IndraLab

Statements

BAP1 inhibits mutations. 4 / 4
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"All carriers of inherited heterozygous germline BAP1 inactivating mutations (BAP1 +/- )developed one and often severalBAP1 -/- malignancies in their lifetime xref , mostly malignant mesothelioma (MM), uveal melanoma (UVM) xref , xref , etc xref - xref ."
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"Moreover, 2 of the 3 KDM1B mutations in LUSC and LUAD are inactivating, and these are also exclusive of BAP1 inactivating mutations, suggesting that KDM1B mutations might play a role in cancer."
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"BAP1 has inactivating mutations in approximately 47% of primary UMs and 84% of metastatic UMs, consistent with the association of BAP1 mutations with inferior outcomes. xref SF3B1 encodes for splicing factor 3B subunit 1, which is involved in pre-messenger RNA splicing."
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"That being said, it is clear that many metastatic UM cases demonstrate chromosome 3 loss, polysomy 8q, and have BAP1 inactivating mutations."
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