Genomics

Dataset Information

0

MPNST


ABSTRACT: Data Access Committee EGAC00001000253

PROVIDER: EGAC00001000253 | EGA |

REPOSITORIES: EGA

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Publications


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]

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