Article: Breast cancer risk for transgender men with inherited mutations

Contents

ARTICLE AT A GLANCE

What is this article about?

This article is about the lack of information and guidelines for trans men and non-binary people with inherited mutations in BRCA1 and BRCA2 who have bilateral mastectomies as part of their gender-affirming care.

Why is this article important?

Like many other marginalized populations, LGBTQIA+ people face health disparities and are often overlooked when it comes to health care and research about medical conditions, and trans, nonbinary, and gender expansive people often face even higher health disparities. There are an estimated 1.5 million transgender people in the United States, and little information related to the cancer risk and cancer care in this community is available. This is especially true for people who have an inherited mutation that increases their risk of breast cancer. Little to no research has led to a lack of guidelines to help trans people make medical decisions related to their cancer risk. The authors of this article discuss medical decisions related to breast cancer risk for transgender men with a BRCA1 or BRCA2 mutation.

Breast cancer risk in transgender men with a BRCA mutation

For people with a BRCA mutation who are assigned female at birth, including transmasculine people, the lifetime risk for breast cancer is very high, between 50 to 75 percent. This is significantly higher than the 12 to 13 percent lifetime risk in the general female population.

Many transgender men and nonbinary people who were assigned female at birth may undergo “top surgery”—mastectomy to remove breast tissue—as part of their gender-affirming care. Several types of top surgeries are available based on breast size and personal preference. The amount of residual breast tissue varies based on different gender-affirming mastectomy techniques. For example, a subcutaneous mastectomy, which preserves more breast tissue than would be removed during a risk-reducing mastectomy, provides the most natural-looking masculine chest.

The article emphasizes that for transgender men with a BRCA1, BRCA2 or other mutation that significantly increases breast cancer risk, standard top surgery will likely leave residual breast tissue. Having residual tissue and its associated cancer risk, however, may be unacceptable. Regardless of type of surgery, all mastectomy specimens should be submitted for pathologic evaluation.

The authors also noted the lack of information on how and when to screen at-risk transmasculine patients if they choose surgery that leaves breast tissue. Some studies have concluded that screening isn’t necessary, but these studies were based on a limited number of transgender men, most of whom did not have an inherited risk for cancer.

Hormone therapy used as part of gender-affirming treatment may also affect breast cancer risk in people with inherited mutations, although the exact effects on risk are unclear.

Breast imaging before and after surgery

There is a lack of data regarding the best way to manage breast cancer risk for at-risk trans men before or after they have top surgery.

Breast tumors that are discovered before a mastectomy can be removed more precisely. A pre-surgical mammogram for those with a family history or genetic predisposition is standard of care. Genetic testing before top surgery to determine whether a complete prophylactic mastectomy should be considered, but there are currently no guidelines on this aspect of care.

For post-surgical screening, the efficacy of the screening depends on whether there is enough breast tissue for a mammogram or if other screening methods (e.g., MRI or ultrasound) would be better suited to the patient.

What does this mean for me?

Transgender men and nonbinary people assigned female at birth who have an increased risk of breast cancer due to an inherited mutation should discuss screening and risk reduction with their health care providers as early in their transition as possible. Those who do not know their genetic risk profile but who have a family history of breast cancer should consider genetic testing before they undergo any surgery or gender-affirming hormonal therapy. Depending on the results, pre-surgical screening may be a good idea.

The frequency and type of post-transition screening will depend on your age, the amount of breast tissue you have after surgery, and the hormone treatments you choose going forward.  It is important to discuss your risk and screening recommendations with your healthcare providers based on the amount of residual breast tissue.

References

Jaber C, Ralph O, Hamidian Jahromi A. BRCA Mutations and the Implications in Transgender Individuals Undergoing Top Surgery: An Operative Dilemma. Plast Reconstr Surg Glob Open. 2022; 10(1). ePublished 2022 Jan 10.

Salibian A, Axelrod D, Smith J, et al. Oncologic Considerations for Safe Gender-Affirming Mastectomy: Preoperative Imaging, Pathologic Evaluation, Counseling, and Long-Term Screening. Plast Reconstr Surg. 2021; 147(2):213e-221e.

Fledderus AC, Gout HA, Ogilvie AC, et al.  Breast malignancy in female-to-male transsexuals: systematic review, case report, and recommendations for screening. Breast. 2020; 53:92–100.

de Blok CJM, Wiepjes C M, Nota N M, et al. Breast cancer risk in transgender people receiving hormone treatment: a nationwide cohort study in the Netherlands. BMJ 2019; 365: l1652.

Please note:  Some references may not include affirming language.

Disclosure: FORCE receives funding from industry sponsors, including companies that manufacture cancer drugs, tests and devices. All XRAYS articles are written independently of any sponsor and are reviewed by members of our Scientific Advisory Board before publication to assure scientific integrity.

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posted 5/19/22