Genetic Basis of Neuroblastoma Tumorigenesis
- Perform a whole genome scan for association of neuroblastoma with single nucleotide
polymorphisms (SNP) and SNP haplotypes.
- Identify true disease-associated SNP alleles using a customized genotyping platform
enriched for haplotype analyses in an independent sample set.
- Validate disease-associated SNP alleles and haplotypes in a final independent sample
- Identify neuroblastoma predisposition genes.
OUTLINE: This is a multicenter study. Participants are stratified according to presence of
high-risk disease (yes vs no) and MYCN amplification (yes vs no).
DNA samples are derived from participants' banked blood or uninvolved bone marrow. A whole
genome scan of DNA samples is employed to identify candidate single nucleotide polymorphisms
(SNPs). The candidate SNPs are investigated, using a gene-centric haplotyping approach, to
identify 10-20 true disease-associated alleles. The disease-associated alleles are again
investigated, using a gene-centric haplotyping approach, to validate 5-10 disease-associated
SNPs. SNPs are then analyzed for heritable predisposition.
Patients do not receive the results of the genetic testing.
A certificate of confidentiality protecting the identity of research participants in this
project has been issued by the Children's Oncology Group.
PROJECTED ACCRUAL: A total of 4,675 patients and 4,675 controls will be accrued for this
Neuroblastoma predisposition genes
John M. Maris, MD
Children's Hospital of Philadelphia
|University of Mississippi Cancer Clinic||Jackson, Mississippi 39216-4505|