BAP1 Tumor Predisposition Syndrome - GeneReviews® - NCBI Bookshelf
Oct 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 - Wikipedia
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]
BAP1 tumor predisposition syndrome - MedlinePlus
BAP1 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.
Clinical practice guidelines for the diagnosis and surveillance of BAP1 …
Aug 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...
BAP1 gene - MedlinePlus
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.
BAP1 Gene - GeneCards | BAP1 Protein | BAP1 Antibody
Oct 1, 2024 · 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).
BAP1: Not just a BRCA1-associated protein - PubMed
This 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.
Roles and mechanisms of BAP1 deubiquitinase in tumor suppression
Jan 18, 2021 · BAP1 is the most frequently mutated deubiquitinase in human cancers and is a major tumor suppressor. BAP1 germline mutations provide a model for gene–environment interactions in carcinogenesis.
Germline BAP1 mutation and BAP1 inactivated melanocytic …
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].
BAP1 as a guardian of genome stability: implications in human …
Apr 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.