Dataset Information
Ena-DATASET-LUDJHU-10-10-2014-18:34:43:081-227 - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001001031 | EGA |
REPOSITORIES: EGA
Publications
Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors.
Nature genetics 20141012 11
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 genome-wide or targeted sequencing on 50 cases. Sixteen MPNSTs but none of the neurofibromas tested were found to have somatic mutations in SUZ12, implicating it as having a central role in malignant transformation. ...[more]
