Hormonal and surgical treatment in trans-women with BRCA1 mutations: a controversial topic

Introduction: Male-to-female transgender persons (trans-women) receive livelong cross-sex hormonal treatment in order to induce and maintain secondary female characteristics. One of the concerns of long-term estrogen treatment is the induction of carcinomas of estrogen-sensitive tissues such as the breast. BRCA1 mutations have been shown to account for a large proportion of inherited predispositions to breast cancer.

Aim: The aim of this case report is to discuss the hormonal and surgical options in the treatment of trans-women with a genetic predisposition for breast cancer.

Method: We describe a case of a trans-woman who was found to be a carrier of a BRCA1 mutation.

Results: The patient underwent a breast augmentation. She refused a prophylactic mastectomy followed by a primary breast reconstruction. She also underwent a vaginoplasty and a bilateral castration. Androgen blocking treatment was stopped after surgery; estradiol treatment however was continued.

Conclusions: This case points to the importance of routine investigation of family history in trans-women. Trans-women with BRCA mutations should be carefully monitored and if cancers develop, this should be reported. Follow-up should be according to the guidelines for breast cancer screening in biological women, and the guidelines for prostate cancer and colon cancer screening in men.