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    Association details:
    Biomarker:BRCA1 2110_2111delAA + BRCA1 4071_4096 +14del40 + TP53 R342P + NOTCH2 Q1310H
    Cancer:Ovarian Cancer
    Drug Class:PARP inhibitor +
    mTORC1 inhibitor
    Direction:Resistant
    Evidence:
    Evidence Level:
    Resistant: C4 – Case Studies
    Source:
    Cureus
    Title:

    Ovarian Cancer With Breast Metastasis and Two Pathogenic Variants of BRCA1 Gene

    Published date:
    10/11/2021
    Excerpt:
    ...42-year-old Chinese woman with high-grade serous ovarian carcinoma…ovarian tumor showed two BRCA1 pathogenic variants. Germline pathogenic variant of c.2110_2111DelAA and a somatic variant of c.4071_4096+14del40…additional oncogenic mutations; TP53 c.1025G>C p.R342P and NOTCH2 c.3930G> p.Q1310H...First trial PARP inhibitor with mTORC1/2 inhibitor or oral AKT inhibitors. According to RECIST1.1 (Response Evaluation Criteria in Solid Tumors) criteria, the patient showed disease progression.
    DOI:
    doi:10.7759/cureus.18691