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    GENE:

    CHD8 (Chromodomain Helicase DNA Binding Protein 8)

    i
    Other names: CHD8, Chromodomain Helicase DNA Binding Protein 8, Helicase With SNF2 Domain 1, Chromodomain-Helicase-DNA-Binding Protein 8, ATP-Dependent Helicase CHD8, KIAA1564, HELSNF1, Axis Duplication Inhibitor, AUTS18, Duplin, DUPLIN, CHD-8
    8d
    The function and mechanism of LINC01583 on Osimertinib resistance in non-small cell lung cancer. (PubMed, Mol Cell Probes)
    In this study, we revealed LINC01583 as a key oncogenic driver that promotes both NSCLC progression and Osi resistance by functioning as a ceRNA for miR-4640-5p, thereby upregulating its target gene CHD8.
    Journal
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    CHD8 (Chromodomain Helicase DNA Binding Protein 8)
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    Tagrisso (osimertinib)
    11d
    Early F-53B Exposure Induces Autism Spectrum Disorder-like Hypomyelination and Oligodendrocytes-Derived Exosomal Protein-Dependent Axonal Energy Imbalance. (PubMed, Environ Sci Technol)
    Downregulation of these proteins in the hippocampus and corpus callosum aligned with behavioral and myelination abnormalities in rat offsprings. Our study establishes ODEX-mediated ATP synthesis disruption as central to F-53B-induced ASD-like pathology, urging reevaluation of perfluorooctanesulfonate alternatives for neurotoxicity.
    Journal
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    CHD8 (Chromodomain Helicase DNA Binding Protein 8)
    2ms
    Case Report: SMARCA4-deficient NSCLC with brain metastasis harboring co-mutations in chromatin remodeling and DNA damage repair pathways. (PubMed, Front Oncol)
    This molecular signature implies potential synergistic effects between chromatin instability, compromised DNA damage repair mechanisms, and augmented immunogenicity. Through comprehensive genomic analysis, we elucidate the biological significance of this mutational landscape and discuss its therapeutic implications, aiming to advance precision diagnosis and guide innovative treatment strategies for SMARCA4-DNSCLC.
    Journal • Tumor mutational burden
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    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • BARD1 (BRCA1 Associated RING Domain 1) • CHD8 (Chromodomain Helicase DNA Binding Protein 8) • SMARCD3 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily D, Member 3)
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    TP53 mutation • TMB-H • BARD1 mutation
    5ms
    Genetic Variants Associated with Breast Cancer Are Detected by Whole-Exome Sequencing in Vietnamese Patients. (PubMed, Diagnostics (Basel))
    This is the first WES study to identify BC-associated genetic variants in Vietnamese patients, providing a comprehensive database of BC susceptibility gene variants. We suggest using WES as a tool to identify genetic variants in BC patients for risk prediction and treatment guidance.
    Journal
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    ER (Estrogen receptor) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • FGFR2 (Fibroblast growth factor receptor 2) • NF1 (Neurofibromin 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • PMS2 (PMS1 protein homolog 2) • MSH3 (MutS Homolog 3) • BARD1 (BRCA1 Associated RING Domain 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • CASP8 (Caspase 8) • WRN (WRN RecQ Like Helicase) • CHD8 (Chromodomain Helicase DNA Binding Protein 8) • RECQL (RecQ Like Helicase) • KLLN (Killin P53 Regulated DNA Replication Inhibitor) • LZTR1 (Leucine Zipper Like Transcription Regulator 1) • RB1CC1 (RB1 Inducible Coiled-Coil 1) • SLX4 (SLX4 Structure-Specific Endonuclease Subunit) • XRCC3 (X-Ray Repair Cross Complementing 3) • ACVR1B (Activin A Receptor Type 1B)
    10ms
    CHD8 interacts with BCL11A to induce oncogenic transcription in triple negative breast cancer. (PubMed, EMBO J)
    Using a battery of biophysical assays, we confirm that the BCL11A-CHD8 interaction is direct and identify chemical fragments that disrupt this interaction and affect downstream targets, decreasing proliferation in 3D colony assays. Our study provides a proof-of-principle approach for investigating tumour-specific protein-protein interactions and identifies lead chemical compounds that could be developed into novel therapeutics for TNBC.
    Journal
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    CHD8 (Chromodomain Helicase DNA Binding Protein 8) • BCL11A (BAF Chromatin Remodeling Complex Subunit BCL11A)
    11ms
    A CHD8-TRRAP axis facilitates MYC and E2F target gene regulation in human neural stem cells. (PubMed, iScience)
    MYC and E2F transcription factors are established oncogenes and regulate cell growth. Our results link CHD8 to TRRAP in facilitating the regulation of MYC and E2F target genes in human neural stem cells.
