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The Genomics of Pilocytic Astrocytoma Formation in Neurofibromatosis Type 1
dbGaP
Data Resource:  dbGaP
Point of Contact:  
David Gutmann, MD, PhD,  
Project

About This Dataset
Neurofibromatosis type 1 (NF1) inherited cancer predisposition syndrome is one of the most common autosomal dominant tumor predisposition syndromes in which affected individuals develop brain tumors. These low-grade glial neoplasms (pilocytic astrocytomas) typically arise in children younger than 7 years of age and are hypothesized to result from a combination of germline and acquired somatic NF1 tumor suppressor gene mutations. In this study, whole genome sequence analysis was performed on three NF1-associated pilocytic astrocytoma tumors (NF1-PA) and matched normal blood samples to establish the genomic landscape of NF1-PA. These data support the existence of multiple distinct mechanisms (mutation, LOH, and methylation) underlying somatic NF1 inactivation in NF1-PA tumors.
Core Data Elements
Number of Cases
3
Case Sex
Female (2); Male (1)
Case Age At Diagnosis
10 to 14 years (1); 15 to 19 years (1); 20 to 24 years (1)
Case Race
Not Reported (3)
Case Ethnicity
Not Reported (3)
Case Disease Diagnosis
Neurofibromatosis Type 1 (NF1) (3)
Number of Samples
4
Sample Anatomic Site
Hypothalamus (1); Lower Medulla (1); Orbit (1); Temporal Lobe (1)
Additional Data Elements
DBGAP STUDY IDENTIFIER
Grant Information
R01CA180006
Cancer Susceptibility Variant Discovery in High Throughput Sequencing Data
Published In
https://doi.org/10.1101/gr.142604.112
Charts
Female (2); Male (1)
2Female