ID

45273

Description

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 MeSH: Neuroblastoma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000124 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.

Link

dbGaP study = phs000124

Keywords

  1. 5/23/22 5/23/22 - Dr. Christian Niklas
  2. 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder

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

Uploaded on

October 12, 2022

DOI

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License

Creative Commons BY 4.0

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dbGaP phs000124 Genome-Wide Association Study of Neuroblastoma

Affection status, consent group, and subject ID of participants with neuroblastoma.

pht002171
Description

pht002171

De-identified subject ID
Description

SUBJID

Data type

text

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C2346787
Patient consent from [General Research Use]
Description

CONSENT

Data type

text

Alias
UMLS CUI [1,1]
C0021430
Case or control [case]
Description

AFFECTION_STATUS

Data type

text

Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [2,1]
C0009932

Similar models

Affection status, consent group, and subject ID of participants with neuroblastoma.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht002171
SUBJID
Item
De-identified subject ID
text
C2348585 (UMLS CUI [1,1])
C2346787 (UMLS CUI [1,2])
Item
Patient consent from [General Research Use]
text
C0021430 (UMLS CUI [1,1])
Code List
Patient consent from [General Research Use]
CL Item
General Research Use (1)
AFFECTION_STATUS
Item
Case or control [case]
text
C1706256 (UMLS CUI [1,1])
C0009932 (UMLS CUI [2,1])

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