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    GENE:

    BARD1 (BRCA1 Associated RING Domain 1)

    i
    Other names: BRCA1 Associated RING Domain 1, RING-Type E3 Ubiquitin Transferase BARD1, BRCA1-Associated RING Domain Protein 1, BRCA1-Associated RING Domain Gene 1
    3d
    NIRADO: Basket Trial Exploring the Efficacy and Safety of the Combination of Niraparib and Dostarlimab (clinicaltrials.gov)
    P2, N=51, Terminated, Gustave Roussy, Cancer Campus, Grand Paris | Trial completion date: Dec 2027 --> Feb 2025 | Suspended --> Terminated; Abandon of the partner, GSK
    Trial completion date • Trial termination • Pan tumor • Platinum sensitive
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    HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ARID1A (AT-rich interaction domain 1A) • PBRM1 (Polybromo 1) • CDK12 (Cyclin dependent kinase 12) • 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) • RAD51D (RAD51 paralog D) • ARID2 (AT-Rich Interaction Domain 2) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • DRD (DNA Repair Deficiency)
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    HER-2 positive • HER-2 amplification • DDR • CDK12 mutation • CHEK2 mutation • BRIP1 mutation • RAD51C mutation • RAD51D mutation • BARD1 mutation
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    Zejula (niraparib) • Jemperli (dostarlimab-gxly)
    3d
    ARIANES: Efficacy and Safety of the Combination of Rucaparib (PARP Inhibitor) and Atezolizumab (Anti-PD-L1 Antibody) in Patients With DNA Repair-deficient or Platinum-sensitive Solid Tumors (clinicaltrials.gov)
    P2, N=130, Terminated, Gustave Roussy, Cancer Campus, Grand Paris | Suspended --> Terminated; Bankruptcy of partner: Clovis
    Trial termination • Pan tumor • Platinum sensitive
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CDK12 (Cyclin dependent kinase 12) • 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) • IL2 (Interleukin 2) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • DRD (DNA Repair Deficiency)
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    DDR • CDK12 mutation • CHEK2 mutation • BRIP1 mutation • RAD51C mutation • RAD51D mutation • BARD1 mutation
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    Tecentriq (atezolizumab) • Rubraca (rucaparib)
    6d
    Hpv-driven rewiring of the tumor immune microenvironment through single-cell profiling informs prognosis and therapy in HNSCC. (PubMed, Oral Oncol)
    Our study leverages single-cell profiling to elucidate HPV-driven immunological remodeling in HNSCC. The derived prognostic signature effectively captures the essence of the TIME, serving as a reliable biomarker for predicting patient survival and informing precision therapy, potentially bridging the gap between HPV status and clinical decision-making.
    Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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    TMB (Tumor Mutational Burden) • CD8 (cluster of differentiation 8) • PD-1 (Programmed cell death 1) • CD4 (CD4 Molecule) • BARD1 (BRCA1 Associated RING Domain 1)
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    dasatinib
    6d
    Transvaginal Ultrasound and Photoacoustic Imaging of Ovary (clinicaltrials.gov)
    P=N/A, N=310, Recruiting, Washington University School of Medicine | Trial completion date: Jan 2028 --> Jan 2027 | Trial primary completion date: Jan 2028 --> 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) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • EPCAM (Epithelial cell adhesion molecule) • BARD1 (BRCA1 Associated RING Domain 1)
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    BARD1 mutation
    8d
    Characterization of a Genetic Variant in BARD1 in Subjects Undergoing Germline Testing for Hereditary Tumors. (PubMed, Biomedicines)
    These results underscore the importance of accurate variant annotation and population-specific frequency data for clinical interpretation of NGS findings. Although BARD1 remains a low-frequency contributor to HBOC compared to BRCA1/2, its inclusion in multigene panels is supported by the potential relevance of such complex variants.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BARD1 (BRCA1 Associated RING Domain 1)
    9d
    Germline Mutation Analysis and Real-World Impact in a Selected Cohort of Patients with Non-Small Cell Lung Cancer: INHERITY LC Study. (PubMed, Clin Lung Cancer)
    The INHERITY LC study identified a PGV prevalence of 10.3% in a selected NSCLC cohort, with most variants affecting genes involved in the DNA damage repair (DDR) pathway. The application of specific selection criteria may enhance the yield of germline testing in this setting. Larger confirmatory studies are warranted to demonstrate that germline testing and genetic counseling for NSCLC may have implications for prevention, early detection, and treatment.
