Breast cancer screening for transgender individuals with breast cancer susceptibility genes
Review Article

Breast cancer screening for transgender individuals with breast cancer susceptibility genes

Kamelah Abushalha1, Andrew Ng2, Soumya Pulipati1, Prarthna V. Bhardwaj1

1Division of Hematology-Oncology, University of Massachusetts Chan Medical School-Baystate, Springfield, MA, USA; 2Department of Internal Medicine, University of Massachusetts Chan Medical School-Baystate, Springfield, MA, USA

Contributions: (I) Conception and design: K Abushalha, PV Bhardwaj; (II) Administrative support: None; (III) Provision of study materials or patients: None; (IV) Collection and assembly of data: None; (V) Data analysis and interpretation: None; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors.

Correspondence to: Prarthna V. Bhardwaj, MD, FACP. Assistant Professor of Medicine, Division of Hematology-Oncology, University of Massachusetts Chan Medical School-Baystate, 376 Birnie Ave, Springfield, MA 01107, USA. Email: Prarthnabhardwaj@gmail.com.

Abstract: Transgender individuals represent a growing and very heterogeneous population, yet there are no precise estimates of their breast cancer risk and equitable breast cancer screening guidelines. They have lower rates of healthcare utilization and face disproportionate discrimination in comparison to cisgender individuals. Unfortunately, most national databases continue to report binary gender. Gender affirming hormone therapy (GAHT), surgical history, and psychosocial factors may complicate risk stratification and breast cancer screening decisions. Those with genetic predisposition to cancer, specifically breast cancer susceptibility genes like BRCA1 and BRCA2, face yet another challenge in terms of counselling and screening, given they constitute a rare subgroup. While BRCA pathogenic variants significantly elevate lifetime breast cancer risk in cisgender individuals, evidence-based guidelines for transgender people—specifically those undergoing GAHT or surgical interventions—remain limited. Hence, transgender individuals need to consider a cancer risk assessment before proceeding with gender affirming medical and surgical treatments if they also harbor a breast cancer susceptibility gene. This review article highlights the role of gender affirming treatment and its implications for breast cancer and the recommended optimal screening in transgender individuals with breast cancer susceptibility genes. We emphasize the need for individualized, culturally competent care and advocate for inclusive clinical guidelines accounting for genetic risk as well as gender identity.

Keywords: Transgender; breast cancer; BRCA1; BRCA2; breast cancer susceptibility genes

Received: 16 December 2024; Accepted: 23 April 2025; Published online: 27 April 2025.

doi: 10.21037/tbcr-24-68

Introduction

A transgender individual is one whose gender identity is incongruent with their assigned sex at birth. Gender identity, in turn, is defined as the personal perception of self and how one fits in the world from a gender perspective (1). Approximately 0.6% of the United States population, or about 1.6 million people, openly identify as transgender or gender diverse, of whom 1.3 million are adults (2). Globally, the prevalence is 9.2 per 100,000 people (2). There is growing evidence that those identifying as transgender are increasing in number among Millennials (born between 1981–1996) and Gen Z (born between 1997–2012), likely due to shifting societal acceptance (3).

Transgender people may identify as transgender woman, transgender man, or gender non-binary, as delineated in Table 1.

Table 1

Common gender related terminologies and definitions

Terms Definitions
Sex Biological characteristics based on genes and anatomical structure assigned at birth
Gender Personal perception of self and how they fit in the world from a gender perspective
Transgender man A person who identifies as a man but was assigned female sex at birth
Transgender woman A person who identifies as a woman but was assigned male sex at birth
Cisgender man A person who identifies as a man and was assigned male sex at birth
Cisgender woman A person who identifies as a woman and was assigned female sex at birth
Gender non-binary Doesn’t conform to a traditional binary gender identity

Cancer is the second leading cause of death among transgender individuals, after diseases of the circulatory system (4). Yet, this group faces disparities in cancer screening, including discrimination and stigma when seeking care, limited knowledge among providers about optimal screening strategies specific for transgender individuals, lack of tailored screening guidelines, and heterogeneity among this group due to differing gender-affirming interventions, thus placing them at different levels of cancer risk (5-8).

Breast cancer is one of the few cancers heavily influenced by sex. Although regarded as a female-predominant cancer, it does occur in cisgender men with an incidence of less than 1% (9). Furthermore, breast cancer may also occur in transgender individuals; this risk may be variable based on uptake of gender-affirming hormone treatment and gender-affirming surgery. Additional factors, including lack of healthcare access, higher rates of tobacco and alcohol use, as well as lower rates of cancer screening, can further exacerbate breast cancer risk. Genetic predisposition to cancer, including harboring breast cancer susceptibility genetic variants like BRCA1 and BRCA2, adds yet another layer of complexity. Hence, adequate counseling and information about the risk of cancer are required to make informed decisions about optimal screening strategies and gender-affirming interventions (10). Unfortunately, limited data on this topic constitutes a significant research gap.

