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Metastatic breast cancer with double heterozygosity for the BRCA1 and BRCA2 genes responding to olaparib: A case report

  • Authors:
    • Bin Shao
    • Lijun Di
  • View Affiliations / Copyright

    Affiliations: Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing), Department of Breast Oncology, Peking University Cancer Hospital and Institute, Beijing 100142, P.R. China
    Copyright: © Shao et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 253
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    Published online on: April 9, 2024
       https://doi.org/10.3892/ol.2024.14387
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Abstract

Olaparib was the first poly ADP‑ribose polymerase inhibitor approved for patients with cancer with mutations in either BRCA1 or BRCA2 in China. To the best of our knowledge, however, no study has described the efficacy of olaparib for patients with breast cancer with double mutations in BRCA1 and BRCA2. The present case report describes a patient with breast cancer with deleterious germline mutations in both BRCA1 and BRCA2. The 56‑year‑old patient with multiple metastatic breast cancer underwent breast cancer resection with 12 years interval between removal of the left and right breast. Germline mutations in both BRCA1 (S405X) and BRCA2 (W2990X) were identified by NGS. She received two cycles of chemotherapy with a combination of albumin‑bound paclitaxel and capecitabine; the response was progressive disease. Subsequently, the patient was treated with a gradual dosage of decreasing olaparib (600 to 300 mg BID) for 6 months until grade 3 anemia could not be alleviated by giving erythropoietin and iron, and CT imaging showed a partial response (35% reduction). The patient then switched to exemestane therapy due to the continuous grade 3 anemia. In conclusion, the present study reported a female patient with double heterozygosity of BRCA1 and BRCA2 who benefited from olaparib monotherapy. Thus, olaparib may be a suitable treatment for such patients.
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Copy and paste a formatted citation
Spandidos Publications style
Shao B and Di L: Metastatic breast cancer with double heterozygosity for the <em>BRCA1 </em>and <em>BRCA2</em> genes responding to olaparib: A case report. Oncol Lett 27: 253, 2024.
APA
Shao, B., & Di, L. (2024). Metastatic breast cancer with double heterozygosity for the <em>BRCA1 </em>and <em>BRCA2</em> genes responding to olaparib: A case report. Oncology Letters, 27, 253. https://doi.org/10.3892/ol.2024.14387
MLA
Shao, B., Di, L."Metastatic breast cancer with double heterozygosity for the <em>BRCA1 </em>and <em>BRCA2</em> genes responding to olaparib: A case report". Oncology Letters 27.6 (2024): 253.
Chicago
Shao, B., Di, L."Metastatic breast cancer with double heterozygosity for the <em>BRCA1 </em>and <em>BRCA2</em> genes responding to olaparib: A case report". Oncology Letters 27, no. 6 (2024): 253. https://doi.org/10.3892/ol.2024.14387
Copy and paste a formatted citation
x
Spandidos Publications style
Shao B and Di L: Metastatic breast cancer with double heterozygosity for the <em>BRCA1 </em>and <em>BRCA2</em> genes responding to olaparib: A case report. Oncol Lett 27: 253, 2024.
APA
Shao, B., & Di, L. (2024). Metastatic breast cancer with double heterozygosity for the <em>BRCA1 </em>and <em>BRCA2</em> genes responding to olaparib: A case report. Oncology Letters, 27, 253. https://doi.org/10.3892/ol.2024.14387
MLA
Shao, B., Di, L."Metastatic breast cancer with double heterozygosity for the <em>BRCA1 </em>and <em>BRCA2</em> genes responding to olaparib: A case report". Oncology Letters 27.6 (2024): 253.
Chicago
Shao, B., Di, L."Metastatic breast cancer with double heterozygosity for the <em>BRCA1 </em>and <em>BRCA2</em> genes responding to olaparib: A case report". Oncology Letters 27, no. 6 (2024): 253. https://doi.org/10.3892/ol.2024.14387
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