Copy number variation at 1q21.1 associated with neuroblastoma

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 Diamond, Cynthia Winter, Kai Wang, Cecilia Kim, Elizabeth A. Geiger, Patrick W. McGrady, Alexandra I. F. Blakemore, Wendy B. London, Tamim H. Shaikh, Jonathan Bradfield, Struan F. A. Grant, Hongzhe Li, Marcella Devoto, Eric R. Rappaport, Hakon Hakonarson and John M. Maris ()
Additional contact information
Sharon J. Diskin: Children’s Hospital of Philadelphia
Cuiping Hou: 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
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
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
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,
Hongzhe Li: University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104, USA
Marcella Devoto: University of Pennsylvania School of Medicine
Eric R. Rappaport: Children’s Hospital of Philadelphia
Hakon Hakonarson: The Center for Applied Genomics, Children’s Hospital of Philadelphia,
John M. Maris: Children’s Hospital of Philadelphia

Nature, 2009, vol. 459, issue 7249, 987-991

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.

Date: 2009
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DOI: 10.1038/nature08035

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