Study

Association of Age at Diagnosis and Genetic Mutations in Patients with Neuroblastoma

Study ID Alternative Stable ID Type
EGAS00001000213 Whole Genome Sequencing

Study Description

Neuroblastoma is diagnosed over a wide age range from birth through young adulthood, and older age at diagnosis is associated with a decline in survivability. We performed whole genome sequencing of DNA from diagnostic tumors and their matched germlines from 40 patients with metastatic neuroblastoma obtained between 1987 and 2009. To identify genetic lesions that are associated with age at diagnosis in patients with metastatic neuroblastoma. Age groups at diagnosis included infants (0-18 months), children (18 months-12 years), and adolescents and young adults (>12 years). To confirm the findings from this discovery cohort, validation testing using tumors from an additional 64 patients obtained between 1985 and 2009 was also performed. Formalin-fixed paraffin-embedded tumor tissue was used for immunohistochemistry and fluorescent in situ hybridization. Telomere lengths were analyzed using the whole genome sequencing data, quantitative polymerase chain reaction and fluorescent in situ hybridization

Study Datasets 5 datasets.

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Dataset ID Description Technology Samples
EGAD00001000135
Neuroblastoma whole genome sequencing
Illumina HiSeq 2000 80
EGAD00001001432
PCGP Germline Study Whole Genome Sequencing
Illumina HiSeq 2000 1337
EGAD00001001433
PCGP Germline Study Whole Exome Sequencing
Illumina HiSeq 2000 906
EGAD00001006196
Additional Neuroblastoma whole genome sequencing data
Illumina HiSeq 2000 3
EGAD00001006344
Additional Neuroblastoma whole genome sequencing data
30

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