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    BIOMARKER:

    BRCA1 mutation

    i
    Other names: BRCA1, BRCC1, PPP1R53, RNF53, Breast cancer 1, early onset
    Entrez ID:
    672
    Related biomarkers:
    Expression
    Mutation
    CNA
    Fusion
    Others
    Related tests:
    1d
    EvoPAR-PR02: A Study of Metastases Free Survival With Saruparib vs Placebo Added to a Standard RT/ADT in Men With High-risk Prostate Cancer With a BRCA Mutation (clinicaltrials.gov)
    P3, N=700, Recruiting, AstraZeneca
    Trial initiation date
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
    |
    BRCA2 mutation • BRCA1 mutation
    |
    abiraterone acetate • prednisone • saruparib (AZD5305)
    1d
    Clinical Study to Assess the Efficacy and Safety of Olaparib in Chinese Patients With Metastatic Castration-Resistant Prostate Cancer Who Have Failed Prior Treatment With a New Hormonal Agent and Have BRCA1/2 Mutations (clinicaltrials.gov)
    P4, N=43, Active, not recruiting, AstraZeneca | Completed --> Active, not recruiting | Trial completion date: Jul 2025 --> Dec 2026
    Enrollment closed • Trial completion date
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    |
    BRCA2 mutation • BRCA1 mutation
    |
    Lynparza (olaparib) • Xtandi (enzalutamide) • abiraterone acetate • prednisone
    2d
    Management of incidental STIC lesions with and without BRCA mutations: a survey of current clinical practice in Austria, Germany, and Switzerland. (PubMed, Arch Gynecol Obstet)
    This survey demonstrates differences in the clinical management of isolated STIC across German-speaking countries, highlighting discrepancies between guideline recommendations and real-world practices. THIS STUDY IS REGISTERED IN THE GERMAN CLINICAL TRIALS REGISTER UNDER : DRKS00033112.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA (Breast cancer early onset) • MUC16 (Mucin 16, Cell Surface Associated)
    |
    BRCA1 mutation • BRCA mutation
    2d
    Eprenetapopt in combination with carboplatin in high-grade ovarian and triple negative breast cancer cell lines with acquired resistance to olaparib. (PubMed, Front Oncol)
    Combining eprenetapopt with carboplatin shows promising preclinical efficacy by enhancing cytotoxicity in olaparib-resistant models and demonstrating synergistic interaction; these data support the combination as a potential strategy to mitigate PARPi resistance and carboplatin cross-resistance in TP53 mutant HGSOC and TNBC cell lines. Although further studies are needed to elucidate the molecular mechanisms underlying the synergistic effect, here we point out the combination of eprenetapopt and carboplatin as a potential therapeutic strategy to address olaparib resistance in HGSOC and TNBC patients.
    Preclinical • Journal • BRCA Biomarker • PARP Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ANXA5 (Annexin A5)
    |
    TP53 mutation • BRCA2 mutation • BRCA1 mutation • HRD • TP53 wild-type
    |
    Lynparza (olaparib) • carboplatin • eprenetapopt (APR-246)
    2d
    (E)-Labda dial-Loaded Nanoparticles for Triple Negative Breast Cancer. (PubMed, Curr Drug Targets)
    This work lays the basis for precision and personalised treatment for TNBC patients. However, future optimisation and clinical validation of these nanoparticles can be done in future to determine their translational potential for use in practice.
    Journal • BRCA Biomarker
    |
    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) • BARD1 (BRCA1 Associated RING Domain 1)
    |
    TP53 mutation • BRCA1 mutation • PALB2 mutation
    2d
    The use of cell-free DNA (cfDNA)/circulating tumor DNA (ctDNA) to guide treatment selection in metastatic breast cancer. (PubMed, Pharmacogenomics)
    Actionable genomic mutations such as PIK3CA, ESR1, ERBB2, BRCA1/2, and AKT/PTEN are reviewed in relation to their corresponding therapeutic agents. Implementation challenges, pre-analysis pitfalls, uncertain sampling cadence, cost barriers, and disparities in access are discussed, along with potential solutions.
