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BIOMARKER:

BRCA mutation

i
Other names: BRCA, Breast cancer, early onset
Related biomarkers:
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
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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)
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TP53 mutation • BRCA2 mutation • BRCA1 mutation • PIK3CA mutation • HRD • PALB2 mutation • BRCA mutation
4d
Regulation of mitochondrial ROS by C15ORF48 in a basal cell subpopulation contributes to chemotherapy resistance in TNBC. (PubMed, Sci Adv)
To define mechanisms of resistance, we performed single-cell RNA sequencing on orthotopic TNBC patient-derived xenografts during a cycle of treatment with doxorubicin and cyclophosphamide (AC). Thus, the up-regulation of C15ORF48 blunts ROS accumulation and induces resistance to chemotherapy in the basal cell subpopulations. Our findings identify C15ORF48 as a potential therapeutic target for overcoming AC resistance in TNBC.
Journal • BRCA Biomarker • IO biomarker
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BRCA (Breast cancer early onset)
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BRCA mutation
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doxorubicin hydrochloride • cyclophosphamide
5d
Real-world outcomes following PARP inhibitor maintenance in ovarian cancer by BRCA status: a retrospective cohort study. (PubMed, ESMO Real World Data Digit Oncol)
The study underscores previous concerns that initiating PARPi in the first line may impact treatment duration and intervals for subsequent therapies in patients with ovarian cancer. Future investigations should explore the interplay of PARPi maintenance in the first-line setting, HRD status, and response to subsequent platinum-based therapies.
Retrospective data • Journal • Real-world evidence • BRCA Biomarker • PARP Biomarker
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HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset)
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HRD • BRCA mutation
5d
Cyclophosphamide and Veliparib in Treating Patients With Locally Advanced or Metastatic Breast Cancer (clinicaltrials.gov)
P1, N=35, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Mar 2026 --> Mar 2027
Trial completion date
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
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BRCA1 mutation • HER-2 negative • PGR positive • BRCA mutation
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cyclophosphamide • veliparib (ABT-888)
5d
Intraperitoneal FT536 in Recurrent Ovarian, Fallopian Tube, and Primary Peritoneal Cancer (clinicaltrials.gov)
P1, N=3, Active, not recruiting, Masonic Cancer Center, University of Minnesota | N=33 --> 3 | Trial primary completion date: Dec 2026 --> Mar 2026 | Recruiting --> Active, not recruiting
Enrollment closed • Enrollment change • Trial primary completion date
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BRCA (Breast cancer early onset)
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BRCA mutation
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fludarabine IV
6d
Vascular Protection of Poly(ADP-ribose) Polymerase Inhibitors in the Combination Therapy With Vascular Endothelial Growth Factor Signaling Pathway Inhibitors. (PubMed, Rev Cardiovasc Med)
Clinically, PARPIs, in combination with anti-angiogenic therapies, not only show efficacy as monotherapies in epithelial ovarian cancer but also mitigate hypertension induced by anti-angiogenic agents. This review consolidates recent advancements in understanding the dual therapeutic potential of PARP inhibition, encompassing both antineoplastic and cardioprotective effects.
Review • Journal • BRCA Biomarker • PARP Biomarker
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BRCA (Breast cancer early onset)
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BRCA mutation
6d
Clinicopathologic and molecular predictors of survival in BRCA-deficient tubo-ovarian high-grade serous carcinoma. (PubMed, Nat Commun)
BRCA1-deficient tumors in short survivors have evidence of immunosuppressive c-kit signaling and EMT. Our findings confirm that outcome is not determined by BRCA status alone, but rather a combination of co-occurring genomic alterations, the extent of DNA repair deficiency, and the tumor-immune microenvironment.
Journal • BRCA Biomarker
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PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • HRD (Homologous Recombination Deficiency) • NF1 (Neurofibromin 1) • BRCA (Breast cancer early onset) • RAD21 (RAD21 Cohesin Complex Component) • DRD (DNA Repair Deficiency)
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HRD • DDR • BRCA mutation
6d
Clinical • Journal • Real-world evidence • BRCA Biomarker
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HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
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HER-2 positive • BRCA2 mutation • BRCA1 mutation • HR positive • HER-2 negative • HER-2 mutation • BRCA wild-type • HR positive + HER-2 negative • BRCA mutation • HER-2 negative + HR positive + BRCA mutation
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Prolia (denosumab)
6d
Enrollment change • Platinum resistant
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BRCA (Breast cancer early onset)
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BRCA mutation
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paclitaxel • pegylated liposomal doxorubicin • Elahere (mirvetuximab soravtansine-gynx) • topotecan • torvutatug samrotecan (AZD5335)
7d
Germline Mutations Related to Complete Remission After Neoadjuvant Chemotherapy in Patients With Triple-negative Breast Cancer. (PubMed, J Breast Cancer)
Germline P&LP mutations in TNBC patients can be detected by gNGS. This panel test can identify BRCA and BRCAness mutations that may predict ypCR in TNBC.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)
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BRCA mutation
7d
Novel targeted therapies and immunological strategies for breast cancer treatment. (PubMed, Biochem Pharmacol)
Collectively, these modalities represent a multifaceted armamentarium aimed at overcoming resistance and improving outcomes. This review highlights the current landscape of targeted and immunological strategies in BC, synthesizes efficacy and safety data across therapeutic classes, and identifies critical knowledge gaps including biomarker development, resistance mechanisms, and the need for rationally designed combination regimens.
Review • Journal • BRCA Biomarker • PARP Biomarker • IO biomarker
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FGFR (Fibroblast Growth Factor Receptor) • BRCA (Breast cancer early onset)
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HR positive • BRCA mutation
9d
New P2/3 trial • Platinum resistant
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BRCA (Breast cancer early onset)
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BRCA mutation
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paclitaxel • Elahere (mirvetuximab soravtansine-gynx) • topotecan • torvutatug samrotecan (AZD5335)