IMR Press / EJGO / Volume 29 / Issue 2 / pii/1630995408237-1039495482

European Journal of Gynaecological Oncology (EJGO) is published by IMR Press from Volume 40 Issue 1 (2019). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with S.O.G.

Open Access Case Report
Pathological complete response after primary chemotherapy in a mother and daughter with hereditary breast carcinoma: two case reports
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1 Departments of Oncology and Radiotherapy, Charles University Medical School & Teaching Hospital, Hradec Králové
2 Departments of Medical Genetics, Charles University Medical School & Teaching Hospital, Hradec Králové
3 Departments of Surgery, Charles University Medical School & Teaching Hospital, Hradec Králové
4 Departments of Radiology, Charles University Medical School & Teaching Hospital, Hradec Králové
5 Departments of Pathology, Charles University Medical School & Teaching Hospital, Hradec Králové
6 Department of Cancer Epidemiology & Genetics, Masaryk Memorial Cancer Institute, Brno (Czech Republic)
Eur. J. Gynaecol. Oncol. 2008, 29(2), 188–190;
Published: 10 April 2008
Abstract

The prognosis of patients with BRCA1-related breast carcinomas is inferior to the patients without BRCA1 mutation, but most of these tumors have a so-called triple negative phenotype characterized by increased chemosensitivity. Information regarding the chemosensitivity of BRCA1-related breast carcinomas is limited. We present a case of a mother and daughter with hereditary breast carcinoma treated with primary chemotherapy using the dose-dense combination of doxorubicin and cyclophosphamide and sequential weekly paclitaxel administration. Pathological complete response was observed in both patients. Subsequent genetic analysis revealed the same BRCA1 mutation with exon 5-14 deletion in both women. The present experience as well as other reports indicate increased sensitivity of BRCA1-related breast carcinoma to primary chemotherapy.
Keywords
Hereditary breast carcinoma
BRCA1
Pathological complete response
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