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    BIOMARKER:

    PBRM1 mutation

    i
    Other names: PBRM1, Polybromo 1, BAF180
    Entrez ID:
    55193
    Related biomarkers:
    Expression
    Mutation
    CNA
    Others
    11ms
    The molecular code of kidney cancer: A path of discovery for gene mutation and precision therapy. (PubMed, Mol Aspects Med)
    In addition, unique molecular mechanisms are revealed and individualized therapeutic strategies are explored for specific subtypes such as TFE3, TFEB rearrangement type and SDHB mutant type. The review summarizes the common gene mutations in RCC and their molecular mechanisms, emphasizes their important roles in tumor diagnosis, treatment and prognosis, and looks forward to the application prospects of multi-pathway targeted therapy, metabolic targeted therapy, immunotherapy and nanotechnology in RCC treatment, providing theoretical support and clinical guidance for individualized treatment and new drug development.
    Review • Journal • IO biomarker
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    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • PBRM1 (Polybromo 1) • BAP1 (BRCA1 Associated Protein 1) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • TFE3 (Transcription Factor Binding To IGHM Enhancer 3) • TFEB (Transcription Factor EB 2)
    |
    PIK3CA mutation • PTEN mutation • PBRM1 mutation • SDHB mutation
    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)
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    KRAS mutation • HER-2 mutation • IDH1 mutation • FGFR2 mutation • FGFR2 fusion • PBRM1 mutation • BAP1 mutation • SMAD4 mutation
    11ms
    Clinicopathologic and genomic characteristics of biliary tract carcinomas with TERT promoter mutations among East Asian population. (PubMed, Pathol Res Pract)
    In conclusion, TERT mutations in biliary tract carcinomas had unique clinicopathologic and genetic characteristics. Despite its poor PFS, the concomitant presence of ERBB2 amplification and a high TMB indicated a potential for targeted therapy and immunotherapy in this specific subtype.
    Journal • Tumor mutational burden • IO biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • TERT (Telomerase Reverse Transcriptase) • PBRM1 (Polybromo 1) • SMAD4 (SMAD family member 4)
    |
    TP53 mutation • KRAS mutation • TMB-H • HER-2 amplification • HER-2 mutation • PBRM1 mutation • TERT mutation • TERT promoter mutation
    12ms
    Machine Learning-Based Pathomics Model to Predict the Prognosis in Clear Cell Renal Cell Carcinoma. (PubMed, Technol Cancer Res Treat)
    The machine learning-based pathomics model effectively predicts the OS of ccRCC patients and differentiates between subtypes. The critical roles of the immune-related gene CTLA4 and the PI3K-Akt, HIF-1, and MAPK signaling pathways offer new insights for further research on the molecular mechanisms, diagnosis, and treatment strategies for ccRCC.
    Journal • IO biomarker • Machine learning
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    PBRM1 (Polybromo 1) • HIF1A (Hypoxia inducible factor 1, alpha subunit) • CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4) • TIGIT (T Cell Immunoreceptor With Ig And ITIM Domains 2) • CD80 (CD80 Molecule)
    |
    PBRM1 mutation • HIF1A expression
    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
    CDC20-Mediated Selective Autophagy Degradation of PBRM1 Affects Immunotherapy for Renal Cell Carcinoma. (PubMed, Adv Sci (Weinh))
    As a result, the efficacy of anti-PD-1 immunotherapy is enhanced, leading to improved overall survival rates in syngeneic mouse tumor models. Overall, this finding suggest the clinical application of PB1-p62 and provide a novel approach for enhancing the effectiveness of immunotherapy in RCC patients with wild-type PBRM1.
    Journal • PD(L)-1 Biomarker • IO biomarker
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    PBRM1 (Polybromo 1) • CDC20 (Cell Division Cycle 20)
    |
    PBRM1 mutation
    12ms
    Biomarker analyses from the phase 3 randomized CLEAR trial: Lenvatinib plus pembrolizumab versus sunitinib in advanced renal cell carcinoma. (PubMed, Ann Oncol)
    Improvements in ORR and PFS for L+P versus sunitinib in aRCC were observed consistently across a range of biomarker subgroups defined using RCC driver mutations, PD-L1, gene expression signatures, and molecular subtypes.
