Germline BRCA 1 Positive Breast Ovarian Cancer Syndrome

Abstract

Background: BRCA1 (Beast Cancer gene 1) and BRCA2 (Breast Cancer gene 2) are genes that produce proteins that help repair damaged DNA. Mutations in these genes predispose the person to a substantiable risk of developing breast and ovarian cancers among others. Approximately 10 to 15% of all cases of epithelial ovarian cancer and les than 10 % of Breast cancers are caused by a mutation in the BRCA1 or BRCA2 genes, which when occurs together results in hereditary breast ovarian cancer syndrome. Case Presentation: This case report presents the clinical course of a 57-year-old female patient who presented with a mass in her right breast in June 2022. The patient’s past medical history is significant with a diagnosis of triple-negative non-metastatic left breast cancer that was treated with surgery followed by adjuvant chemotherapy containing Doxorubicin and Taxanes with loco-regional radiotherapy in May 2009. On June 2022 (later after 13 years) patient noticed a Rt breast mass and was evaluated further. A mammography showed an ill-defined micro lobulated lesion 4 cm from the nipple, measuring 43 x 27 mm with a few microcalcifications. Later, an ultrasound right breast confirmed the presence of an ill-defined lesion in her right breast with no significant axillary nodes, True-cut biopsy performed on October 26th, 2022 revealed invasive triple negative ductal carcinoma. Staging work up with Positron Emission tomography and computerized tomography scan showed in addition to the right breast mass, an ovarian mass with peritoneal deposits. This prompted a peritoneal biopsy which confirmed a high grade primary serous carcinoma of ovary. Additionally, BRCA1/2 germline testing showed a positive BRCA1 germline mutation. Following this, the patient was started on neoadjuvant keynote 522 protocol specifically with Epirubicin, Cyclophosphamide, Paclitaxel carboplatin with pembrolizumab. As of the date of reporting she has completed CARBOPLATIN-TAXOL and is now on the third ........