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Copy number variation at 1q21.1 associated with neuroblastoma

Author

Listed:
  • Sharon J. Diskin

    (Children’s Hospital of Philadelphia
    Genomics and Computational Biology, University of Pennsylvania School of Medicine,)

  • Cuiping Hou

    (Children’s Hospital of Philadelphia
    The Center for Applied Genomics, Children’s Hospital of Philadelphia,)

  • Joseph T. Glessner

    (The Center for Applied Genomics, Children’s Hospital of Philadelphia,)

  • Edward F. Attiyeh

    (Children’s Hospital of Philadelphia
    University of Pennsylvania School of Medicine)

  • Marci Laudenslager

    (Children’s Hospital of Philadelphia)

  • Kristopher Bosse

    (Children’s Hospital of Philadelphia)

  • Kristina Cole

    (Children’s Hospital of Philadelphia)

  • Yaël P. Mossé

    (Children’s Hospital of Philadelphia
    University of Pennsylvania School of Medicine)

  • Andrew Wood

    (Children’s Hospital of Philadelphia)

  • Jill E. Lynch

    (Children’s Hospital of Philadelphia)

  • Katlyn Pecor

    (Children’s Hospital of Philadelphia)

  • Maura Diamond

    (Children’s Hospital of Philadelphia)

  • Cynthia Winter

    (Children’s Hospital of Philadelphia)

  • Kai Wang

    (The Center for Applied Genomics, Children’s Hospital of Philadelphia,)

  • Cecilia Kim

    (The Center for Applied Genomics, Children’s Hospital of Philadelphia,)

  • Elizabeth A. Geiger

    (The Children’s Hospital of Philadelphia)

  • Patrick W. McGrady

    (University of Florida and Children’s Oncology Group, Gainesville, Florida, 32611, USA)

  • Alexandra I. F. Blakemore

    (Genomic Medicine, Imperial College London, London, SW7 2AZ, UK)

  • Wendy B. London

    (University of Florida and Children’s Oncology Group, Gainesville, Florida, 32611, USA)

  • Tamim H. Shaikh

    (University of Pennsylvania School of Medicine
    The Children’s Hospital of Philadelphia)

  • Jonathan Bradfield

    (The Center for Applied Genomics, Children’s Hospital of Philadelphia,)

  • Struan F. A. Grant

    (The Center for Applied Genomics, Children’s Hospital of Philadelphia,
    University of Pennsylvania School of Medicine
    The Children’s Hospital of Philadelphia)

  • Hongzhe Li

    (University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104, USA)

  • Marcella Devoto

    (University of Pennsylvania School of Medicine
    The Children’s Hospital of Philadelphia
    University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104, USA
    University of Rome “La Sapienza”, Rome, 00185, Italy)

  • Eric R. Rappaport

    (Children’s Hospital of Philadelphia
    University of Pennsylvania School of Medicine)

  • Hakon Hakonarson

    (The Center for Applied Genomics, Children’s Hospital of Philadelphia,
    University of Pennsylvania School of Medicine
    The Children’s Hospital of Philadelphia)

  • John M. Maris

    (Children’s Hospital of Philadelphia
    University of Pennsylvania School of Medicine
    Abramson Family Cancer Research Institute, University of Pennsylvania School of Medicine,)

Abstract

Copy number variation in neuroblastoma Copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) are two important potential sources of phenotypic variation in humans. Until now, only SNPs have been associated with cancer, but the increasing recognition that germline DNA dosage is a critical component of human diversity raises the possibility that CNVs might also influence susceptibility to this cancer. Diskin et al. now report that a common CNV at chromosome 1q21.1 is associated with the childhood cancer neuroblastoma, and that a transcript within this CNV, the previously unknown neuroblastoma breakpoint family gene NBPF23, is involved in the early stages of tumorigenesis.

Suggested Citation

  • Sharon J. Diskin & Cuiping Hou & Joseph T. Glessner & Edward F. Attiyeh & Marci Laudenslager & Kristopher Bosse & Kristina Cole & Yaël P. Mossé & Andrew Wood & Jill E. Lynch & Katlyn Pecor & Maura Dia, 2009. "Copy number variation at 1q21.1 associated with neuroblastoma," Nature, Nature, vol. 459(7249), pages 987-991, June.
    • Handle: RePEc:nat:nature:v:459:y:2009:i:7249:d:10.1038_nature08035
    DOI: 10.1038/nature08035
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    Cited by:

    1. Deblina Banerjee & Sukriti Bagchi & Zhihui Liu & Hsien-Chao Chou & Man Xu & Ming Sun & Sara Aloisi & Zalman Vaksman & Sharon J. Diskin & Mark Zimmerman & Javed Khan & Berkley Gryder & Carol J. Thiele, 2024. "Lineage specific transcription factor waves reprogram neuroblastoma from self-renewal to differentiation," Nature Communications, Nature, vol. 15(1), pages 1-18, December.
    2. Majid Pahlevan Kakhki & Antonino Giordano & Chiara Starvaggi Cucuzza & Tejaswi Venkata S. Badam & Samudyata Samudyata & Marianne Victoria Lemée & Pernilla Stridh & Asimenia Gkogka & Klementy Shchetyns, 2024. "A genetic-epigenetic interplay at 1q21.1 locus underlies CHD1L-mediated vulnerability to primary progressive multiple sclerosis," Nature Communications, Nature, vol. 15(1), pages 1-17, December.

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