IndraLab

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BAP1 inhibits Melanoma. 20 / 20
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"Harbour et al. do not demonstrate that BAP1 re-expression is sufficient to suppress the metastatic potential of uveal melanomas; however, if it does as one would predict from this study, substrates critical in migration, anoikis, and colonization should be considered."
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"In melanoma, BAP1 deficiency significantly elevated anaerobic glycolysis levels, leading to more lactate production in tumor cells [11]."
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"We present a unique case of BAP1-inactivated melanoma with anaplastic lymphoma kinase (ALK) fusion arising in a pre-existing BAP1-inactivated nevus in a 47-year-old female patient who presented with a dome-shaped red papule on the superior crus of the right antihelix."
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"BRCA1-Associated Protein-1 Inactivated Melanoma Arising in a Pre-existing Nevus With ALK Fusion and Low Tumor Mutational Burden."
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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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"The BAP1 gene is located on chromosome 3, and loss of BAP1 has been suggested to drive T cell infiltration and help develop an inflammatory microenvironment in uveal melanoma [ 15 ]."
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"Here we report the clinical features, histopathologic findings, and chromosomal copy number data of 19 BAP1-inactivated melanocytomas (BIMs) and compare their features to those of five BAP1-inactivated melanomas."
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"Although not fully diagnostic, a mitotic count of ≥3/mm 2 and ≥6 CNAs in the appropriate context is supportive of a diagnosis of BAP1-inactivated melanoma."
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"BAP1-Inactivated Melanoma Arising From BAP1-Inactivated Melanocytic Tumor in a Patient With BAP1 Germline Mutation: A Case Report and Review of the Literature."
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"The addition of BAP1 loss increased tumor proliferation and melanoma size."
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"BAP1 Loss Promotes Suppressive Tumor Immune Microenvironment via Upregulation of PROS1 in Class 2 Uveal Melanomas."
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"RAF1 fusions have been recently detected in cutaneous melanocytic neoplasms, including conventional melanoma, congenital nevus and BAP-1 inactivated tumors."
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"Cutaneous BAP1-inactivated melanocytic tumors, previously classified as atypical Spitz Nevi, may have a dermal mitotic activity that can resemble melanoma and on the other hand, atypical Spitz tumors are sometimes difficult to differentiate from BAP1-inactivated melanoma."
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"To the best of our knowledge, this is the first case of BAP1-inactivated melanoma with a documented TERT-p hot spot mutation manifesting as the first presentation of BAP1 tumor predisposition syndrome."
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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."
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"BINs are highly penetrant, present in up to 90% of mutation carriers, and typically present as multiple, skin colored or reddish-brown, dome-shaped melanocytic tumors (also or previously called BAP1-inactivlated melanocytic tumors, Wiesner nevi, BAPomas, nevoid melanoma-like melanocytic proliferations, BAP1 mutant Spitz nevi, and melanocytic BAP1-mutated atypical intradermal tumors)."
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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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"Interestingly, loss of BAP1 expression was found to promote T cell infiltration in uveal melanoma [79]."
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"The most strongly associated malignancies include mesothelioma, uveal and cutaneous melanomas, BAP1-inactivated melanocytic tumours and renal cell carcinoma.15 17 Recently published practice guidelines supported an additional association for meningioma, but do not classify it as a core tumour in this syndrome."
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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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