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

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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.

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Acknowledgments

This work was supported by INTAS (grant 05-1000008-7870), Russian Agency for Science and Innovations (grant 02.512.11.2101), Russian Federation for Basic Research (grant 07-04-00172-a) and a grant for the Helmholtz-Russia Joint Research Groups (grant HRJRG-006/07-04-92282-a).

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Authors and Affiliations

  1. Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology, Pesochny-2, 197758, St. Petersburg, Russia

    Evgeny N. Suspitsin, Anna P. Sokolenko, Dmitry A. Voskresenskiy, Alexandr O. Ivantsov, Kseniya V. Shelehova, Valery F. Klimashevskiy, Dmitry E. Matsko, Vladimir F. Semiglazov & Evgeny N. Imyanitov

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  1. Evgeny N. Suspitsin
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  2. Anna P. Sokolenko
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  3. Dmitry A. Voskresenskiy
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  4. Alexandr O. Ivantsov
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  5. Kseniya V. Shelehova
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  6. Valery F. Klimashevskiy
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  7. Dmitry E. Matsko
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  8. Vladimir F. Semiglazov
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  9. Evgeny N. Imyanitov
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Correspondence to Evgeny N. Imyanitov.

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Suspitsin, E.N., Sokolenko, A.P., Voskresenskiy, D.A. et al. Mixed epithelial/mesenchymal metaplastic carcinoma (carcinosarcoma) of the breast in BRCA1 carrier. Breast Cancer 18, 137–140 (2011). https://doi.org/10.1007/s12282-009-0105-0

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  • DOI: https://doi.org/10.1007/s12282-009-0105-0

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