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    GENE:

    BRCA1 (Breast cancer 1, early onset)

    i
    Other names: BRCA1, BRCC1, PPP1R53, RNF53, Breast cancer 1, early onset
    22h
    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
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
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    BRCA2 mutation • BRCA1 mutation
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    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
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
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    BRCA2 mutation • BRCA1 mutation
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    Lynparza (olaparib) • Xtandi (enzalutamide) • abiraterone acetate • prednisone
    1d
    A Web-Based Program (Kindred) to Improve the Understanding of Genetic Cancer Risk and Cancer Genetic Testing in African American Families (clinicaltrials.gov)
    P=N/A, N=150, Not yet recruiting, University of Michigan Rogel Cancer Center
    New trial
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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)
    1d
    ScrePan: Pancreatic Cancer Screening in a Population at High Risk (clinicaltrials.gov)
    P=N/A, N=700, Recruiting, Masaryk Memorial Cancer Institute | Trial primary completion date: Dec 2025 --> Jun 2026
    Trial primary completion date
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    KRAS (KRAS proto-oncogene GTPase) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSH2 (MutS Homolog 2)
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    TP53 mutation • PALB2 mutation
    1d
    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
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    BRCA1 (Breast cancer 1, early onset) • BRCA (Breast cancer early onset) • MUC16 (Mucin 16, Cell Surface Associated)
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    BRCA1 mutation • BRCA mutation
    1d
    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
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ANXA5 (Annexin A5)
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    TP53 mutation • BRCA2 mutation • BRCA1 mutation • HRD • TP53 wild-type
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    Lynparza (olaparib) • carboplatin • eprenetapopt (APR-246)
    1d
    Unique social, identity, and community factors impact prophylactic surgery discussions in young adults who are BRCA1, BRCA2, and PALB2 positive. (PubMed, J Genet Couns)
    Participants desired more follow-up, better support and education around practical and emotional considerations for prophylactic surgery, and acknowledgment of personal and community factors that impacted them. Genetic counselors can personalize each visit to the patient and their needs by extensively contracting and bringing up topics that may be relevant and adjusting based on their preferences and values.
    Journal
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2)
    1d
    (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
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    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)
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    TP53 mutation • BRCA1 mutation • PALB2 mutation
    1d
    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
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    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)
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    BRCA2 mutation • BRCA1 mutation • PIK3CA mutation • HER-2 mutation • PTEN mutation
    4d
    A Novel PDZRN3::BRAF Fusion as Potential Driver Mechanism in BAP1-inactivated Melanocytoma. (PubMed, Am J Dermatopathol)
    Molecular analysis demonstrated BAP1 mutation and a novel fusion involving PDZRN3::BRAF. Our finding expands our current understanding of the molecular landscape and pathogenesis of BIMT.
    Journal • BRCA Biomarker
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    BRAF (B-raf proto-oncogene) • BRCA1 (Breast cancer 1, early onset) • BAP1 (BRCA1 Associated Protein 1) • BRCA (Breast cancer early onset) • RAF1 (Raf-1 Proto-Oncogene Serine/Threonine Kinase) • SOX10 (SRY-Box 10) • PRAME (Preferentially Expressed Antigen In Melanoma)
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    BRAF V600E • BRAF V600 • RAS mutation • BRAF fusion
    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
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    BRCA1 (Breast cancer 1, early onset)
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    BRCA1 mutation • BRCA wild-type