In this review article, we will discuss gender-affirming therapies and their impact on breast cancer risk and the care of transgender individuals who are carriers of breast cancer susceptibility genes BRCA1 and BRCA2 (BRCA1/2), with a specific focus on breast cancers. Although this review focuses on transgender patients, gender-non-conforming individuals who utilize gender-affirming treatments may benefit from similar recommendations.

Gender-affirming treatments

Several transgender individuals choose to receive gender-affirming therapies like hormonal treatment and surgical interventions to mitigate gender incongruence (11-13). It has been associated with a lower rate of depression and suicidal tendencies, as well as creating a stronger sense of belonging in society following these therapies (14). Gender affirming hormone therapy (GAHT) remains the cornerstone of gender affirming therapy (15). However, prolonged use of hormone therapy has been previously implicated in modulating the risk of breast cancer, specifically hormone-positive type in cisgender people. This underscores the need for baseline breast cancer risk assessment to determine optimal screening strategies. Furthermore, transgender people with breast cancer susceptibility genes may need more extensive counseling on optimal gender affirming therapies in the context of their heightened breast cancer risk to begin with. In subsequent sections, we will highlight the commonly utilized medical and surgical gender affirming strategies among trans people and the available data regarding breast cancer risk.

Transgender women

The goal of GAHT is to align physical and psychological features with a feminine phenotype. Transwomen seeking feminization are usually treated with estrogen therapy with or without androgen suppression (15). Recommended dosages of exogenous estrogen are greater than those used in postmenopausal cisgender women for vasomotor symptoms (15). The use of progesterone is controversial since its role in breast growth is not proven, but it may be used to enhance libido and mood. Furthermore, most transgender women choose to undergo breast augmentation surgery (16). While there has been data showing the increased risk of breast cancer from estrogen therapy as part of menopausal hormone therapy, the data analyzing estrogen’s relationship to breast cancer in GAHT is controversial and predominantly extrapolated from studies of cisgender women receiving hormone replacement therapy (17-19). The key mechanisms contributing to this risk include prolonged exposure to exogenous estrogens, tissue remodeling and epithelial proliferation, as well as a potential increase in breast density that is independently associated with a higher risk of breast cancer (20,21).

Transgender men

Transgender men typically receive exogenous testosterone supplementation as a form of masculinization therapy (22). Nearly 60% of transgender men are interested in surgical procedures like chest or top surgery (10). A risk-reducing mastectomy (RRM) removes over 95% of the breast tissue, while top surgery may often retain some breast tissue with the goal of enhanced cosmesis (23). Hence, top surgery does not always equate to RRM.

Although hysterectomy is endorsed by the American College of Obstetricians and Gynecologists for those with gender dysphoria (24), less than a fifth of transgender men undergo this procedure (25). Bilateral oophorectomy may decrease the risk of breast cancer due to decreasing endogenous estrogen exposure.

However, the role of oophorectomy remains controversial due to its long-term impact on cardiovascular health, especially in conjunction with testosterone use, and has a lower uptake (19).

Risk of breast and gynecologic cancer associated with gender-affirming treatments

Large-scale data regarding the risk of breast cancer among transgender people is limited. A systematic review reported a lower median age at diagnosis of breast cancer in transgender women compared to cisgender men (51.5 versus 68 years) (26). Of those diagnosed with breast cancer, the majority usually reported estrogen use, although the numbers were relatively small numerically. A Dutch cohort study demonstrated a 46-fold increase in the incidence of breast cancer among transgender women compared to cisgender men (18). Contrarily, another Dutch study using the same database did not show any differences in the incidence of breast cancer among transgender women and cisgender men (27). This difference may be attributed to a shorter duration of exogenous estrogen exposure. Furthermore, an American cohort study found similar incidences of breast cancer between transgender women and cisgender men, congruent with Gooren et al. (28). However, the three identified cases of breast cancer were not documented to be using GAHT, and only 31% of their transgender women cohort had been prescribed estrogen (28). Finally, a meta-analysis investigating cases of breast cancer in transgender individuals did show a higher incidence compared to cisgender men but lower than cisgender women. Interestingly, this study did not demonstrate any association between breast cancer risk and estrogen exposure (29). Therefore, the current literature presents an unclear picture of the risk of breast cancer from GAHT in transgender women; however, the consensus is that their risk may be higher than that of cisgender men.

With regards to breast cancer in transgender men, the median age at diagnosis based on a systematic review was lower compared to cisgender women (44.5 versus 62 years) (30). However, the incidence of breast cancer was lower than that of matched cisgender women in 2 out of 3 cohort studies (18,27). Notably, the incidence was noted to be 50-fold higher compared to cisgender men (18). Brown et al. showed no difference in the incidence of breast cancer between transgender men and cisgender women in the United States, but it was higher in transgender men than cisgender men (28). Finally, a meta-analysis by Corso et al. was consistent with previous findings showing transgender men have a reduced incidence of breast cancer compared to cisgender women, but have a higher incidence when compared to cisgender men (29). This finding could be attributed to breast reduction surgeries and mastectomies performed as part of gender-affirming surgery.

