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    BIOMARKER:

    BRCA1 rearrangement

    i
    Other names: BRCA1, BRCC1, PPP1R53, RNF53, Breast cancer 1, early onset
    Entrez ID:
    672
    Related biomarkers:
    Expression
    Mutation
    CNA
    Fusion
    Others
    over1year
    Longitudinal analysis of PARP inhibitor and platinum resistance in BRCA1/2m breast cancer using liquid biopsy (AACR 2023)
    Liquid biopsy profiling of PARPi-resistance breast cancer patients indicates that many patients develop multiple reversion mutations, and that alterations in the 53BP1-Shieldin pathway are present but less frequent. The co-occurrence of 53BP1-Shieldin pathway mutations and reversion mutations suggests parallel mechanisms of resistance can operate in the same patient.
    Liquid biopsy • BRCA Biomarker • PARP Biomarker • Biopsy
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • TP53BP1 (Tumor Protein P53 Binding Protein 1)
    |
    BRCA2 mutation • BRCA1 mutation • BRCA2 deletion • BRCA1 deletion • BRCA1 rearrangement
    2years
    BRAVO: A Phase III Trial of Niraparib Versus Physician's Choice in HER2 Negative, Germline BRCA Mutation-positive Breast Cancer Patients (clinicaltrials.gov)
    P3, N=216, Terminated, Tesaro, Inc. | Completed --> Terminated; The study was terminated due to futility.
    Trial termination
    |
    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 • EGFR mutation • HR positive • HER-2 negative • BRCA mutation • BRCA1 positive • BRCA1 rearrangement • BRCA2 positive
    |
    Zejula (niraparib)
    2years
    large genome rearrangement of BRCA1/2 in BRCA mutation negative ovarian cancer patients (AACR-NCI-EORTC 2022)
    The detection of more BRCA1/2 mutations in patients of ovarian cancer is important for efforts to provide targeted therapy. No
    Clinical • BRCA Biomarker • PARP Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
    |
    BRCA2 mutation • BRCA1 mutation • BRCA mutation • BRCA2 rearrangement • BRCA1 negative • BRCA1 rearrangement
    over3years
    5' Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints. (PubMed, Cancers (Basel))
    Taken together, our results firmly establish that the BRCA1 5' region is a frequent site of different LGRs and highlight the importance of the segmental duplication and Alu sequences, particularly the very high homologous region, in the mechanism of a recombination event. This also confirmed that those events are not systematically deleterious.
    Journal
    |
    BRCA1 (Breast cancer 1, early onset)
    |
    BRCA1 rearrangement
    over3years
    A novel BRCA1 duplication and new insights on the spectrum and frequency of germline large genomic rearrangements in BRCA1/BRCA2. (PubMed, Mol Biol Rep)
    Our data demonstrate that BRCA1-2 LGRs should be considered when ordering genetic testing for individuals with a personal or family history of cancer, particularly breast cancer. Further research could shed light on BRCA1-2 LGRs' unique carcinogenesis roles.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
    |
    BRCA2 mutation • BRCA1 mutation • BRCA2 deletion • BRCA1 deletion • BRCA1 rearrangement
    over3years
    Local Laboratory Testing of Germline BRCA Mutations vs. Myriad: A Single-Institution Experience in Korea. (PubMed, Diagnostics (Basel))
    All discrepancies were generated during interpretation of BRCA 2 gene sequencing. Further studies and standardization of genetic testing for BRCA 1/2 genes are required.
    Clinical • Journal • 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 • HER-2 negative • BRCA mutation • BRCA1 rearrangement