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    BIOMARKER:

    BRCA2 rearrangement

    i
    Other names: BRCA2, BRCC2, FACD, FAD, FAD1, FANCD, FANCD1, Breast cancer 2, early onset
    Entrez ID:
    675
    Related biomarkers:
    Expression
    Mutation
    CNA
    Fusion
    Others
    12ms
    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
    almost3years
    Efficacy of PARP inhibitors in patients with advanced high grade serous ovarian cancer according to BRCA domain mutations. (ESMO-GC 2023)
    Although limited by a small cohort size our analysis suggests that DNA-BD BRCA2mut may predict increased sensitivity to PARPi. Legal entity responsible for the study Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.
    Clinical • BRCA Biomarker • PARP Biomarker • Metastases
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset) • RAD51 (RAD51 Homolog A)
    |
    BRCA2 mutation • BRCA1 mutation • BRCA mutation • BRCA2 rearrangement
    over3years
    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
    Mitotic DNA synthesis is caused by transcription-replication conflicts in BRCA2-deficient cells. (PubMed, Mol Cell)
    Importantly, the MiDAS sites identified in BRCA2-deficient cells also represent hotspots for genomic rearrangements in BRCA2-mutated breast tumors. Thus, our work provides a mechanism for how tumor-predisposing BRCA2 inactivation links transcription-induced DNA damage with mitotic DNA repair to fuel the genomic instability characteristic of cancer cells.
    Journal • BRCA Biomarker
    |
    BRCA2 (Breast cancer 2, early onset)
    |
    BRCA2 mutation • BRCA2 rearrangement