@article{3101342, title = "Durable Clinical Benefit of Pertuzumab in a Young Patient with BRCA2 Mutation and HER2-Overexpressing Breast Cancer Involving the Brain", author = "Koumarianou, A. and Kontopoulou, C. and Kouloulias, V. and Tsionou, C.", journal = "Case Reports in Oncological Medicine", year = "2016", volume = "2016", publisher = "Hindawi Limited", issn = "2090-6706, 2090-6714", doi = "10.1155/2016/5718104", keywords = "alanine aminotransferase; alkaline phosphatase; aspartate aminotransferase; BRCA2 protein; CA 15-3 antigen; capecitabine; carboplatin; carcinoembryonic antigen; denosumab; docetaxel; doxorubicin; epidermal growth factor receptor 2; estrogen receptor; gamma glutamyltransferase; gemcitabine; gonadorelin agonist; hemoglobin; Ki 67 antigen; lactate dehydrogenase; lapatinib; methotrexate; paclitaxel; pertuzumab; progesterone receptor; protein p53; tamoxifen; trastuzumab; zoledronic acid, abdominal pain; adult; alanine aminotransferase blood level; alkaline phosphatase blood level; Article; aspartate aminotransferase blood level; axillary lymph node; bone metastasis; brain disease; brain metastasis; brain radiation; breast adenocarcinoma; breast biopsy; cancer combination chemotherapy; cancer hormone therapy; cancer radiotherapy; cancer recurrence; case report; computer assisted tomography; death; emergency ward; female; gamma glutamyl transferase blood level; gene mutation; gene overexpression; headache; hemoglobin blood level; histopathology; human; human tissue; immunohistochemistry; invasive ductal adenocarcinoma; lactate dehydrogenase blood level; liver metastasis; lumbar puncture; lung metastasis; lymph node metastasis; maintenance chemotherapy; meningeal metastasis; multiple cycle treatment; stereotactic treatment; treatment response", abstract = "Patients with HER2-positive breast cancer and brain metastases have limited treatment options, and, as a result of their poor performance status and worse prognosis, they are underrepresented in clinical trials. Not surprisingly, these patients may not be fit enough to receive any active treatment and are offered supportive therapy. BRCA2 mutations are reported to be rarely associated with HER2-overexpressing advanced breast cancer and even more rarely with brain metastases at diagnosis. We report on a BRCA2-positive breast cancer patient with metastatic disease in multiple sites, including the brain, and poor performance status who exhibited an extraordinary clinical and imaging response to the novel anti-HER2 therapy pertuzumab after multiple lines of therapy including anti-HER2 targeting. To our knowledge, the clinicopathologic and therapeutic characteristics of this patient point to a unique case and an urgent need for further investigation of pertuzumab in patients with brain metastases. © 2016 Anna Koumarianou et al." }