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    GENE:

    SETD1B (SET Domain Containing 1B, Histone Lysine Methyltransferase)

    i
    Other names: SETD1B, SET Domain Containing 1B, Histone Lysine Methyltransferase, KMT2G, KIAA1076, Histone-Lysine N-Methyltransferase SETD1B, SET Domain-Containing Protein 1B, Lysine N-Methyltransferase 2G, Set1B, SET1B, SET Domain Containing 1B, IDDSELD, HSET1B
    2ms
    Mutational Spectrum of T-Cell Large Granular Lymphocytic Leukemia: Insights From the AACR Project GENIE Consortium. (PubMed, Cancer Genomics Proteomics)
    This study provides a comprehensive genomic profile of T-LGLL, identifying recurrent somatic mutations and commonly affected pathways. Notably, frequent alterations were observed in the FAS-FASL signaling pathway, underscoring its potential as a target for therapeutic development.
    Retrospective data • Journal
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    EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • DNMT3A (DNA methyltransferase 1) • KMT2D (Lysine Methyltransferase 2D) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • STAT3 (Signal Transducer And Activator Of Transcription 3) • FASLG (Fas ligand) • IKZF3 (IKAROS Family Zinc Finger 3) • TNFAIP3 (TNF Alpha Induced Protein 3) • EPHB1 (EPH Receptor B1) • SETD1B (SET Domain Containing 1B, Histone Lysine Methyltransferase) • STAT2 (Signal transducer and activator of transcription 2) • ALOX12B (Arachidonate 12-Lipoxygenase) • DDX3X (DEAD-Box Helicase 3 X-Linked)
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    TP53 mutation • STAT3 mutation
    6ms
    Histone Methyltransferase SETD1B Maintains Cancer Stem Cell Niche by Regulating the Crosstalk between CD24 and Surface Adhesion Molecules in Hepatocellular Carcinoma. (PubMed, Int J Biol Sci)
    We identified triptolide (Trip), which serves as a potent suppressor of LCSC stemness by targeting SETD1B for degradation, thereby dramatically attenuating HCC progression in vitro and in vivo. These findings establish the MAZ/SETD1B/CD24 signaling cascade as a critical regulatory mechanism of LCSC stemness and highlight Trip as a potential therapeutic agent for HCC.
    Journal
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    CD24 (CD24 Molecule) • SETD1B (SET Domain Containing 1B, Histone Lysine Methyltransferase)
    10ms
    Regulation of H3K4me3 breadth and MYC expression by the SETD1B catalytic domain in MLL-rearranged leukemia. (PubMed, Leukemia)
    These data indicated that SETD1B was required for H3K4me3 breadth and MYC expression. Thus, a thorough understanding of SETD1B-mediated H3K4me3 breadth is critical for developing markers and therapies for MYC-dependent leukemia subtypes.
    Journal
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    FLT3 (Fms-related tyrosine kinase 3) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • KDM5C (Lysine Demethylase 5C) • SETD1B (SET Domain Containing 1B, Histone Lysine Methyltransferase)
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    NRAS G12
    over1year
    SETD1B mutations confer apoptosis resistance and BCL2 independence in B cell lymphoma. (PubMed, J Exp Med)
    Conversely, inhibitors of the KDM5 histone H3K4 demethylases restore BIM and BIK expression and synergize with Venetoclax in SETD1B-deficient lymphomas. These results establish SETD1B as an epigenetic regulator of cell death and reveal a pharmacological strategy to augment Venetoclax sensitivity in lymphoma.
    Journal • IO biomarker
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    BCL2 (B-cell CLL/lymphoma 2) • KMT2D (Lysine Methyltransferase 2D) • SETD1B (SET Domain Containing 1B, Histone Lysine Methyltransferase)
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    BCL2 expression
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    Venclexta (venetoclax)
    over1year
    Phenotypes of autism spectrum disorder and schizoaffective disorder associated with SETD1B gene but without intellectual disability and seizures. (PubMed, Int J Dev Neurosci)
    However, there are very few reports of SETD1B gene variants as clinical entities. To our knowledge, the SETD1B gene variant has not been previously reported in an individual diagnosed with both a neuropsychiatric disorder and cancer.
