Sunday, March 27, 2016

Breast Cancer in a Male to Female Transsexual Patient with a BRCA2 Mutation

Breast cancer is rare in male patients. Certain predisposing factors, be they genetic (e.g. BRCA2 gene mutations) or hormonal (imbalance between estrogen and androgen levels) have been implicated in male breast cancer pathophysiology. 

Male to female (MtF) transsexualism is a condition that generally involves cross-sex hormone therapy. Anti-androgens and estrogens are used to mimic the female hormonal environment and induce the cross-sex secondary characteristics. In certain situations, the change of the hormonal milieu can be disadvantageous and favor the development of hormone-dependent pathologies, such as cancer. 

We report a case of a MtF transgender (TG) patient who developed breast cancer after seven years of cross-sex hormonal therapy. The patient was found to be BRCA2 positive, and suffered recurrent disease. The patient was unaware of being a member of an established BRCA2 mutation positive kindred. 

This represents the first case of a BRCA2 mutation predisposing to breast cancer in a MtF transgender patient.

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By:  Corman V1Potorac I2Manto F3Dassy S4Segers K5Thiry A6Bours V7Daly AF8Beckers A9.
  • 1V Corman, Department of Endocrinology, CHU de Liege, Liege, Belgium.
  • 2I Potorac, Department of Endocrinology, CHU de Liege, Liege, 4000, Belgium.
  • 3F Manto, Faculty of Medicine, University of Liege, Liege, Belgium.
  • 4S Dassy, Department of Oncology, St. Nikolaus-Hospital, Eupen, Belgium.
  • 5K Segers, Department of Human Genetics, CHU de Liege, University of Liege, Liege, Belgium.
  • 6A Thiry, Department of Anatomo-pathology, CHU de Liege, Liege, Belgium.
  • 7V Bours, Department of Human Genetics, CHU de Liege, University of Liege, Liege, Belgium.
  • 8A Daly, Department of Endocrinology, University of Liège, Liège, Belgium.
  • 9A Beckers, Department of Endocrinology, Domaine Universitaire du Sart-Tilman, CHU de Liege, Liege, Belgium albert.beckers@chu.ulg.ac.be.
  •  2016 Mar 21. pii: ERC-16-0057




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