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    GENE:

    BRCA2 (Breast cancer 2, early onset)

    i
    Other names: BRCA2, BRCC2, FACD, FAD, FAD1, FANCD, FANCD1, Breast cancer 2, early onset
    1d
    VarXOmics: a versatile web server for genomic data querying, analysis, and variant prioritization with multi-omics insights. (PubMed, J Mol Biol)
    It shows potential in identifying pathogenic variants and causal genes, uncovering the molecular mechanisms of disease pathogenesis, providing valuable references for clinical decision-making and therapeutic strategies, thus advancing precision medicine. VarXOmics is publicly available at https://www.phenomeportal.org/varxomics.
    Journal • BRCA Biomarker
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    BRCA2 (Breast cancer 2, early onset)
    3d
    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
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    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)
    3d
    Sequential platinum and PARP Inhibition enhances PD1 immunotherapy efficacy in murine Brca2 mutated pancreatic cancer. (PubMed, Sci Rep)
    However, the randomized phase III POLO trial, upon which this standard is based, did not demonstrate an improved overall survival in patients who received olaparib compared to those who received placebo, highlighting the need for new therapeutic approaches...The model demonstrated high sensitivity to cisplatin plus gemcitabine, but limited efficacy of PARPi monotherapy...The addition of anti-PD1 treatment to PARPi maintenance enhanced tumor regression and prolonged overall survival. These findings provide preclinical support for ongoing clinical trials investigating immunotherapy with PARPi as a maintenance strategy in homologous recombination-deficient PDAC.
    Preclinical • Journal • BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
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    BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset) • CDX2 (Caudal Type Homeobox 2)
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    BRCA mutation
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    Lynparza (olaparib) • cisplatin • gemcitabine
    3d
    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
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency)
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    HRD
    3d
    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
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency)
    3d
    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
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
    3d
    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
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2)
    3d
    Study on the Correlation Between Mutation Types of BRCA Gene-Positive Epithelial Ovarian Cancer and Clinical Baseline Characteristics, Pathological Features, and Prognosis (ChiCTR2600116755)
    P=N/A, N=80, Not yet recruiting, Linyi Tumor Hospital; Linyi Tumor Hospital
    New trial
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    BRCA2 (Breast cancer 2, early onset) • WT1 (WT1 Transcription Factor) • BRCA (Breast cancer early onset) • MUC16 (Mucin 16, Cell Surface Associated)
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    BRCA mutation
    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
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    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)
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    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
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency)
    4d
    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
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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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    BRCA mutation
    4d
    Ensemble Machine Learning on Bulk RNA-Seq Identifies 17-Gene Signature Predicting Neoadjuvant Chemotherapy Response in Breast Cancer. (PubMed, Curr Issues Mol Biol)
    Pathway enrichment revealed associations with cell cycle regulation (E2F3, MKI67), DNA repair (BRCA2), and transcriptional control (MED1), with six priority genes (MED1, BRCA2, E2F3, PITPNB, H1-1, and FARP2) showing established breast cancer relevance. This externally validated 17-gene signature provides a biologically grounded tool for NAC response prediction in precision oncology.
    Journal • Gene Signature • BRCA Biomarker
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    BRCA2 (Breast cancer 2, early onset) • MBD4 (Methyl-CpG Binding Domain 4, DNA Glycosylase) • E2F3 (E2F transcription factor 3)