BRCA1 Mutation: An Insidious Enemy with Multiple Facets….
(2022) Case Reports in Oncology — Vol. 15, n° 1, p. 238-244 (2022)
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- Abstract
- Epidemiological studies suggest that around 10% of breast cancers are due to hereditary predisposition. The risk of cancer is exponentially increased in patients harboring or mutations. Cumulative breast cancer risk by age 80 is estimated to 72% for mutation carriers and 69% for . The cumulative risk estimates for developing ovarian cancer by age 80 are 44% for mutation carriers and 17% for . We present here the case of a 59-year-old woman who developed a left breast cancer in 2014 treated by conservative surgery, radiotherapy, and endocrine therapy with letrozole. The diagnosis of mutation was performed in 2015. In 2018, the patient was referred to our institution for treatment of an aggressive angiosarcoma developed in the same breast. She had undergone radical hysterectomy by the age of 49 years for a benign uterine pathology. In 2020, she developed a tumor in the gastric wall; histological analysis confirmed a serous papillary carcinoma of ovarian origin. She was treated - after gastrectomy and lymphadenectomy - with 6 courses of carboplatin and paclitaxel followed by olaparib therapy. In 2021, she suffered from a chest recurrence of high grade angiosarcoma. New resection with free margins was performed. We discuss the link between angiosarcomas and BRCA mutations, the therapeutic options for angiosarcoma and ovarian cancer of extra ovarian origin and the follow-up modalities.
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Godin, P., Duhoux, F., Mazzeo, F., Rojas, M., Bollue, E., Francois, A., Galant, C., Coulie, J., Coyette, M., Lentini, A., Deswisen, Y., Perlepe, V., Fellah, L., Leconte, I., & Berlière, M. (2022). BRCA1 Mutation: An Insidious Enemy with Multiple Facets…. Case Reports in Oncology, 15(1), 238-244. https://doi.org/10.1159/000521840 (Original work published 2022)