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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
1d
Identification of BRCA1-Associated RING Domain 1 Mutation as a Novel Indicator for Constructing a Prognostic Nomogram in Multiple Myeloma: A Retrospective Single-Center Study. (PubMed, Cancer Manag Res)
The nomogram, innovatively combining the BARD1 gene with R2-ISS staging, effectively predicts the prognosis of NDMM. Although this study is limited by the relatively small number of patients with BARD1 mutations, the outcome may aid us in comprehending the role of genetic mutations in NDMM and further in the investigation of drugs targeting this gene.
Retrospective data • Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BARD1 (BRCA1 Associated RING Domain 1)
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BARD1 mutation
6d
Germline Mutations Related to Complete Remission After Neoadjuvant Chemotherapy in Patients With Triple-negative Breast Cancer. (PubMed, J Breast Cancer)
Germline P&LP mutations in TNBC patients can be detected by gNGS. This panel test can identify BRCA and BRCAness mutations that may predict ypCR in TNBC.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)
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BRCA mutation
6d
Resolution of R-loops and transcription-replication conflicts by SETX-BRCA1-BARD1 complex. (PubMed, Nat Struct Mol Biol)
Accordingly, mutations impacting the catalytic domain or Ser642 in SETX lead to R-loop accumulation, transcription-replication conflicts, replication fork stalling and DNA double-strand breaks in human cells. Thus, our results delineate the molecular basis for functional synergy between SETX and BRCA1-BARD1 in R-loop resolution and the mitigation of transcription-replication conflicts to preserve genome integrity.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BARD1 (BRCA1 Associated RING Domain 1) • RAD52 (RAD52 Homolog DNA Repair Protein)
7d
Trial completion date
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KRAS (KRAS proto-oncogene GTPase) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • 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) • BARD1 (BRCA1 Associated RING Domain 1)
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KRAS mutation • BRCA2 mutation • BRCA1 mutation • KRAS G12C • KRAS G12 • BRIP1 mutation • RAD51C mutation • RAD51D mutation • BARD1 mutation
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Talzenna (talazoparib) • ZEN-3694
11d
Assessment of Homologous Recombination System Gene Expression in Chemologically Induced Carcinogenesis In Vivo Models. (PubMed, Curr Issues Mol Biol)
Our findings confirm that MC and TCA influence tumor formation and reveal that suppression of homologous recombination genes may contribute to this process. In addition, it has been established that as tumors progress, the expression of DNA repair genes declines and aberrant gene states accumulate. These data emphasize the importance of studying the state of DNA repair genes for the development of more effective strategies for cancer diagnosis and therapy.
Preclinical • Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • RAD51 (RAD51 Homolog A) • POLD1 (DNA Polymerase Delta 1) • BARD1 (BRCA1 Associated RING Domain 1) • RAD52 (RAD52 Homolog DNA Repair Protein)
11d
BARD1 recognizes pre-rRNA for DNA damage repair and rRNA biogenesis. (PubMed, J Biol Chem)
Loss of BARD1 reduces levels of pre-rRNA and neosynthesized protein. Collectively, this study reveals that BARD1 plays a crucial role in both DSB repair and protein synthesis.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BARD1 (BRCA1 Associated RING Domain 1)
14d
A Phase I/II Study of Sacituzumab Govitecan Plus Berzosertib in Small Cell Lung Cancer, Extra-Pulmonary Small Cell Neuroendocrine Cancer and Homologous Recombination-Deficient Cancers Resistant to PARP Inhibitors (clinicaltrials.gov)
P1/2, N=120, Recruiting, National Cancer Institute (NCI) | Trial completion date: Mar 2027 --> Mar 2029 | Trial primary completion date: Mar 2026 --> Mar 2028
Trial completion date • Trial primary completion date
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • CDK12 (Cyclin dependent kinase 12) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • FANCL (FA Complementation Group L) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha)
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BRCA1 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • CHEK2 mutation • BRIP1 mutation • RAD51C mutation • RAD51D mutation • RAD51B mutation • BARD1 mutation • CHEK1 mutation • RAD54L mutation
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berzosertib (M6620) • Trodelvy (sacituzumab govitecan-hziy)
19d
Comprehensive genomic analysis of non-BRCA familial breast cancer in an Arab population. (PubMed, NPJ Breast Cancer)
PRS assessment identified four PRSs with good discriminatory power (AUC > 0.690), with PGS003738 showing the highest performance (AUC = 0.702, top decile OR = 3.57). These findings highlight the need for population-specific genetic studies to improve breast cancer risk stratification in Arab populations.
Journal • BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • PALB2 (Partner and localizer of BRCA2) • BRCA (Breast cancer early onset) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1)
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BRCA2 mutation • BRCA1 mutation
19d
Genomic Features and Response to Poly(ADP-ribose) Polymerase Inhibition in Metastatic Castration-Resistant Prostate Cancer. (PubMed, JCO Precis Oncol)
Most PARPi responders had alterations in HRR genes, particularly BRCA2, although some responders lacked known biomarkers associated with PARPi response. Our findings in this real-world data set support HRR gene testing for PARPi use in mCRPC and highlight the need for novel genome-wide biomarkers for patient selection.
Observational data • Retrospective data • Journal • BRCA Biomarker • PARP Biomarker
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BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • BARD1 (BRCA1 Associated RING Domain 1)
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BRCA2 mutation • BRCA mutation
22d
Optimizing GRIDSS for clinical use: A targeted NGS filtering strategy for germline structural variant detection. (PubMed, Eur J Hum Genet)
Altogether, GRIDSS implementation increased diagnostic yield while maintaining feasibility for diagnostic workflows. Comprehensive workflow scheme for germline structural variant detection and results in our diagnostic setting.
Journal • Next-generation sequencing • BRCA Biomarker
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BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • MSH6 (MutS homolog 6) • BARD1 (BRCA1 Associated RING Domain 1)
25d
Integrated Liquid Biopsy and Tumor Tissue Genomic Profiling of Appendiceal Cancer: cfDNA Burden, Mutation Landscapes, and Clinical Outcomes. (PubMed, Ann Surg Oncol)
This study supports integrating comprehensive ctDNA assays into standard diagnostic and treatment pathways for AC using large gene panels. TP53, SMAD4, SPTA1, and GNAS mutations serve as prospective tumor-specific molecular classifiers for histological grade, while germline variants in NOTCH4 and BARD1 may further influence disease biology, with ZFHX3, ADGRA2, POLE, and TCF3 affecting grade stratification. Overall cfDNA concentration may serve as a potential prognostic biomarker in AC.
Clinical data • Journal • Liquid biopsy • Tumor mutational burden • BRCA Biomarker
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • SMAD4 (SMAD family member 4) • NOTCH4 (Notch 4) • TCF3 (Transcription Factor 3) • BARD1 (BRCA1 Associated RING Domain 1) • GNAS (GNAS Complex Locus) • ZFHX3 (Zinc Finger Homeobox 3) • SPTA1 (Spectrin Alpha) • SFTPA1 (Surfactant Protein A1)
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KRAS mutation • BARD1 mutation