BAP1 tumor predisposition syndrome is caused by mutations in the BAP1 gene. The BAP1 protein acts as a tumor suppressor, which means it helps prevent cells from growing and dividing too rapidly or in an uncontrolled way.

Oct 13, 2016 · BAP1 tumor predisposition syndrome (BAP1-TPDS) is associated with an increased risk for a specific skin lesion, BAP1-inactivated melanocytic tumors (BIMT; formerly called atypical Spitz tumors), and the following cancers, in descending order of frequency: uveal (eye) melanoma (UM), malignant mesothelioma (MMe), cutaneous melanoma (CM), renal ...

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]

Dec 5, 2024 · If you have a mutation in the BAP1 gene, this means you have a condition called BAP1 tumor predisposition syndrome. BAP1 mutations increase your risk for certain types of cancers, including: Melanoma (skin cancer)

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.

Mar 28, 2025 · 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).

In summary, BAP1 is a powerful tumor suppressor gene. Carriers of germline BAP1 mutations often develop multiple cancers during their lifetime. The overall penetrance for cancer is at least 85% and approaches 100% with increasing age (8, 54, 55).

Aug 22, 2023 · BRCA1-associated protein-1 (BAP1) is a recognised tumour suppressor gene. Germline BAP1 pathogenic/likely pathogenic variants are associated with predisposition to multiple tumours, including...

BRCA1-associated protein -1 (BAP1) is a nuclear protein encoded by the BAP1 tumour -suppressor gene located on chromosome 3 (locus 3p21.1). The BAP1 protein acts as a deubiquitinating enzyme — removing ubiquitin, a regulator of the degradation of proteins — and is involved in many key cellular functions including: Cell-cycle regulation [1].

Nov 15, 2021 · BAP1 tumor predisposition syndrome, also known as BAP1-TPDS or COMMON syndrome, is an inherited genetic disorder that may increase the risk of certain types of tumors, both cancerous and noncancerous. The BAP1 gene is involved in protein coding, which is important for transcribing genes in your body from DNA into mRNA.