    Journal
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    MYC (V-myc avian myelocytomatosis viral oncogene homolog) • CHD8 (Chromodomain Helicase DNA Binding Protein 8)
    over1year
    Identification of novel genetic variants associated with oral squamous cell carcinoma (OSCC) in South-West coast of India using targeted exome sequencing. (PubMed, Gene)
    Functional annotation and pathway analysis underscored the involvement of these mutated genes in various cancer-related pathways. Despite limitations such as sample size and the need for further validation, this study contributes to a deeper understanding of OSCC pathogenesis and highlights potential genetic markers for prognosis and targeted interventions, especially in the Indian context.
    Journal
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    TP53 (Tumor protein P53) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • RAD50 (RAD50 Double Strand Break Repair Protein) • CHD8 (Chromodomain Helicase DNA Binding Protein 8) • HNF1A (HNF1 Homeobox A)
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    TP53 mutation • RAD50 mutation
    over1year
    Revealing the clinical impact of MTOR and ARID2 gene mutations on MALT lymphoma of the alimentary canal using targeted sequencing. (PubMed, Diagn Pathol)
    More interestingly, ARID2 mutations were detected in 32% of all the cases, and the mutation rate was higher and statistically significant in Helicobacter pylori (Hp)-negative patients in the gastric group. Therefore, this study found that MTOR and ARID2 gene mutations have pathogenic and prognostic implications.
    Journal
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    TP53 (Tumor protein P53) • DNMT3A (DNA methyltransferase 1) • NF1 (Neurofibromin 1) • mTOR (Mechanistic target of rapamycin kinase) • KMT2A (Lysine Methyltransferase 2A) • TET2 (Tet Methylcytosine Dioxygenase 2) • KMT2D (Lysine Methyltransferase 2D) • EP300 (E1A binding protein p300) • TNFAIP3 (TNF Alpha Induced Protein 3) • ARID2 (AT-Rich Interaction Domain 2) • TNFRSF14 (TNF Receptor Superfamily Member 14) • CHD8 (Chromodomain Helicase DNA Binding Protein 8) • BCORL1 (BCL6 Corepressor Like 1)
    over1year
    Comprehensive Analysis of the Expression, Prognosis, and Immune Infiltrates for Chromodomain-Helicase-DNA-Binding Proteins in Breast Tumor. (PubMed, Asian Pac J Cancer Prev)
    The altered expression of some CHD members was significantly related to clinical cancer outcomes, and CHD1/2/8/9 could serve as potential prognostic biomarkers to improve the survival of BrCa patients. However, to evaluate the studied CHD members in detail are needed further investigations including experimental validation.
    Journal • BRCA Biomarker • Epigenetic controller
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    CHD1 (Chromodomain Helicase DNA Binding Protein 1) • CHD8 (Chromodomain Helicase DNA Binding Protein 8) • CHD2 (Chromodomain Helicase DNA Binding Protein 2) • MIR615 (MicroRNA 615) • MIRLET7B (MicroRNA Let-7b)
    2years
    Assessment of the Expression of Genes Related to Epigenetic and Chromatin Modifications in Diffuse Large B-Cell Lymphoma Patients Resistant to R-CHOP (ASH 2023)
    The mainstay of frontline therapy remains R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone) or R-CHOP-like immunochemotherapy. Differences in gene expression may lead to chemoresistance, and higher expression levels are associated with a worse prognosis. This study sheds light on the importance of chromatin and epigenetic modifications in DLBCL progression, guiding the development of future therapies.
    Clinical
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    SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • KMT2C (Lysine Methyltransferase 2C) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • ARID1B (AT-Rich Interaction Domain 1B) • EP300 (E1A binding protein p300) • NCOR1 (Nuclear Receptor Corepressor 1) • CHD8 (Chromodomain Helicase DNA Binding Protein 8) • H1-4 (H1.4 Linker Histone, Cluster Member)
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    Rituxan (rituximab) • doxorubicin hydrochloride • cyclophosphamide • vincristine • prednisone
    over2years
    Systemic and intrinsic functions of ATRX in glial cell fate and CNS myelination in male mice. (PubMed, Nat Commun)
    Overall, our data indicate that ATRX regulates the onset of myelination systemically via thyroxine, and by promoting OPC differentiation and suppressing astrogliogenesis. These functions of ATRX identified in mice could explain white matter pathogenesis observed in ATR-X syndrome patients.
    Preclinical • Journal
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    ATRX (ATRX Chromatin Remodeler) • CHD8 (Chromodomain Helicase DNA Binding Protein 8)
    almost3years
    Comprehensive profiling of pathogenic germline large genomic rearrangements in a pan-cancer analysis. (PubMed, Mol Oncol)
    In this study, we demonstrated the prevalence of pathogenic germline LGRs beyond breast and ovarian cancer. The profiles of these pathogenic or likely-pathogenic alterations will fuel further investigations and highlight new understanding of LGRs across multiple cancer types.
    Journal • Tumor mutational burden • BRCA Biomarker • Pan tumor
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    TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • FANCA (FA Complementation Group A) • CHD8 (Chromodomain Helicase DNA Binding Protein 8) • KDM5A (Lysine Demethylase 5A) • HNF1A (HNF1 Homeobox A)
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    TMB-H • BRCA2 deletion • BRCA1 deletion