title: Pathological complete response after primary chemotherapy in a mother and daughter with hereditary breast carcinoma: two case reports.
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.
authors.affiliation: Department of Oncology and Radiotherapy, Charles University Medical School & Teaching Hospital, Hradec Králové.
authors.forename: B
authors.initials: B
authors.lastname: Melichar
authors.forename: P
authors.initials: P
authors.lastname: Fridrichová
authors.forename: S
authors.initials: S
authors.lastname: Lukesová
authors.forename: J
authors.initials: J
authors.lastname: Mergancová
authors.forename: H
authors.initials: H
authors.lastname: Urminská
authors.forename: A
authors.initials: A
authors.lastname: Ryska
authors.forename: L
authors.initials: L
authors.lastname: Foretová
mesh_terms: D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use*; D001943:Breast Neoplasms / Q000188:drug therapy* / Q000235:genetics; D002277:Carcinoma / Q000188:drug therapy* / Q000235:genetics; D003520:Cyclophosphamide / Q000627:therapeutic use; D004317:Doxorubicin / Q000627:therapeutic use; D005091:Exons; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D006801:Humans; D009035:Mothers; D009154:Mutation; D009679:Nuclear Family; D017239:Paclitaxel / Q000627:therapeutic use; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D004317:Doxorubicin; D003520:Cyclophosphamide; C111164:BRAP protein, human; D044767:Ubiquitin-Protein Ligases; D017239:Paclitaxel