2016年10月13日 · BAP1 tumor predisposition syndrome (BAP1-TPDS) is associated with increased risk for a specific skin lesion, BAP1-inactivated melanocytic tumor (BIMT; formerly called atypical Spitz tumor), and several cancers including uveal (eye) melanoma (UM), malignant mesothelioma (MMe), renal cell carcinoma (RCC), cutaneous melanoma (CM), basal cell ...

2023年2月8日 · Here, we show that BAP1 is upregulated in colon cancer cells and tissues and that BAP1 depletion reduces colon cancer cell proliferation and tumor growth. BAP1 contributes to colon cancer...

2024年12月24日 · BAP1 (BRCA1 Associated Deubiquitinase 1) is a Protein Coding gene. Diseases associated with BAP1 include Kury-Isidor Syndrome and Tumor Predisposition Syndrome 1. Among its related pathways are Metabolism of proteins and HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA).

2023年8月22日 · Germline BAP1 pathogenic/likely pathogenic variants are associated with predisposition to multiple tumours, including uveal melanoma, malignant pleural and peritoneal mesothelioma, renal...

2024年2月21日 · BRCA1-associated protein 1 (BAP1) has emerged as a major tumor suppressor gene in diverse cancer types, notably in malignant pleural mesothelioma (DPM), and has also been identified...

BAP1 modulates crucial cellular pathways that regulate genomic stability and cell death. BAP1 mutations on the one hand favor malignant transformation and mesothelioma development; on the other hand, they reduce mesothelioma aggressiveness.

BRCA1-associated protein 1 (BAP1) is emerging as an intensively studied cancer-associated gene. Germline mutations in BAP1 lead to a cancer syndrome, and somatic loss is found in several cancer types. BAP1 encodes a deubiquitinase enzyme, which plays key roles in cell cycle regulation, cell death, and differentiation.

BRCA1关联蛋白1 （BAP1）是一种 泛素蛋白羧基末端水解酶，已被确立为肿瘤抑制因子，利用其去泛素化活性来调节许多生物过程，包括DNA损伤修复，细胞周期控制，染色质修饰，程序性细胞死亡，和免疫反应。 BAP1基因的突变通常会导致多种侵袭性癌症。 主要为 葡萄膜黑色素瘤， 恶性间皮瘤， 肾细胞癌 和 皮肤黑色素瘤。 重要的是，BAP1基因的种系突变已被确定为一种新型的肿瘤易感综合征的遗传驱动力，其导致遗传性、早发性癌症的风险增加。 当前治疗BAP1突变 …

BRCA1-Associated Protein 1 (BAP1) is a ubiquitin carboxy-terminal hydrolase that has been established as a tumor suppressor, utilizing its deubiquitinating activity to regulate a number of processes including DNA damage repair, cell cycle control, chromatin modification, programmed cell death, and the immune response.

2022年9月30日 · We report the identification of the methyl-CpG-binding domain proteins 5 and 6 (MBD5 and MBD6) that bind to the C-terminal PHD fingers of the large scaffold subunits ASXL1-3 and stabilize the BAP1 complex at the chromatin.