Article
Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome.
World neurosurgery - 1 Jan 2018
Kaszuba Megan C, Pulido Jose S, Folpe Andrew L, Pichurin Pavel N, Goodenberger McKinsey L, Spinner Robert J
Abstract excerpt
BACKGROUND: Germline pathogenic variants in BRCA1-associated protein-1 (BAP1), a nuclear ubiquitin carboxy-terminal hydrolase with evidence suggestive of independent tumor suppressor function, predispose affected families to uveal melanoma, cutaneous melanoma, renal cell carcinoma, malignant mesothelioma, and possibly a range of other tumors and malignancies as part of the BAP1 tumor predisposition syndrome, a...
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