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    Association details:
    Biomarker:BRCA1 E1446*
    Cancer:Breast Cancer
    Drug:Lynparza (olaparib) (PARP inhibitor)
    Direction:Sensitive
    Evidence:
    Evidence Level:
    Sensitive: C4 – Case Studies
    Source:
    Cancer Res Treat
    Title:

    Efficacy of Olaparib in Treatment-Refractory, Metastatic Breast Cancer with Uncommon Somatic BRCA Mutations Detected in Circulating Tumor DNA

    Published date:
    01/31/2023
    Excerpt:
    Here, we describe a patient with metastatic breast cancer who had a rare BRCA1 somatic mutation (BRCA1 c.4336G>T (p.E1446*))...The patient responded well to olaparib for several months, with a decrease in allele frequency of this BRCA1 somatic mutation in cfDNA.... To our knowledge, this is the first report confirming BRCA1 c.4336G>T (p.E1446*) as a mutation sensitive to olaparib in breast cancer and describing the dynamic changes in the associated mutations using liquid biopsy.
    DOI:
    https://doi.org/10.4143/crt.2022.1529