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Pathological complete response after primary chemotherapy in a mother and daughter with hereditary breast carcinoma: two case reports
B Melichar, P Fridrichova, S Lukesova, J Mergancova, H Urminska, A Ryska, L Foretova
Language English Country Italy
Document type Case Reports
Grant support
NR8392
MZ0
CEP Register
Digital library NLK
Full text - Article
Source
- MeSH
- Cyclophosphamide therapeutic use MeSH
- Gene Deletion MeSH
- Adult MeSH
- Doxorubicin therapeutic use MeSH
- Exons MeSH
- Financing, Organized MeSH
- Genetic Predisposition to Disease MeSH
- Carcinoma drug therapy genetics MeSH
- Humans MeSH
- Mothers MeSH
- Mutation MeSH
- Breast Neoplasms drug therapy genetics MeSH
- Nuclear Family MeSH
- Paclitaxel therapeutic use MeSH
- Antineoplastic Combined Chemotherapy Protocols therapeutic use MeSH
- Ubiquitin-Protein Ligases genetics MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
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.
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- $a Department of Oncology and Radiotherapy, Charles University Medical School & Teaching Hospital, Hradec Kralove.
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- $a 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.
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