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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:
    2d
    COCOS: Testing the Combination of Cediranib and Olaparib in Comparison to Each Drug Alone or Other Chemotherapy in Recurrent Platinum-Resistant Ovarian Cancer (clinicaltrials.gov)
    P2/3, N=582, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Jul 2026 --> Dec 2026
    Trial completion date • Platinum resistant
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset) • MUC16 (Mucin 16, Cell Surface Associated)
    |
    BRCA2 mutation • BRCA1 mutation • BRCA mutation
    |
    Lynparza (olaparib) • paclitaxel • pegylated liposomal doxorubicin • topotecan • Recentin (cediranib) • Myocet (non-pegylated liposomal doxorubicin) • Duomeisu (pegylated liposomal doxorubicin)
    2d
    NRG-GY023: Comparison of Standard of Care Treatment With a Triplet Combination of Targeted Immunotherapeutic Agents (clinicaltrials.gov)
    P2, N=120, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Jun 2026 --> Nov 2026
    Trial completion date • Platinum resistant
    |
    PD-L1 (Programmed death ligand 1) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    |
    BRCA2 mutation • BRCA1 mutation
    |
    Avastin (bevacizumab) • Lynparza (olaparib) • Imfinzi (durvalumab) • paclitaxel • pegylated liposomal doxorubicin • topotecan • Recentin (cediranib) • Myocet (non-pegylated liposomal doxorubicin) • Duomeisu (pegylated liposomal doxorubicin)
    2d
    AI-based BRAIx risk score for the intermediate-term prediction of breast cancer: a population cohort study. (PubMed, Lancet Digit Health)
    The BRAIx risk score is a strong intermediate-term predictor of breast cancer (current to 4-year risk). Calibrating the score on a training dataset produces population-specific probabilities for calculating individual-specific risk scores for screening clients based on their mammogram images. These risk scores enable future development of personalised screening pathways to transform population breast cancer screening and save lives. Identification of women given an all clear but at very high risk, similar to those carrying BRCA1 and BRCA2 mutations, could reveal insights into both familial and non-familial causes of breast cancer.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    |
    BRCA2 mutation • BRCA1 mutation
    3d
    Uterine tumors resembling ovarian sex cord tumors: rare case report and literature review. (PubMed, Front Oncol)
    At 20 months the patient is disease-free with regular menses and intact fertility. We review diagnostic clues, differential diagnoses, molecular taxonomy and fertility-sparing strategies, underscoring the value of comprehensive genomic profiling for accurate classification and prognostication of this uncommon uterine tumor.
    Journal • BRCA Biomarker
    |
    ER (Estrogen receptor) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • WT1 (WT1 Transcription Factor) • NCAM1 (Neural cell adhesion molecule 1) • NR4A3 (Nuclear receptor subfamily 4 group A member 3) • SYP (Synaptophysin) • NCOA2 (Nuclear Receptor Coactivator 2)
    |
    TP53 mutation • BRCA2 mutation • BRCA1 mutation
    3d
    Testing the Combination of the Study Drugs Cediranib and Olaparib in Recurrent Ovarian Cancer (clinicaltrials.gov)
    P2, N=70, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Aug 2026 --> Nov 2026
    Trial completion date
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
    |
    BRCA2 mutation • BRCA1 mutation • BRCA mutation
    |
    Lynparza (olaparib) • Recentin (cediranib)
    3d
    NRG-GY004: Testing the Use of A Single Drug (Olaparib) or the Combination of Two Drugs (Cediranib and Olaparib) Compared to the Usual Chemotherapy for Women With Platinum Sensitive Ovarian, Fallopian Tube, or Primary Peritoneal Cancer (clinicaltrials.gov)
    P3, N=579, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Aug 2026 --> Nov 2026
    Trial completion date • Platinum sensitive
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
    |
    BRCA2 mutation • BRCA1 mutation • BRCA mutation
    |
    Lynparza (olaparib) • carboplatin • gemcitabine • paclitaxel • pegylated liposomal doxorubicin • Recentin (cediranib) • Myocet (non-pegylated liposomal doxorubicin) • Duomeisu (pegylated liposomal doxorubicin)
    3d
    Homologous recombination deficiency in high-grade serous ovarian carcinoma: clinical pathological characteristics, impact of neoadjuvant chemotherapy, and prognostic implications. (PubMed, J Gynecol Oncol)
    HRD status is a prognostic biomarker in HGSC. Its correlation with SET patterns supports histology as an initial screening tool. Importantly, NACT is correlated with reduced detectable HRD positivity and lower GSS, underscoring the need for HRD testing before chemotherapy to ensure accurate assessment and guide treatment.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency)
    |
    BRCA2 mutation • BRCA1 mutation • HRD • BRCA wild-type
    |
    AmoyDx® HRD Complete Panel​
    4d
    Neoadjuvant pembrolizumab plus chemotherapy in older patients with early-stage triple-negative breast cancer: real-world insights from neo-real/GBECAM-0123. (PubMed, NPJ Breast Cancer)
    Older patients experienced a significantly higher toxicity burden, with increased rates of treatment discontinuation, dose reductions, treatment delays, hospitalizations, and grade ≥3 neutropenia. Taken together, these data indicate that older patients with TNBC harbor distinct biological and clinical features with numerically lower pCR rates, and that the increased toxicity burden underscores the need for personalized treatment strategies and dedicated research in this population.
