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Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma

26 Nov 2018

Abstract excerpt

BACKGROUND: Germline mutations in BAP1 have been associated with BAP1-Tumor Predisposition Syndrome (BAP1-TPDS), a predisposition to multiple tumors within a family that includes uveal melanoma (UM), cutaneous melanoma, malignant mesothelioma and renal cell carcinoma. Alternatively, somatic mutations in BAP1 in UM have been associated with high risk for metastasis. In this study, we compare the risk of metastasis...

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PMID: 30477459
DOI: 10.1186/s12885-018-5079-x

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