title: Breast cancer in a male-to-female transsexual patient with a BRCA2 mutation.
abstract: 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 in 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 patient who developed breast cancer after 7 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.
authors.affiliation: Department of EndocrinologyCentre Hospitalier Universitaire de Liege, Université de Liège, Liège, Belgium.
authors.forename: Vinciane
authors.initials: V
authors.lastname: Corman
authors.affiliation: Department of EndocrinologyCentre Hospitalier Universitaire de Liege, Université de Liège, Liège, Belgium.
authors.forename: Iulia
authors.initials: I
authors.lastname: Potorac
authors.affiliation: Faculty of MedicineUniversité de Liège, Liège, Belgium.
authors.forename: Florence
authors.initials: F
authors.lastname: Manto
authors.affiliation: Department of OncologySt Nikolaus-Hospital, Eupen, Belgium.
authors.forename: Sarah
authors.initials: S
authors.lastname: Dassy
authors.affiliation: Department of Human GeneticsCentre Hospitalier Universitaire de Liege, Université de Liège, Liège, Belgium.
authors.forename: Karin
authors.initials: K
authors.lastname: Segers
authors.affiliation: Department of Anatomo-pathologyCentre Hospitalier Universitaire de Liège, Université de Liège, Liège, Belgium.
authors.forename: Albert
authors.initials: A
authors.lastname: Thiry
authors.affiliation: Department of Human GeneticsCentre Hospitalier Universitaire de Liege, Université de Liège, Liège, Belgium.
authors.forename: Vincent
authors.initials: V
authors.lastname: Bours
authors.affiliation: Department of EndocrinologyCentre Hospitalier Universitaire de Liege, Université de Liège, Liège, Belgium.
authors.forename: Adrian F
authors.initials: AF
authors.lastname: Daly
authors.affiliation: Department of EndocrinologyCentre Hospitalier Universitaire de Liege, Université de Liège, Liège, Belgium albert.beckers@chu.ulg.ac.be.
authors.forename: Albert
authors.initials: A
authors.lastname: Beckers
mesh_terms: D000726:Androgen Antagonists / Q000627:therapeutic use*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics* / Q000601:surgery; D002285:Carcinoma, Intraductal, Noninfiltrating / Q000235:genetics* / Q000601:surgery; D017373:Cyproterone Acetate / Q000627:therapeutic use*; D004958:Estradiol / Q000627:therapeutic use*; D004967:Estrogens / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D057829:Gender-Affirming Procedures
chemical_list: D000726:Androgen Antagonists; D024682:BRCA2 Protein; C551750:BRCA2 protein, human; D004967:Estrogens; D017373:Cyproterone Acetate; D004958:Estradiol
keywords: BRCA2; breast cancer; estrogen; transgender