    Clinical • Journal • Real-world evidence • BRCA Biomarker
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    TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • CHEK2 (Checkpoint kinase 2) • BARD1 (BRCA1 Associated RING Domain 1) • MRE11A (MRE11 homolog, double strand break repair nuclease) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • XRCC2 (X-Ray Repair Cross Complementing 2)
    11d
    Saturation genome editing of BARD1 resolves VUS and provides insight into BRCA1-BARD1 tumor suppression. (PubMed, medRxiv)
    The single nucleotide resolution allowed discrimination of variant effects on RNA abundance from those affecting protein function and provided further evidence linking BARD1's function in homology directed repair to tumor suppression. This comprehensive variant effect dataset informs inherited cancer risk and treatment decisions.
    Journal
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    BRCA1 (Breast cancer 1, early onset) • BARD1 (BRCA1 Associated RING Domain 1)
    14d
    Genomic characterization of host gene alterations in Theileria annulata-transformed leukocytes. (PubMed, Commun Biol)
    Functional studies revealed that inhibition of the mutated oncogene ROS1 using crizotinib induces death in infected leukocytes, confirming its role in transformation...Our findings provide new insights into how T. annulata reprograms host cells through genomic instability and mutations, identifying ROS1 and TP53 as critical targets for therapeutic intervention. This work advances understanding of parasite-induced oncogenic transformation and offers pathways for future research.
    Journal
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    TP53 (Tumor protein P53) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • BAP1 (BRCA1 Associated Protein 1) • KMT2C (Lysine Methyltransferase 2C) • NOTCH2 (Notch 2) • FLT4 (Fms-related tyrosine kinase 4) • BARD1 (BRCA1 Associated RING Domain 1) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1) • GRIN2A (Glutamate Ionotropic Receptor NMDA Type Subunit 2A) • DAXX (Death-domain associated protein) • FCGR2B (Fc Fragment Of IgG Receptor IIb) • APOBEC3H (Apolipoprotein B MRNA Editing Enzyme Catalytic Subunit 3H)
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    TP53 mutation
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    Xalkori (crizotinib)
    20d
    Key genes and associated mechanisms of PCOS and EC comorbidity: A bioinformatics analysis. (PubMed, Medicine (Baltimore))
    Collectively, these key genes play a significant role in the occurrence and progression of comorbidities through the pathways mentioned above. The dysregulation of key genes (SYTL1, PARVG, ID4, IL1RN, S100A9) in the context of PCOS-EC comorbidities, along with their associated enrichment pathways, including the TGF-β signaling-pathway and immune microenvironment, plays a significant role in the occurrence and progression of EC.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • ATM (ATM serine/threonine kinase) • S100A9 (S100 Calcium Binding Protein A9) • BARD1 (BRCA1 Associated RING Domain 1) • TGFB1 (Transforming Growth Factor Beta 1) • IL1RN (Interleukin 1 receptor antagonist)
    22d
    An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results (clinicaltrials.gov)
    P=N/A, N=1000, Recruiting, Memorial Sloan Kettering Cancer Center | N=2060 --> 1000
    Enrollment change
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • POLD1 (DNA Polymerase Delta 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • EPCAM (Epithelial cell adhesion molecule) • BARD1 (BRCA1 Associated RING Domain 1) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A)
    1m
    Dysregulated BARD1 Contributes to Paclitaxel Resistance in Ovarian Cancer via Up-regulating CYP2C8. (PubMed, Folia Biol (Praha))
    Results from gain and loss of functional experiments indicated that BARD1 functions as a tumour suppressor during paclitaxel treatment, and BARD1 down-regulation increased the IC50 of paclitaxel from 2.46 nM to 5.33 nM in SK-OV-3 cells and from 3.11 nM to 7.51 nM in CaoV-3 cells. We are the first to demonstrate that the down-regulation of BARD1 contributes to paclitaxel resistance via up-regulating CYP2C8 in patients with OC, which provides a potent target for clinical OC treatment.
    Journal
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    BARD1 (BRCA1 Associated RING Domain 1) • CYP2C8 (Cytochrome P450 Family 2 Subfamily C Member 8)
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    paclitaxel
    1m
    Recontact and follow-up for individuals with germline pathogenic variants in hereditary breast and ovarian cancer susceptibility genes: a UK Cancer Genetics Group consensus meeting. (PubMed, J Med Genet)
    The consensus meeting broadly supported recontact and follow-up for most individuals with a GPV in a CSG. The consensus achieved by the multidisciplinary and expert group of healthcare professionals gives clear guidance on the long-term management of this patient cohort at increased lifetime risk of cancer and highlights the additional resources that would be required to effectively deliver this.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)