Study

Genetic landscape of malignant peripheral nerve sheath tumors

Study ID Alternative Stable ID Type
EGAS00001000974 Other

Study Description

Neurofibromatosis 1 is a hereditary syndrome characterized by the development of numerous benign neurofibromas, a small subset of which progress to malignant peripheral nerve sheath tumors (MPNSTs). To better understand the genetic basis for MPNSTs, we performed whole genome sequencing on four MPNSTs from patients with neurofibromatosis 1 and found that each of them had a somatic, inactivating mutation of SUZ12, a chromatin modifying gene adjacent to the NF1 gene responsible for the benign neurofibromas in these patients. We then performed targeted sequencing on an additional 46 MPNSTs and found that 12 had somatic mutations in SUZ12. Fifteen of the 17 (88%) mutations in SUZ12 were predicted to inactivate protein function, implicating it as a tumor suppressor gene possibly responsible for the progression from neurofibromas to MPNTs.

Study Datasets 2 datasets.

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
EGAD00001001031
These are only the whole exome sequences
Illumina HiSeq 2500 6
EGAD00001001040
This is the complete dataset (exome and genome) for the EGAS00001000974 study.
Illumina HiSeq 2500 16

Who archives the data?

Publications

Citations

Retrieving...
Retrieving...