The influence of hormone therapy and BRCA mutation on development of breast carcinoma in young transgender patients

Document Type

Conference Proceeding

Publication Date

7-8-2025

Publication Title

Ann Surg Oncol

Keywords

Oncology, Surgery

Abstract

Background/Objective: Patients with gender identity disorder as defined by DSM-IV often utilize hormone treatments to reduce symptoms of gender dysphoria. However, the long-term effects of such gender-affirming hormone therapy are not well characterized. In addition, transgender individuals are often excluded from conventional clinical studies and standard screening, which may lead to missed malignancies. Breast cancer in transgender individuals, both female-to-male (FM) and male-to-female (MF), is relatively rare. However, previously rare cancers such as highly invasive breast cancer in individuals under the age of 40 have become more predominant in recent years. In this study, we describe the case of the youngest identified female-to-male transgender patient with breast cancer along with a literature review to assess risk factors for the development of breast cancer in young transgender patients. Methods: We performed a comprehensive literature search to identify cases of transgender patients diagnosed with breast carcinoma from 1968 to 2024, compiling demographic, gender-affirming hormone therapy, histologic, hormone marker, medical treatment, surgical treatment, and recurrence information. Statistical analysis was performed using Fisher’s exact test. Results: We identified 50 cases of transgender patients that met inclusion criteria. Three cases were not able to be included due to lack of access. Of the 47 remaining cases, 25 were FM and 21 were MF. Of the FM patients, 22 (91.7%) underwent hormone therapy with testosterone and 13 (52%) had undergone gender-affirming bilateral mastectomies prior to cancer diagnosis. Of the MF patients, 20 (90.9%) underwent hormone therapy with estrogen. The median age of diagnosis was 47.1 years (range 27 to 77). The median tumor size was 1.95 cm (range 0.16 to 7). Of the 40 patients that underwent surgical intervention, 9 (22.5%) underwent breast-conserving surgery while the remaining 30 (75%) underwent total, modified, or radical mastectomy. Young transgender patients with breast carcinoma, defined by age < 40, were more likely to be BRCA1 positive while older patients were more likely to be BRCA2 positive but this difference was not statistically significant (p=0.43, p=0.11). No significant difference in disease severity was found between patients who received gender-affirming hormone therapy and those who did not (p=0.57). This remained true when comparing patients who received specifically estrogen (p=0.64) or testosterone (p=1.0). Conclusions: Transgender individuals face unique health risks, particularly when undergoing genderaffirming medical or surgical treatments. The subset of transgender patients with breast cancer is small, making research analysis low-powered and challenging. Current screening guidelines from the American College of Radiology are based on limited data in the transgender population, extrapolated from conventional guidelines in cis women, and may miss younger patients. Further investigation is needed to include these patients in the preventative care process to decrease disease morbidity and lessen barriers to care.

Volume

32

First Page

828

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