IndraLab

Statements



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"Individuals with pathogenic BAP1 variants face an elevated risk of diverse tumors, notably BAP1-inactivated melanocytic nevi/tumors, uveal melanoma, cutaneous melanoma, mesothelioma, renal cell carcinoma, and basal cell carcinoma."

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"In human uveal melanoma and renal cell carcinoma, BAP1 loss leads to a dedifferentiated stem-like phenotype associated with aggressive cancer behavior and poor patient outcome (2, 3)."

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"BAP1-TPDS is associated with an increased risk of a specific skin lesion, BAP1-inactivated melanocytic tumour (BIMT) (34), cutaneous melanoma (CM) (34), renal cell carcinoma (RCC) (35), and basal cell carcinoma (BCC) (36)."

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"Germline mutations in BAP1 predispose carriers to the BAP1 tumor predisposition syndrome (BAP1-TPDS), characterized by BAP1-inactivated nevi (BINs), uveal melanoma, cutaneous melanoma, mesothelioma, renal cell carcinoma, and other tumors."