Abstract :
[en] 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 hormonedependent
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.
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