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BAP1 activates Melanoma. 8 / 8
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"In addition, a mutation in the BRCA1-associated protein-1 (BAP1) gene is implicated in UM metastasis, and is also known to promote the development of cutaneous melanoma, basal cell carcinoma, malignan[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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"On the other hand, the occasionally described heterozygous deletions of these genes cannot be completely excluded in our series, because NGS procedure and mode of data analysis were not sensitive to moderate CNV (copy number variation), the detection of which was not the aim of this panel.Germline mutations in BAP1 are known to underlie sometimes melanomas, renal cell carcinomas, malignant mesotheliomas, and some other cancers [31]."
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"On the transcriptomic level, uveal melanoma progression and aggressiveness is driven by inactivation of both BAP1, a subunit of the polycomb-repressive deubiquitylase complex (8) and polycomb repressive complex 1 (PRC1) activity, leading to derepression of PRC1 target genes (12)."
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"BAP1 syndrome increases the risk of aggressive RCC, cutaneous melanocytic lesions, basal cell carcinoma, mesothelioma (often in the abdomen), and uveal melanoma [97]."
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"BAP1 syndrome increases the risk of aggressive RCC, cutaneous melanocytic lesions, basal cell carcinoma, mesothelioma (frequently in the abdomen) and uveal melanoma [151,152,153]."
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"BAP1 germline mutations underlie a rare, autosomal dominant tumour predisposition syndrome that is most commonly associated with (in order of decreasing frequency) atypical Spitz tumours, uveal melano[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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"This pathway is exploited by immune checkpoint inhibitors in the treatment of melanoma.12 Coordination of the immune response with therapies targeting oncogenes is a possible treatment strategy.12 89CDKN2A, CDK4, MCR1, BAP1, and TERT promoter germline mutations increase melanoma risk within families.15 96 97 No specific germline mutation is associated with acral melanoma yet; in fact, MCR1 variants were less common in acral lentiginous melanoma patients in a Swedish study."
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"Melanoma predisposition syndromes caused by pathogenic variants in POT1 and BAP1 are more recently described, and both are associated with Spitzoid tumors."
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