    P3 data • Journal • PD(L)-1 Biomarker • IO biomarker • Metastases
    |
    PBRM1 (Polybromo 1) • BAP1 (BRCA1 Associated Protein 1) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • KDM5C (Lysine Demethylase 5C)
    |
    PD-L1 expression • PBRM1 mutation • PD-L1 mutation
    |
    Keytruda (pembrolizumab) • sunitinib • Lenvima (lenvatinib)
    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
    Somatic mutational landscape reveals mutational signatures and significantly mutated genes of cancer immunotherapeutic outcome and sex disparities. (PubMed, Front Immunol)
    Finally, we discovered co-mutated gene pairs and TP53 p.R282W mutations related to treatment outcomes, highlighting their gender-specific differences. This study identified several molecular biomarkers related to cancer immunotherapy outcomes in terms of mutational signatures, molecular subtypes, and mutated genes, and explored their gender-relatedness in order to provide clues and basis for clinical treatment efficacy evaluation and patient selection.
    Journal • Tumor mutational burden • IO biomarker
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • ATM (ATM serine/threonine kinase) • NOTCH1 (Notch 1) • PBRM1 (Polybromo 1) • ATRX (ATRX Chromatin Remodeler) • RBM10 (RNA Binding Motif Protein 10) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • EP300 (E1A binding protein p300) • DOT1L (DOT1 Like Histone Lysine Methyltransferase) • EPHB1 (EPH Receptor B1)
    |
    TP53 mutation • PBRM1 mutation
    1year
    Myoepithelial-Rich Pleomorphic Adenoma With Novel PLAG1 Inversion on Chromosome 8, and LRP1B, PBRM1 and TCF3 Mutations. (PubMed, Cytopathology)
    We present the case of a 64-year-old male with a history of prostate cancer and right submandibular gland excision 16 years ago with an unknown previous diagnosis and recent regrowth of his mass in the surgical bed. The tumour showed a predominant spindle cell morphology, cytokeratin-positivity, variable expression of myoepithelial markers in the cytology and surgical pathology specimens, and novel inversion of the chromosome 8, and LRP1B, PBRM1 and TCF3 mutations.
    Journal
    |
    PBRM1 (Polybromo 1) • LRP1B (LDL Receptor Related Protein 1B) • TCF3 (Transcription Factor 3) • PLAG1 (PLAG1 Zinc Finger)
    |
    PBRM1 mutation
    1year
    Detection of Novel Fusion Events in Gastric Carcinoma Involving the ARHGAP Gene Family (AMP 2024)
    Our study documents novel fusions in MSS gastric carcinoma involving the ARHGAP family. Patients with these tumors usually lack eligibility for targeted therapies, such as those directed against HER2 and involving immune checkpoint inhibition, and could ultimately benefit from new treatment avenues modulating RHOA activity as a result of ARHGAP fusions.
    Tumor mutational burden • IO biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • ARID1A (AT-rich interaction domain 1A) • CLDN18 (Claudin 18) • PBRM1 (Polybromo 1) • KMT2D (Lysine Methyltransferase 2D) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • KDM6A (Lysine Demethylase 6A) • RHOA (Ras homolog family member A) • SOX9 (SRY-Box Transcription Factor 9) • ELF3 (E74 Like ETS Transcription Factor 3) • ARHGAP • CDKN1B (Cyclin dependent kinase inhibitor 1B) • CTNND1 (Catenin Delta 1) • ARHGAP42 (Rho GTPase Activating Protein 42)
    |
    TMB-H • HER-2 amplification • PBRM1 mutation
    |
    MI Tumor Seek™
    1year
    Analysis of circulating tumor DNA in treatment-naive patients with metastatic renal cell carcinoma (EMUC 2024)
    Conclusions To our knowledge, we report the most sensitive analysis in terms of ctDNA detection in mRCC pt compared to published cohorts. Longitudinal ctDNA assessments could help picture disease evolution on therapy and help refine strategies.
    Clinical • IO biomarker • Circulating tumor DNA • Metastases
    |
    TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PBRM1 (Polybromo 1) • BAP1 (BRCA1 Associated Protein 1) • KMT2D (Lysine Methyltransferase 2D) • CREBBP (CREB binding protein) • KDM6A (Lysine Demethylase 6A) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • EP300 (E1A binding protein p300) • STING (stimulator of interferon response cGAMP interactor 1) • KDM5C (Lysine Demethylase 5C)
    |
    TP53 mutation • PBRM1 mutation
    |
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