    Journal
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    SETD1B (SET Domain Containing 1B, Histone Lysine Methyltransferase)
    over1year
    Comparative Assessment of miR-185-5p and miR-191-5p Expression: From Normal Endometrium to High-Grade Endometrial Cancer. (PubMed, Cells)
    SETD1B, TJP1, and MSI1 were common predicted target genes. In conclusion, hsa-miR-185-5p and hsa-miR-191-5p are underexpressed in EC tissues, correlating with histopathological grades, highlighting their potential as diagnostic biomarkers and their role as tumor suppressors in EC.
    Clinical • Journal
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    SETD1B (SET Domain Containing 1B, Histone Lysine Methyltransferase) • TJP1 (Tight Junction Protein 1) • miR-185 (MicroRNA 185) • MIR191 (MicroRNA 191)
    almost2years
    Nivolumab for mismatch-repair-deficient or hypermutated gynecologic cancers: a phase 2 trial with biomarker analyses. (PubMed, Nat Med)
    PFS24 was associated with presence of MEGF8 or SETD1B somatic mutations. This trial met its co-primary endpoints (ORR and PFS24) early, and our findings highlight several genetic and tumor microenvironment parameters associated with response to PD-1 blockade in dMMR cancers, generating rationale for their validation in larger cohorts.ClinicalTrials.gov identifier: NCT03241745 .
    P2 data • Journal • Mismatch repair • PD(L)-1 Biomarker • IO biomarker
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    PD-L1 (Programmed death ligand 1) • CD8 (cluster of differentiation 8) • SETD1B (SET Domain Containing 1B, Histone Lysine Methyltransferase) • MEGF8 (Multiple EGF Like Domains 8)
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    MSI-H/dMMR • MET mutation
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    Opdivo (nivolumab)
    almost2years
    Molecular characterization of diffuse large B-cell lymphomas associated with hepatitis C virus infection. (PubMed, Br J Haematol)
    Cluster analysis by LymphGen classified 29/54 cases within definite groups, including BN2 in 14 (48.2%), ST2 in seven (24.2%) and MCD and EZB in four each (13.8%). Overall, these results indicate a preferential marginal zone origin for a consistent subgroup of HCV-associated DLBCL cases and suggest potential implications for molecularly targeted therapies.
    Journal • IO biomarker
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    BCL2 (B-cell CLL/lymphoma 2) • BCL6 (B-cell CLL/lymphoma 6) • KMT2D (Lysine Methyltransferase 2D) • PIM1 (Pim-1 Proto-Oncogene) • SETD1B (SET Domain Containing 1B, Histone Lysine Methyltransferase) • TBL1XR1 (TBL1X Receptor 1)
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    NOTCH mutation
    2years
    Glucocorticoid receptor regulates the epithelial-mesenchymal transition process through GR/ZEB1/E-cad and is involved in breast cancer endocrine drug resistance-a bioinformatics analysis. (PubMed, Transl Cancer Res)
    In ER+ breast cancers, GR expression is suppressed, and the EMT process is inhibited by suppressing ZEB1 expression and thus promoting E-cad expression. For the investigation of endocrine medication resistance in breast cancer, it is crucial to identify the mechanisms by how GR participates in the EMT process.
    Journal
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    ER (Estrogen receptor) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • VIM (Vimentin) • NR3C1 (Nuclear Receptor Subfamily 3 Group C Member 1) • SETD1B (SET Domain Containing 1B, Histone Lysine Methyltransferase) • ZEB1 (Zinc Finger E-box Binding Homeobox 1)
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    VIM expression • ZEB1 expression