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    GENE:

    BAP1 (BRCA1 Associated Protein 1)

    i
    Other names: BAP1, BRCA1 Associated Protein 1, BRCA1 Associated Protein-1 (Ubiquitin Carboxy-Terminal Hydrolase), Ubiquitin Carboxyl-Terminal Hydrolase BAP1, Cerebral Protein 6, Ubiquitin Carboxy-Terminal Hydrolase, BRCA1-Associated Protein 1, Cerebral Protein-13, HUCEP-13, KIAA0272, Hucep-6, UCHL2
    2d
    Single-cell epigenetic profiling reveals a tumor-intrinsic interferon response program in ccRCC tied to poor prognosis and BAP1 loss. (PubMed, Sci Adv)
    We further characterized the BAP1 mutation-associated tumor microenvironment across single-cell, bulk, and multiplex immunofluorescence data, identifying features of both inflammation and immune evasion. Together, our findings nominate tumor-intrinsic interferon signaling as a candidate driver of BAP1-associated aggressiveness in RCC and highlight immune evasion pathways as potential therapeutic targets.
    Journal
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    BAP1 (BRCA1 Associated Protein 1)
    4d
    Hepatocyte-targeted Bap1 reduction in the liver primes an inflammatory transcriptional response. (PubMed, G3 (Bethesda))
    Our data suggest Bap1 is a critical modulator in the liver's immune cell response and its loss leads to an inflammatory environment prior to damage and disrupts the recruitment immune cells. Our quantitative spatial analysis highlights the power of such approaches to characterize the spatial distribution of different cell types in a tissue.
    Journal • BRCA Biomarker
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    BAP1 (BRCA1 Associated Protein 1)
    4d
    Splenic hamartoma in two related patients with BAP1 tumour predisposition syndrome caused by a novel germline BAP1 p.(Gly128Arg) missense variant. (PubMed, Fam Cancer)
    To our knowledge, this is the first report with immunohistochemical data supporting biallelic loss of BAP1 as a contributing step in the development of a splenic hamartoma in a patient with BAP1-TPDS. It supports expanding the tumour spectrum of BAP1-TPDS to splenic hamartoma and possibly other benign splenic tumours.
    Journal
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    BAP1 (BRCA1 Associated Protein 1)
    4d
    Novel EWSR1::TEAD3 Fusion in an Adolescent With a Highly Aggressive Peritoneal Mesothelioma. (PubMed, Genes Chromosomes Cancer)
    Molecular genetic studies identified a novel EWSR1::TEAD3 gene fusion. This is the first reported case of a peritoneal mesothelioma harboring this fusion.
    Journal
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    BAP1 (BRCA1 Associated Protein 1) • EWSR1 (EWS RNA Binding Protein 1) • TEAD3 (TEA Domain Transcription Factor 3)
    4d
    SPORE: A Study of Pembrolizumab and Olaparib for People With Metastatic Pancreatic Ductal Adenocarcinoma and Homologous Recombination Deficiency or Exceptional Treatment Response to Platinum-Based Therapy (clinicaltrials.gov)
    P2, N=63, Active, not recruiting, Memorial Sloan Kettering Cancer Center | Trial completion date: Jan 2026 --> Jan 2027 | Trial primary completion date: Jan 2026 --> Jan 2027
    Trial completion date • Trial primary completion date
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • BAP1 (BRCA1 Associated Protein 1) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2) • FANCC (FA Complementation Group C)
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    MSK-IMPACT
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    Keytruda (pembrolizumab) • Lynparza (olaparib)
    8d
    Uptake of cascade tests in relatives of patients undergoing cancer precision medicine in Japan. (PubMed, Jpn J Clin Oncol)
    The uptake level of cascade test can be acceptable. Hospitals need to maintain contact with the young untested relatives until they have achieved sufficient growth to undertake cascade test.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • BAP1 (BRCA1 Associated Protein 1) • CDK4 (Cyclin-dependent kinase 4) • MSH2 (MutS Homolog 2) • RAD51C (RAD51 paralog C)
    8d
    Factors predictive of progression in lesions categorised as well-differentiated papillary mesothelial tumour of the pleura, tunica vaginalis and peritoneum: a scoping review. (PubMed, Cancer Treat Res Commun)
    This scoping review provides insights into the current understanding of WDPMTs and highlights the paucity of published literature on disease progression, with only 10 relevant articles identified over a two-decade period. WDMPT and papillary mesothelioma in situ (MIS) morphologically are indistinguishable but biologically distinct entities. BAP1 loss on immunohistochemistry (IHC), and multifocality are factors associated with risk of progression to diffuse mesothelioma. Testing for BAP1 and MTAP is mandatory for diagnosis. We suggest that WDPMT-like lesions with BAP1 and/or MTAP loss should be classified as papillary MIS.
    Review • Journal
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    MTAP (Methylthioadenosine Phosphorylase) • BAP1 (BRCA1 Associated Protein 1)
    11d
    BAP-1 in the diagnosis of malignant pleural mesothelioma. (PubMed, Respir Med Res)
    MPM remains difficult to diagnose. Performing BAP1 immunohistochemistry in patients with an undiagnosed pleural effusion or a history of asbestos exposure can aid in identifying those with mesothelioma.
    Journal • BRCA Biomarker
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    BAP1 (BRCA1 Associated Protein 1)
    14d
    A Multi-Step Immune-Competent Genetically Engineered Mouse Model Reveals Phenotypic Plasticity in Uveal Melanoma. (PubMed, Cancer Res)
    The tumor microenvironment featured immunosuppressive macrophage populations and exhausted T cells, closely resembling human UM. This physiologically relevant, immune-competent model provides a platform for investigating UM biology, functionally characterizing candidate driver genes, and developing immune-based therapeutic strategies.
    Preclinical • Journal
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    GNAQ (G Protein Subunit Alpha Q) • BAP1 (BRCA1 Associated Protein 1)
    16d
    LEAH: Cohort Evaluation of Body Fluids Early Detection of Cancer in High-risk Individuals (clinicaltrials.gov)
    P=N/A, N=5909, Not yet recruiting, Gustave Roussy, Cancer Campus, Grand Paris | Initiation date: Jun 2025 --> Feb 2026
    Trial initiation date
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • POLE (DNA Polymerase Epsilon) • RUNX1 (RUNX Family Transcription Factor 1) • BAP1 (BRCA1 Associated Protein 1) • ETV6 (ETS Variant Transcription Factor 6) • MLH1 (MutL homolog 1) • CDK4 (Cyclin-dependent kinase 4) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • CDH1 (Cadherin 1) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • POLD1 (DNA Polymerase Delta 1) • RAD51C (RAD51 paralog C) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • RAD51D (RAD51 paralog D) • DDX41 (DEAD-Box Helicase 41) • GATA2 (GATA Binding Protein 2) • DICER1 (Dicer 1 Ribonuclease III) • FLCN (Folliculin) • PRSS1 (Serine Protease 1) • SDHD (Succinate Dehydrogenase Complex Subunit D) • TXNIP (Thioredoxin Interacting Protein) • ANKRD26 (Ankyrin Repeat Domain Containing 26) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) • HOXB13 (Homeobox B13)
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    TP53 mutation • PTEN deletion