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 ...

BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) is a deubiquitinating enzyme that in humans is encoded by the BAP1 gene. [5] [6] BAP1 encodes an 80.4 kDa nuclear-localizing protein with a ubiquitin carboxy-terminal hydrolase (UCH) domain that gives BAP1 its deubiquitinase activity. [5]

The BAP1 gene provides instructions for making a protein called ubiquitin carboxyl-terminal hydrolase BAP1 (shortened to BAP1). This protein functions as a deubiquitinase, which means it removes a molecule called ubiquitin from certain proteins.

2024年12月24日 · BAP1 is a deubiquitylase thought to be a key regulator of many cancer-associated pathways. Germline alterations in BAP1 have been characterized as predisposing variants to familial melanocytic skin tumors. These alterations also have been linked to the development of mesothelioma, uveal melanoma, cutaneous melanoma and others.

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 t …

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 IHC is a prognostic test in uveal melanoma. Classification is as follows: if < 33% of tumor nuclei are positive, classify as low. If ≥ 33% are positive, classify as high. The tumor proportion score is estimated by manual quantification or digital image analysis. The photomicrograph shows BAP1 in uveal melanoma.

BAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the skin, eyes, kidneys, and the tissue that lines the chest, abdomen, and the outer surface of the internal organs (the mesothelium).

2019年11月24日 · We aim to give a concise review of BAP1 and its role in carcinogenesis, the BAP1 cancer predisposition syndrome and discuss clinical implications including suggested screening guidelines, and potential targeted therapeutic options.

The BAP1-inactivated melanocytic tumour is a rare kind of melanocytic naevus and is one of the earliest and most common clinical manifestations of the germline BAP1 mutation. The tumour is characterised by loss of BAP1 expression on immunoperoxidase staining; this was first described by Thomas Wiesner in 2011 [6].