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Cdkn2a (Arf) loss drives NF1-associated atypical neurofibroma and malignant transformation

14 May 2019

Abstract excerpt

Plexiform neurofibroma (PN) tumors are a hallmark manifestation of neurofibromatosis type 1 (NF1) that arise in the Schwann cell (SC) lineage. NF1 is a common heritable cancer predisposition syndrome caused by germline mutations in the NF1 tumor suppressor, which encodes a GTPase-activating protein called neurofibromin that negatively regulates Ras proteins. Whereas most PN are clinically indolent, a subset...

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PMID: 31091306
DOI: 10.1093/hmg/ddz095

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