Pathological complete response after primary chemotherapy in a mother and daughter with hereditary breast carcinoma: two case reports

Eur J Gynaecol Oncol. 2008;29(2):188-90.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use*
  • Breast Neoplasms / drug therapy*
  • Breast Neoplasms / genetics
  • Carcinoma / drug therapy*
  • Carcinoma / genetics
  • Cyclophosphamide / therapeutic use
  • Doxorubicin / therapeutic use
  • Exons
  • Female
  • Gene Deletion
  • Genetic Predisposition to Disease
  • Humans
  • Mothers
  • Mutation
  • Nuclear Family
  • Paclitaxel / therapeutic use
  • Ubiquitin-Protein Ligases / genetics*

Substances

  • Doxorubicin
  • Cyclophosphamide
  • BRAP protein, human
  • Ubiquitin-Protein Ligases
  • Paclitaxel