Study

We performed an integrative analysis to determine genomic aberrations common to sporadic schwannomas.

Study ID Alternative Stable ID Type
EGAS00001001886 Other

Study Description

Schwannomas are common peripheral nerve sheath tumors that can cause significant debilitating morbidities. We performed an integrative analysis to determine genomic aberrations common to sporadic schwannomas. Exome sequence analysis with validation by targeted DNA-sequencing of 125 samples uncovered, in addition to expected NF2 disruption additional recurrent mutations. RNA sequencing identified a recurrent in-frame SH3PXD2A-HTRA1 fusion in 12/125 (10%) cases, and genomic analysis demonstrated the mechanism as resulting from a balanced 19Mb chromosomal inversion on chromosome 10q.

Study Datasets 1 dataset.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001002722
Exome sequencing for 26 patients with matched blood RNA-seq for 41 patients
Illumina HiSeq 2500 93

Who archives the data?

Publications

Citations

Retrieving...
Retrieving...