Maese, Mingyi Wang, Dongjing Wu, Frank Telfer, Anna Goldenberg, Stephen X. Skapek, Jun S. Wei, Xinyu Wen, Douglas S. Hawkins, Joshua D. Schiffman, Javed Khan, David Malkin
Manuscript writing: All authors
Final approval of manuscript: All authors
Accountable for all aspects of the work: All authors

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Jung Kim, Nicholas Light, Vallijah Subasri, Erin L. Young, Talia Wegman-Ostrosky, Donald A. Barkauskas, David Hall, Philip J. Lupo, Rajesh Patidar, Luke D. Maese, Kristine Jones, Mingyi Wang, Cancer Genome Research Laboratory, Sean V. Tavtigian, Dongjing Wu, Adam Shlien, Frank Telfer, Anna Goldenberg, Stephen X. Skapek, Jun S. Wei, Xinyu Wen, Daniel Catchpoole, Douglas S. Hawkins, Joshua D. Schiffman, Javed Khan, David Malkin, Douglas R. Stewart
JCO Precision Oncology 2021 :5, 75-87

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