Case Report

Breast Cancer

, Volume 18, Issue 2, pp 137-140

First online:

Mixed epithelial/mesenchymal metaplastic carcinoma (carcinosarcoma) of the breast in BRCA1 carrier

  • Evgeny N. SuspitsinAffiliated withLaboratory of Molecular Oncology, N.N. Petrov Institute of Oncology
  • , Anna P. SokolenkoAffiliated withLaboratory of Molecular Oncology, N.N. Petrov Institute of Oncology
  • , Dmitry A. VoskresenskiyAffiliated withLaboratory of Molecular Oncology, N.N. Petrov Institute of Oncology
  • , Alexandr O. IvantsovAffiliated withLaboratory of Molecular Oncology, N.N. Petrov Institute of Oncology
  • , Kseniya V. ShelehovaAffiliated withLaboratory of Molecular Oncology, N.N. Petrov Institute of Oncology
  • , Valery F. KlimashevskiyAffiliated withLaboratory of Molecular Oncology, N.N. Petrov Institute of Oncology
  • , Dmitry E. MatskoAffiliated withLaboratory of Molecular Oncology, N.N. Petrov Institute of Oncology
  • , Vladimir F. SemiglazovAffiliated withLaboratory of Molecular Oncology, N.N. Petrov Institute of Oncology
  • , Evgeny N. ImyanitovAffiliated withLaboratory of Molecular Oncology, N.N. Petrov Institute of Oncology Email author 

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Abstract

This case report describes a 35-year-old woman who was diagnosed with mixed epithelial/mesenchymal metaplastic carcinoma (carcinosarcoma) of the breast. Genetic analysis of blood DNA revealed a common founder mutation, BRCA1 5382insC. Examination of microdissected tumor samples determined that both epithelial and mesenchymal components contained deletion of the wild-type BRCA1 allele. This report exemplifies that even very uncommon breast tumor types may develop through biallelic inactivation of BRCA1 gene, that has to be considered in the genetic testing settings.

Keywords

Breast Mixed epithelial/mesenchymal metaplastic carcinoma Carcinosarcoma BRCA1 Loss of heterozygosity Cancer genetics