BAP1 tumor predisposition syndrome - MedlinePlus
WEBBAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors. Explore symptoms, inheritance, genetics of this condition.
BAP1 - Wikipedia
WEBBRCA1 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]
BAP1 Tumor Predisposition Syndrome - GeneReviews® - NCBI Bookshelf
WEBOct 13, 2016 · BAP1 tumor predisposition syndrome (BAP1-TPDS) is associated with increased risk for a number of cancers and a specific skin lesion, BAP1-inactivated melanocytic tumor (BIMT; formerly called atypical Spitz tumor).
BAP1 Gene - GeneCards | BAP1 Protein | BAP1 Antibody
WEBAug 5, 2024 · 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.
BAP1: Not just a BRCA1-associated protein - PubMed
WEBThis review aims to present a concise and up to date report on the BAP1 gene in cancer, surveying its functional roles, characteristics and clinical manifestations. Furthermore, we highlight the established and emerging therapeutic options for BAP1-mutated cancers.
BAP1 gene - MedlinePlus
WEBThe 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.
Clinical practice guidelines for the diagnosis and surveillance of BAP1 …
WEBAug 22, 2023 · BRCA1-associated protein-1 (BAP1) was identified as a tumour suppressor gene in 2008 [1]. Germline pathogenic variants (GPV, including likely pathogenic variants) in BAP1 have subsequently...
Germline BAP1 mutation and BAP1 inactivated melanocytic …
WEBThe 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].
Biological Mechanisms and Clinical Significance of BAP1 …
WEBBAP1 is a ubiquitin carboxy-terminal hydrolase (UCH), a member of the deubiquitylase (DUB) family of proteins. BAP1 was identified and named in 1998 as a nuclear protein that supposedly bound to the RING finger domain of the BRCA1 protein (1). However, the extent and significance of this interaction has been called into question.
BAP1 as a guardian of genome stability: implications in human …
WEBApr 3, 2023 · A protein called BAP1, which removes tags marking proteins for degradation, is an important guardian of genome stability, and understanding its function may help in developing cancer therapies.