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    BIOMARKER:

    BAP1 mutation

    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
    Entrez ID:
    8314
    Related biomarkers:
    Expression
    Mutation
    CNA
    Others
    11ms
    A synchronous occurrence of breast cancer and pleural mesothelioma: a case report. (PubMed, J Med Case Rep)
    This case represents a rare occurrence of synchronous breast cancer and pleural mesothelioma in a 40-year-old female, and is the first case reported in Khyber Pakhtunkhwa, Pakistan. These findings demonstrate the importance of comprehensive diagnostic testing and the potential role of genetic mutations in concurrent cancers. The challenge of simultaneously treating these cancers highlights the need for further research and the importance of multidisciplinary approaches.
    Journal • BRCA Biomarker
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    BRCA2 (Breast cancer 2, early onset) • BAP1 (BRCA1 Associated Protein 1) • WT1 (WT1 Transcription Factor)
    |
    BAP1 mutation
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    paclitaxel
    11ms
    Genomic Profiling of Biliary Tract Cancers: Comprehensive Assessment of Anatomic and Geographic Heterogeneity, Co-Alterations and Outcomes. (PubMed, J Surg Oncol)
    Marked genomic heterogeneity exists among patients with BTCs based on anatomic and geographic location. The overwhelming majority of BTC patients with clinically significant mutations had concurrent genomic co-alterations. The current study highlights the molecular complexity of BTCs with multiple alterations that commonly co-exist and could potentially be targeted to treat BTCs.
    Journal
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    HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • PBRM1 (Polybromo 1) • BAP1 (BRCA1 Associated Protein 1) • SMAD4 (SMAD family member 4)
    |
    KRAS mutation • HER-2 mutation • IDH1 mutation • FGFR2 mutation • FGFR2 fusion • PBRM1 mutation • BAP1 mutation • SMAD4 mutation
    11ms
    A mutant ASXL1-EHMT complex contributes to heterochromatin dysfunction in clonal hematopoiesis and chronic monomyelocytic leukemia. (PubMed, bioRxiv)
    In humans, ASXL1-mutant CH progresses to chronic monomyelocytic leukemia (CMML); CMML patient samples showed striking upregulation of many TE families, suggesting that ASXL1 mutations compromise heterochromatin integrity, hence causing derepression of TEs. Targeting heterochromatin-associated proteins and TEs might counter the progression of CH, CMML and other myeloid malignancies.
    Journal
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    DNMT3A (DNA methyltransferase 1) • ASXL1 (ASXL Transcriptional Regulator 1) • BAP1 (BRCA1 Associated Protein 1) • TET2 (Tet Methylcytosine Dioxygenase 2)
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    ASXL1 mutation • BAP1 mutation
    11ms
    Modeling Malignant Mesothelioma in Genetically Engineered Mice. (PubMed, Curr Protoc)
    © 2025 Wiley Periodicals LLC. Basic Protocol 1: Generation of a genetically engineered mouse model (GEMM) with a germline Bap1 knockout allele Basic Protocol 2: Generation of GEMMs with germline Bap1 knock-in alleles Basic Protocol 3: Asbestos carcinogenicity investigations with GEMMs Basic Protocol 4: Preclinical chemoprevention and chemotherapy studies using a GEMM with asbestos-induced mesothelioma Basic Protocol 5: Generation of a GEMM with conditional knockout of Bap1 Basic Protocol 6: Generation of a conditional knockout model of mesothelioma
    Preclinical • Journal
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    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • BAP1 (BRCA1 Associated Protein 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    BAP1 mutation
    12ms
    Tumor infiltrating T-cells and loss of expression of SWI/SNF genes in varying stages of clear cell renal cell carcinoma. (PubMed, Pathol Res Pract)
    Loss of PBRM1, SMARCA2/BRM, and SMARCA4/BRG1 expression is significantly associated with ccRCC progression, with PBRM1 loss prevalent in advanced stages and SMARCA2/BRM and SMARCA4/BRG1 in earlier stages. ARID1A and SMARCA2/BRM losses correlate with reduced CD8 + counts and stage-specific CD4 + infiltration, highlighting their potential as biomarkers for disease progression and immunotherapeutic response.
    Journal • IO biomarker
    |
    ARID1A (AT-rich interaction domain 1A) • CD8 (cluster of differentiation 8) • PBRM1 (Polybromo 1) • BAP1 (BRCA1 Associated Protein 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • VHL (von Hippel-Lindau tumor suppressor) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • CD4 (CD4 Molecule) • SMARCA2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2)
    |
    ARID1A mutation • PBRM1 mutation • BAP1 mutation • VHL mutation • CD8 expression • CD4 expression
    12ms
    Radiomics for differentiation of somatic BAP1 mutation on CT scans of patients with pleural mesothelioma. (PubMed, J Med Imaging (Bellingham))
    This proof-of-concept work demonstrated the potential of radiomics to differentiate among BAP1+/- in patients with PM. Future work will extend these methods to the assessment of germline BAP1 mutation status through image analysis for improved patient prognostication.
