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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
    4d
    Contribution of large genomic rearrangements in BRCA1/2 genes and CHEK2 1100delC allele variant to the development of breast/ovarian cancer in Argentinian population. (PubMed, Breast Cancer Res Treat)
    LGRs in the BRCA1 gene contributed significantly to the burden of PVs responsible for the development of BC and OC in our study population. On the other hand, the 1100delC variant in CHEK2 was observed at a very low frequency in our series formed mainly by the Spanish, Italian and Amerindian ethnic groups.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CHEK2 (Checkpoint kinase 2)
    |
    BRCA2 rearrangement • BRCA1 rearrangement
    almost2years
    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)
    over2years
    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
    almost4years
    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