^
    Contact us  to learn more about
    our Premium Content:  News alerts, weekly reports and conference planners
    GENE:

    BRCA1 (Breast cancer 1, early onset)

    i
    Other names: BRCA1, BRCC1, PPP1R53, RNF53, Breast cancer 1, early onset
    1d
    TRIFOUR: Nadunolimab in Combination With Gemcitabine Plus Carboplatin in Patients With Advanced Triple Negative Breast Cancer. (clinicaltrials.gov)
    P1/2, N=117, Active, not recruiting, Cantargia AB | Trial primary completion date: Jun 2025 --> Apr 2026
    Trial primary completion date • BRCA Companion diagnostic • PARP Companion diagnostic
    |
    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • ER (Estrogen receptor) • PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset) • CD4 (CD4 Molecule)
    |
    BRCA2 mutation • BRCA1 mutation • HER-2 negative • HER-2 negative + HR negative • HER-2 negative + HR negative + BRCA mutation
    |
    PD-L1 IHC 22C3 pharmDx • Prosigna™ Breast Cancer Prognostic Gene Signature Assay
    |
    carboplatin • gemcitabine • nadunolimab (CAN04)
    2d
    Quality-of-life after risk-reducing mastectomy in women with increased risk of breast cancer: A longitudinal study. (PubMed, J Genet Couns)
    Additionally, risk-reducing mastectomy appears to alleviate future-oriented cancer concerns. This longitudinal evidence strengthens the basis for anticipatory guidance in genetic counseling and supports more balanced, evidence-informed decision-making.
    Observational data • Journal • HEOR
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    2d
    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
    |
    BRCA1 (Breast cancer 1, early onset) • BARD1 (BRCA1 Associated RING Domain 1)
    |
    BARD1 mutation
    2d
    Impact of telehealth genetic counseling on contralateral prophylactic mastectomy rates among multi-ethnic breast cancer patients. (PubMed, NPJ Womens Health)
    A trend toward higher CPM rates was observed among Hispanic versus NHW patients (OR = 1.34, 95% CI = 0.99-1.81, p = 0.055). Despite care delivery shifts, CPM rates remained stable.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    2d
    Distinct biological and molecular characteristics of breast cancer in young women: a narrative review. (PubMed, Ann Med Surg (Lond))
    This review synthesizes current knowledge on the unique tumor biology of breast cancer in young women, highlighting the need for precision oncology approaches that account for age-related tumor behavior. Enhanced characterization of this population may ultimately improve survival outcomes and quality of life for young women affected by breast cancer.
    Review • Journal • BRCA Biomarker • IO biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    |
    HER-2 positive • TP53 mutation • BRCA2 mutation • BRCA1 mutation
    3d
    BRCA2-dependent maturation of nascent strands during DNA replication. (PubMed, Mol Cell)
    Critically, this process is dependent on the tumor suppressors BRCA1 and BRCA2 and is associated with the BRCA2-dependent accumulation of RAD51 recombinase in chromatin. Our data identify nascent strand gaps that are induced by olaparib independently of replication fork reversal and/or PRIMPOL-mediated repriming and that are repaired by a BRCA2-dependent process that we propose is daughter-strand gap protection and/or repair occurring hundreds of kilobases behind DNA replication forks.
    Journal
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • RAD51 (RAD51 Homolog A)
    |
    Lynparza (olaparib)
    3d
    Comparative Analysis of Homologous Recombination Repair Status Across Gynecologic and Breast Cancers in Chinese Populations. (PubMed, Curr Cancer Drug Targets)
    The mutational patterns affecting homologous recombination repair differ across gynecologic and breast cancers. Further research into cancer-specific HRD mechanisms is warranted.
    Journal • Tumor mutational burden • BRCA Biomarker • PARP Biomarker
    |
    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • HRD (Homologous Recombination Deficiency) • JAK2 (Janus kinase 2) • PALB2 (Partner and localizer of BRCA2) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • BRCA (Breast cancer early onset) • EPHA5 (EPH Receptor A5)
    |
    TP53 mutation • BRCA2 mutation • BRCA1 mutation • PIK3CA mutation • HRD • PALB2 mutation • BRCA mutation
    3d
    Investigating the contribution of rare non-coding variants in BRCA1, BRCA2 and PALB2 to hereditary breast cancer. (PubMed, NPJ Breast Cancer)
    Tumor sequencing of 42 high-priority variants identified 11 (26.2%) with wild-type allele loss and high homologous recombination deficiency. Functional CRISPR/Cas9 knock-in assays in MCF10A cells confirmed that two deep intronic variants created aberrant splice sites, disrupted splicing and impacted transcript expression.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2)
    |
    HRD
    3d
    Clinically actionable alterations in Indian breast cancer patients derived through whole transcriptome sequencing. (PubMed, Indian J Med Res)
    Fusion transcript analysis identified 91 recurrent fusions, including novel partners with ERBB2, MED1, and CDK12, suggesting the possibility of unique molecular events. Interpretation and conclusions This study demonstrates that Indian breast cancer patients exhibit molecular subtypes and actionable mutations comparable to Caucasian cohorts.
    Review • Journal • BRCA Biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • FGFR2 (Fibroblast growth factor receptor 2) • PTEN (Phosphatase and tensin homolog) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • CDK12 (Cyclin dependent kinase 12) • MBD4 (Methyl-CpG Binding Domain 4, DNA Glycosylase)
    |
    HER-2 positive • TP53 mutation • BRCA2 mutation • ER positive • BRCA1 mutation • PIK3CA mutation • HER-2 expression • PTEN mutation • FGFR2 mutation • AKT1 mutation
    |
    Prosigna™ Breast Cancer Prognostic Gene Signature Assay
    4d
    The role of germline mutations in non-small cell lung cancer: A systematic review of emerging genetic drivers and clinical implications. (PubMed, Crit Rev Oncol Hematol)
    Germline mutations constitute a minority of NSCLC cases but carry important prognostic, predictive, and preventive implications. Systematic germline testing in selected patients, particularly those with early-onset disease, strong family history, or tumor sequencing suggestive of hereditary variants, could guide precision oncology, enable targeted treatments, and facilitate familial risk management.
    Review • Journal • BRCA Biomarker
    |
    EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2)
    4d
    NCI-2018-00115: Pembrolizumab in Treating Participants With Metastatic, Recurrent or Locally Advanced Cancer and Genomic Instability (clinicaltrials.gov)
    P2, N=21, Active, not recruiting, Rutgers, The State University of New Jersey | Recruiting --> Active, not recruiting | N=40 --> 21 | Trial completion date: Oct 2023 --> Sep 2027
    Enrollment closed • Enrollment change • Trial completion date • Pan tumor
    |
    PD-L1 (Programmed death ligand 1) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • POLE (DNA Polymerase Epsilon) • POLD1 (DNA Polymerase Delta 1)
    |
    BRCA1 mutation • POLD1 mutation
    |
    Keytruda (pembrolizumab)
    4d
    Differential sensitivity of MCPH1- and BRCA2-deficient cancer cells to PARP-1 inhibition. (PubMed, PLoS One)
    In contrast, BRCA2-deficient cells showed a far greater defect in HRR and consistent sensitivity to both PARP-1 inhibitors, which was not enhanced by co-depletion of MCPH1. These data suggest that the magnitude of HRR defect in cancer cells influences PARP-1 inhibitor sensitivity and BRCA2 retains significant functionality in the absence of MCPH1.
    Journal
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • RAD51 (RAD51 Homolog A)