    Journal • BRCA Biomarker
    |
    BAP1 (BRCA1 Associated Protein 1)
    |
    BAP1 mutation
    12ms
    Niraparib in Tumors Metastatic to the CNS (clinicaltrials.gov)
    P2, N=20, Recruiting, Massachusetts General Hospital | Trial completion date: Dec 2026 --> Jun 2027 | Trial primary completion date: Dec 2024 --> Dec 2025
    Trial completion date • Trial primary completion date • Metastases
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • BAP1 (BRCA1 Associated Protein 1) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • XRCC2 (X-Ray Repair Cross Complementing 2) • RAD54B (RAD54 Homolog B) • XRCC3 (X-Ray Repair Cross Complementing 3)
    |
    BRCA1 mutation • HRD • ATM mutation • PALB2 mutation • BAP1 mutation • BRIP1 mutation • HRD + BRCA1 mutation • RAD51C mutation • RAD51D mutation • RAD50 mutation • RAD51B mutation • BARD1 mutation • MRE11A mutation • RAD54L mutation • NBN mutation • HRD signature
    |
    Zejula (niraparib)
    1year
    Phase II Trial of the PARP Inhibitor, Niraparib, in BAP1 and Other DNA Damage Response Pathway-Deficient Neoplasms. (PubMed, JCO Precis Oncol)
    Niraparib failed to meet the prespecified efficacy end point for response. However, clinical benefit was suggested in a proportion of patients who had a confirmed mBAP1, supporting further investigation.
    P2 data • Journal • BRCA Biomarker • PARP Biomarker
    |
    PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • RAD50 (RAD50 Double Strand Break Repair Protein)
    |
    PTEN mutation • ARID1A mutation • BAP1 mutation
    |
    Zejula (niraparib)
    1year
    Single-cell epigenetic profiling reveals an interferon response-high program associated with BAP1 deficiency in kidney cancer. (PubMed, bioRxiv)
    We find that the expression of ERV3-16A3_LTR may itself be a negative prognostic biomarker in ccRCC. Our findings highlight the convergence of malignant epigenetic programs across ccRCC tumors and suggest that BAP1 loss, potentially through ERV3-16A3_LTR dysregulation, is associated with an IFN response-high epigenetic program.
    Journal
    |
    BAP1 (BRCA1 Associated Protein 1)
    |
    BAP1 mutation
    1year
    Understanding the biological processes of kidney carcinogenesis: an integrative multi-omics approach. (PubMed, Mol Syst Biol)
    Our pan-cancer analysis showed these relationships in other tumour types. Our study enhances the understanding of kidney carcinogenesis and its relation to risk factors and progression, with implications for other tumour types.
    Journal
    |
    PBRM1 (Polybromo 1) • BAP1 (BRCA1 Associated Protein 1) • WT1 (WT1 Transcription Factor) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • GSTP1 (Glutathione S-transferase pi 1) • IL20RB (Interleukin 20 Receptor Subunit Beta) • ITK (IL2 Inducible T Cell Kinase)
    |
    PBRM1 mutation • BAP1 mutation • SETD2 mutation • PBRM1 mutation + SETD2 mutation
    1year
    BAP1 inactivation promotes lactate production by leveraging the subcellular localization of LDHA in melanoma. (PubMed, Cell Death Discov)
    By elucidating the interaction between BAP1 and LDHA and the subsequent effects on lactate production in melanoma cells, this work provides insights into the mechanism of BAP1-mediated metabolic regulation. Furthermore, it may provide novel directions for the clinical treatment of BAP1-mutant melanoma.
    Journal • BRCA Biomarker
    |
    LDHA (Lactate dehydrogenase A) • BAP1 (BRCA1 Associated Protein 1)
    |
    BAP1 mutation • BAP1 deletion
    1year
    Expanded detection and impact of BAP1 alterations in cancer. (PubMed, NAR Cancer)
    Leveraging human and mouse liver datasets, BAP1 loss in normal cells resulted in lower BAP1 activity scores and lower scores were associated with a less-differentiated phenotype in embryonic cells. Together, our expanded BAP1 mutant samples revealed a transcriptional signature in cancer cells, supporting BAP1's influences on cellular plasticity and cell identity maintenance.
    Journal • BRCA Biomarker
    |
    BAP1 (BRCA1 Associated Protein 1) • BRCA (Breast cancer early onset)
    |
    BAP1 mutation