    Journal • Real-world evidence • BRCA Biomarker • PD(L)-1 Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    |
    BRCA2 mutation • BRCA1 mutation
    |
    Keytruda (pembrolizumab)
    7d
    From prostate specific antigen to genomic signatures: Advances in biomarkers for prostate cancer diagnosis and prognosis. (PubMed, Transl Oncol)
    Additionally, the review addresses key genetic alterations implicated in prostate carcinogenesis, including mutations in BRCA1/2, HOXB13, and PTEN deletions, as well as changes in the androgen receptor pathway. By evaluating recent advancements and applications of these biomarkers, this review aims to enhance understanding of their role in improving early diagnosis, prognosis, and personalised management of prostate cancer.
    Review • Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • AR (Androgen receptor) • ERG (ETS Transcription Factor ERG) • HOXB13 (Homeobox B13) • PCA3 (Prostate cancer associated 3) • PSAP (Prostatic Acid Phosphatase)
    |
    BRCA2 mutation • BRCA1 mutation • PTEN deletion • PTEN mutation
    |
    Decipher Prostate Cancer Test • ExoDx™ Prostate (IntelliScore) Test • Oncotype DX Genomic Prostate Score® Assay • SelectMDx
    7d
    HERO: Characterization of Epithelial Ovarian Cancer Patients in Terms of Homologous Recombination Phenotype (clinicaltrials.gov)
    P=N/A, N=1000, Recruiting, Nordic Society of Gynaecological Oncology - Clinical Trials Unit | N=350 --> 1000 | Trial completion date: Dec 2028 --> Jul 2032 | Trial primary completion date: Dec 2028 --> May 2028
    Enrollment change • Trial completion date • Trial primary completion date
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
    |
    BRCA2 mutation • BRCA1 mutation
    7d
    A Study on the Use of Fluzoparib Combined With Chemotherapy for Neoadjuvant Treatment of HRD-positive, HR+/HER2- Breast Cancer (clinicaltrials.gov)
    P2, N=28, Recruiting, Xijing Hospital | Trial completion date: Dec 2025 --> Dec 2026 | Trial primary completion date: Nov 2025 --> Nov 2026
    Trial completion date • Trial primary completion date
    |
    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) • HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset)
    |
    BRCA2 mutation • ER positive • BRCA1 mutation • HER-2 negative • HRD • HER-2 negative + AR positive + ER positive • HER-2 negative + ER positive
    |
    docetaxel • cyclophosphamide • AiRuiYi (fluzoparib)
    8d
    Defective BRCA1-mediated DNA end resection drives tandem duplication formation and FANCM synthetic lethality. (PubMed, bioRxiv)
    In contrast, Fancm deletion is well-tolerated by Brca1 CC mutant mES cells. Thus, Group 1 TD formation and Fancm synthetic lethality are linked phenotypes related to defective BRCA1-mediated DNA end resection.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • FANCM (FA Complementation Group M)
    |
    BRCA1 mutation