    Review • Journal • BRCA Biomarker • Circulating tumor DNA
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog)
    |
    BRCA2 mutation • BRCA1 mutation • PIK3CA mutation • HER-2 mutation • PTEN mutation
    5d
    A report of novel inactivating missense mutations of BRCA1 detected in patients with acute myeloid leukemia. (PubMed, J Med Case Rep)
    This study reveals the mutational spectrum of BRCA1 in patients with acute myeloid leukemia, representing unique missense and novel pathogenic mutations that can be further targeted for designing diagnostic and therapeutic strategies for acute myeloid leukemia.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset)
    |
    BRCA1 mutation • BRCA wild-type
    5d
    Characteristics and outcomes of patients with endometriosis and malignant or borderline ovarian tumors: real-world evidence from an ESGO centre of excellence. (PubMed, BMC Cancer)
    Prognosis appears to be driven primarily by tumor biology, stage, and surgical outcome rather than the presence of endometriosis itself. The online version contains supplementary material available at 10.1186/s12885-026-15980-w.
    Journal • HEOR • Real-world evidence • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    |
    BRCA2 mutation • BRCA1 mutation
    5d
    Increasing Use of Germline Genetic Testing in Pancreatic Ductal Adenocarcinoma and Relationship to Clinical Outcome: A Single-Institution Study. (PubMed, JCO Precis Oncol)
    GGT prevalence has increased at RPCCC and informed treatment decisions. Universal point-of-care testing is being implemented with the goal of completing testing for all patients with PDAC seen at RPCCC.
    Clinical data • Journal • BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSH6 (MutS homolog 6)
    |
    BRCA2 mutation • BRCA1 mutation
    |
    Keytruda (pembrolizumab) • Lynparza (olaparib)
    7d
    The complex landscape of non-coding RNAs in olaparib response and resistance. (PubMed, Cancer Treat Res Commun)
    Subsequently, we explore how olaparib treatment itself can alter the expression profile of ncRNAs, creating a dynamic feedback loop that may influence therapeutic outcome. By consolidating these findings across various cancers, including ovarian, breast, prostate, and hepatocellular carcinoma, this review highlights the potential of ncRNAs as both predictive biomarkers and therapeutic targets to overcome PARPi resistance and enhance patient outcomes.
    Review • Journal • BRCA Biomarker • PARP Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • RAD51 (RAD51 Homolog A) • STING (stimulator of interferon response cGAMP interactor 1)
    |
    BRCA2 mutation • BRCA1 mutation
    |
    Lynparza (olaparib)
    7d
    DENALI: A Study of Azenosertib (ZN-c3) in Subjects With Platinum-Resistant High-Grade Serous Ovarian, Fallopian Tube or Primary Peritoneal Cancer (clinicaltrials.gov)
    P2, N=310, Recruiting, K-Group, Beta, Inc., a wholly owned subsidiary of Zentalis Pharmaceuticals, Inc | N=170 --> 310
    Enrollment change • Platinum resistant
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CCNE1 (Cyclin E1) • BRCA (Breast cancer early onset)
    |
    BRCA2 mutation • BRCA1 mutation • BRCA mutation
    |
    azenosertib (ZN-c3)
    9d
    NIRVANA-1: Niraparib With beVAcizumab After Complete cytoreductioN in Patients With ovArian Cancer (clinicaltrials.gov)
    P2, N=390, Recruiting, ARCAGY/ GINECO GROUP | Trial completion date: Feb 2030 --> Feb 2032
    Trial completion date
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA (Breast cancer early onset)
    |
    BRCA2 mutation • BRCA1 mutation • BRCA mutation
    |
    carboplatin • paclitaxel • Zejula (niraparib)