My NCBI Sign In
Jump to: Authorized Access | Attribution | Authorized Requests

Study Description

Neuroblastoma is a malignancy of the developing sympathetic nervous system that most commonly affects young children and is often lethal. The etiology of this embryonal cancer is not known.

We have performed a whole genome scan for association of neuroblastoma with SNP genotypes and copy number variation to discover predisposition loci.

We therefore initiated a genome-wide association study (GWAS) in 2007 focused on neuroblastoma patients identified through the Children's Oncology Group (COG; 238 member institutions). Control patients for this study are children cared for at the Children's Hospital of Philadelphia (CHOP) without a diagnosis of cancer. The study was designed to collect up to 5000 neuroblastoma cases and 10,000 controls and is powered to detect common susceptibility variants in Caucasian and African American patients. Whole genome genotyping is being performed on the Illumina HH550 SNP array.

  • Study Type: Case-Control
  • Number of study subjects that have individual level data available through Authorized Access: 1662

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

Cases: Diagnosis of neuroblastoma and informed consent on a COG Biology Protocol for banking of biological samples with at least 1.0 µg of high quality constitutional DNA available.

Controls: No diagnosis of cancer and informed consent for genome-wide genotyping obtained at CHOP.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Genotyping Illumina HumanHap550v1.1 555352 38431
Whole Genome Genotyping Illumina HumanHap550v3.0 561466 51468
Whole Genome Genotyping Illumina Human610_Quadv1_B 601273 1048904
Study History

As of December 6, 2010 a total of 3758 neuroblastoma cases have been genotyped. Of these, a total of 1662 neuroblastoma cases are self-identified as Caucasian and included in the version 2 data release.

Selected publications
Diseases Related to Study (MESH terms)
Links to Other NCBI Resources
Authorized Data Access Requests
Study Attribution
  • Principal Investigator
    • John M. Maris. Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia; Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
  • Co-Investigators
    • Sharon J. Diskin. Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia; Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    • Edward F. Attiyeh. Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia; Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    • Hakon Hakonarson. The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA
    • Marcella Devoto. Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia; Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    • Wendy B. London. University of Florida and Children's Oncology Group, Department of Statistics, Gainesville, FL, USA
    • Hongzhe Li. Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    • Yael P. Mosse. Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia; Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    • Le Nguyen. Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia; Department of Pediatrics, Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
  • Bioinformatics Specialist
    • Jayanti Jagannathan. Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA
  • Research Assistant
    • Maura Diamond. Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA
  • Funding Source
    • 5R01CA124709-03. National Institutes of Health, Bethesda, MD, USA