^
    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
    2d
    X-ray Psoralen Activated Cancer Therapy in Head and Neck, Breast, Sarcoma and Melanoma (clinicaltrials.gov)
    P1, N=52, Recruiting, Immunolight, LLC | N=20 --> 52
    Enrollment change
    |
    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) • BRCA (Breast cancer early onset)
    |
    HER-2 negative • ER negative
    |
    methoxsalen (X-PACT)
    2d
    Metabolomic-driven prediction of the mutational status of healthy individuals with a family history of hereditary breast and ovarian cancer syndrome: the HRRmet study. (PubMed, Sci Rep)
    The present study is the first to characterize the phenotype associated with the HRR-deficient genotype in healthy individuals with a familial history of HBOC. Metabolomic profiles may be useful for differentiating carriers from noncarriers of PVs in the HRR genes, and therefore, with potential predictive capacity of the HRR germline mutational status.
    Journal • BRCA Biomarker • Metabolomic study
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A)
    2d
    French recommendations for clinical practice, Nice-Saint-Paul de Vence 2024-2025: Management of high-grade ovarian epithelial cancer (PubMed, Bull Cancer)
    For these advanced diseases, the two main questions for surgical strategy are the feasibility of complete resection (without residual disease, CC-0), assessed during surgical exploration of pelvis and abdomen, and the optimal timing of this surgery (upfront or after neoadjuvant chemotherapy). In recurrent diseases, surgery remains a main piece of treatment in case of late relapse and medical treatment depends on drugs used in the first line; in early platinum resistant relapse, a new therapeutic option is available with mirvétuximab soravtansine.
    Clinical guideline • Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency)
    |
    HRD
    2d
    Homologous recombination repair mutations, next-generation sequencing testing, and treatment progression by race among patients with metastatic castration-sensitive prostate cancer. (PubMed, Urology)
    Although NGS testing rates have increased, with less disparity in most recent years, the testing rates are unacceptable for patients with mCSPC, overall and across racial groups, with the majority of patients progressing to the next treatment by 24 months.
    Journal • Next-generation sequencing • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency)
    2d
    lncRNA LUCAT1 Regulates DNA Damage Response in Glioma Stem Cells Under Hypoxia. (PubMed, Neuro Oncol)
    LUCAT1 is a critical DDR regulator in GSCs under hypoxia and a promising target to enhance the efficacy of DDR inhibitors and radiotherapy in GBM.
    Journal • BRCA Biomarker • PARP Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • HIF1A (Hypoxia inducible factor 1, alpha subunit) • RAD51 (RAD51 Homolog A) • LUCAT1 (Lung Cancer Associated Transcript 1)
    2d
    BRCA1 and BRCA2 carriers: Perceptions of endometrial cancer risk. (PubMed, Gynecol Oncol)
    Many carriers have limited knowledge of EC risk and do not receive consistent counseling about hysterectomy.
    Journal
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
    2d
    Male breast health and breast cancer risk. (PubMed, Maturitas)
    Management strategies for male breast cancer generally parallel female protocols, despite unique biological features. By integrating considerations of benign and malignant conditions, this review underscores the importance of tailored evaluation, risk assessment, and individualized care for males, while identifying knowledge gaps to inform future research and improve outcomes in this under-recognized population.
    Review • Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2)
    3d
    A Real-World Study of Precision Treatment for Advanced Cholangiocarcinoma Based on Molecular Subtyping (ChiCTR2500111407)
    P=N/A, N=55, Not yet recruiting, Fuzhou University Affiliated Provincial Hospital; Fuzhou University Affiliated Provincial Hospital
    New trial
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MET (MET proto-oncogene, receptor tyrosine kinase) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • RET (Ret Proto-Oncogene) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • NRG1 (Neuregulin 1) • VEGFA (Vascular endothelial growth factor A) • RNF43 (Ring Finger Protein 43) • TYK2 (Tyrosine Kinase 2) • NTRK (Neurotrophic receptor tyrosine kinase)
    |
    BRAF V600E • KRAS mutation • EGFR mutation • MSI-H/dMMR • HER-2 overexpression • HER-2 amplification • PIK3CA mutation • BRAF V600 • MET amplification • RET fusion • FGFR2 mutation • PALB2 mutation • FGFR2 fusion • MET mutation • IDH mutation + BRAF V600E • IDH mutation + NTRK fusion
    3d
    A Phase 1, Open-Label, Multicenter Study to Evaluate the Safety, Tolerability, Pharmacokinetics (PK), and Preliminary Efficacy of XZP-7797-H1 in Chinese Patients with Advanced/Metastatic Solid Tumors (ChiCTR2500112514)
    P1, N=56, Not yet recruiting, Beijing Cancer Hospital; Xuanzhu Biopharmaceutical Co., Ltd./Shandong XuanZhu Pharma Co., Ltd.
    New P1 trial
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency)
    3d
    A novel BRCA mutation classification system reveals differential responses to PARP inhibition and prognostic outcomes in epithelial ovarian cancer: a multicenter study. (PubMed, ESMO Open)
    Our novel classification revealed that PARPi efficacy and prognosis varied significantly by mutation location, with the central region linked to superior outcomes compared with the N- and C-terminal regions. Comprehensive mutation profiling should guide treatment decisions to optimize outcomes in patients with BRCA-mutated ovarian cancer.
    Clinical • Journal • BRCA Biomarker • PARP Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
    |
    BRCA mutation
    4d
    Genomic Landscape of Thymic Carcinoma: A Large-Scale Analysis of Somatic Mutations, Demographic Disparities, and Metastatic Drivers from the AACR Project GENIE® Cohort. (PubMed, Curr Issues Mol Biol)
    The identification of sex-associated and race-associated mutational patterns, together with the enrichment of MTOR alterations in recurrent and metastatic disease, highlights biologically plausible mechanisms of progression and potential therapeutic vulnerabilities. These findings support the value of comprehensive genomic profiling in TC and emphasize the need for prospective, multi-omic studies to validate these observations and guide the development of more personalized treatment strategies.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • mTOR (Mechanistic target of rapamycin kinase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • STAT5B (Signal Transducer And Activator Of Transcription 5B)
    |
    CDKN2A deletion
    4d
    Clinical Molecular Pathology and Treatment Developments in Advanced Uveal Melanoma: State of the Art. (PubMed, Oncol Res)
    Therapies targeting specific genetic alterations and immunotherapy agents have been recently developed and introduced in clinical practice for the management of advanced-stage UMs. This review aims to present the latest advances in the clinical molecular pathology of UM, along with the resulting targeted, immunological, and other therapies that have been introduced or are currently under investigation.
    Review • Journal • BRCA Biomarker • IO biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • GNAQ (G Protein Subunit Alpha Q) • SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11) • EIF1AX (Eukaryotic Translation Initiation Factor 1A X-Linked)