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    BIOMARKER:

    HR positive + BRCA1 mutation

    i
    Other names: ESR1, Era, ESR, NR3A1, ER, ER beta, PGR, Progesterone receptor, Nuclear receptor subfamily 3 group C member 3, NR3C3, BRCA1, BRCC1, PPP1R53, RNF53, Breast cancer 1, early onset,
    Entrez ID:
    2099; 5241; 672
    Related biomarkers:
    Expression
    Mutation
    CNA
    Fusion
    Others
    1year
    Germline mutation status of BRCA1/2 and other breast cancer predisposition genes as predictive and prognostic biomarker: Results of the GeparX study (GeparX-BRCA) (SABCS 2023)
    The trial randomized 780 patients twice to a total of 4 treatment groups (to receive or not receive denosumab; to receive nab-paclitaxel 125 mg/m2 weekly for 12 weeks or days 1 and 8 every 3 weeks for 4 cycles, both followed by 4 cycles of epirubicin/cyclophosphamide, 90/600 mg/m2 every 2 weeks/every 3 weeks according to the investigator´s choice). Carboplatin was given in triple-negative breast cancer (TNBC), and trastuzumab biosimilar ABP980 plus pertuzumab was given in human epidermal growth factor-2-positive (HER2+) BC... Irrespective of the treatment arm, higher pCR rates were observed in BRCA1/2 mutations carriers vs non-carriers. Both BRCA1/2 mutation carriers and non-carriers benefitted most from weekly nab-paclitaxel. No pronounced effect was observed for denosumab in either group.
    BRCA Biomarker
    |
    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)
    |
    BRCA2 mutation • BRCA1 mutation • HR positive • HR positive + BRCA1 mutation
    |
    carboplatin • Perjeta (pertuzumab) • albumin-bound paclitaxel • cyclophosphamide • epirubicin • Prolia (denosumab) • Kanjinti (trastuzumab-anns)