Data regarding gynecologic cancers among transgender men are limited to case reports; however, use of androgens is thought to reduce endometrial proliferation and ovulation, thereby reducing the risk of gynecologic cancers (10).

Breast cancer susceptibility genes, genetic testing, and implications on gender-affirming treatment

An estimated 5–10% of female breast cancer diagnoses and about 5–20% of male breast cancer diagnoses harbor a pathogenic or likely pathogenic variant in the tumor suppressor genes, BRCA1/2 (5). The absolute risk of developing primary breast cancer in cisgender women with BRCA1 is 60–72%, and the risk in those with BRCA2 is 55–69% (23,31,32). In addition, the absolute risk of breast cancer in cisgender men by the age of 70 years is 0.2–1.2% for BRCA1 and 1.8–7.1% for BRCA2 (23,33-35). Several other genes have been implicated in the predisposition to breast cancer, including ATM, BARD1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, and TP53 (23).

Guidelines for screening and management for cisgender people with hereditary breast cancer susceptibility genes exist (23). Despite global differences in guidelines, there is a general agreement on the importance of heightened cancer screening and genetic counseling. However, similar guidelines for transgender individuals with hereditary breast cancer susceptibility genes are lacking due to a lack of robust data (36-39). Reviewing the few published case reports helps us understand the unique challenges patients and healthcare providers encounter in managing this unique population. Individuals who have not opted for gender-affirming therapies should undergo surveillance and screening like their cisgender counterparts (10,40).

It is recommended that transgender individuals undergo a lifetime risk assessment for cancer development before pursuing gender-affirming interventions to help them make an informed decision (41,42). The risk of developing breast cancer is multi-factorial based on personal and family history of cancer, type of genetic pathogenic variant, age of patient, duration and dosage of hormone treatment, surgical interventions, and other environmental factors. This risk assessment should be repeated, as necessary. Although the use of GAHT needs to be carefully considered among male-to-female transitions who also harbor a breast cancer susceptibility gene, those undergoing female-to-male transitions should consider undergoing RRM rather than breast reduction or top surgery to reduce their risk of breast cancer maximally (41).

A unique challenge that one may encounter is genetic testing for minors who identify as transgender. There are reported cases of minors being seen in the genetic clinic for germline genetic testing (36). Although genetic testing is typically deferred until adulthood, unless there is a beneficial therapeutic intervention (10,43), a case-by-case approach with appropriate counseling regarding patient-specific risk is paramount. Such individuals also benefit from multidisciplinary care involving their primary care provider, genetic counselor, mental health provider, surgeon, and endocrinologist (36).

Finally, knowledge of carrier status may affect insurance coverage for gender-affirming therapy. Traditionally, health insurance has denied insurance coverage for gender transitions and transgender care, although there has been a shift in recent times. However, prophylactic management for cancer is typically covered (10). Hence, having a known BRCA1/2 pathogenic variant could facilitate coverage for RRM if this aligns with gender-affirming goals. This motivates several individuals to consider genetic testing, especially if they have a strong family history (37).

Optimal breast cancer screening recommendations for transgender BRCA1/2 carriers

Transgender people who have not undergone gender-affirming intervention should follow guidelines for the individual’s assigned sex at birth (10). If the patient has a gender-affirming intervention (hormone treatment or surgery), the risk should be individualized based on the type of therapies received. Transgender men with breast cancer susceptibility genes who have undergone top surgery but not RRM should consider breast imaging based on the estimated amount of breast tissue, while annual physical examinations are deemed adequate for those who have undergone an RRM. For transgender women with RRM, physical yearly examinations suffice. On the other hand, those with intact breast tissue and GAHT should consider annual mammograms or MRI starting at 40 years or 5–10 years after initiating hormone therapy. Table 2 outlines the suggested guidelines for breast cancer screening for transgender individuals.

Table 2

Suggested recommendations for breast cancer screening in transgender individuals

Recommendations for transgender men with breast cancer susceptibility genes:
   Consider RRM or nipple sparing surgery rather than top surgery
   If RRM was performed, begin annual chest exam starting at 35 years (10). Any breast imaging in this setting is inappropriate (40)
   With intact breast or following top surgery, consider breast mammograms and MRIs. The age to initiate screening is gene-specific and is provided in the GENE-A section of the NCCN guidelines (23)
   Without surgery or reduction mammoplasty, recommend screening with MRI starting from 25–30 years of age and mammograms beginning at 30 years of age. Ultrasound of the breast in this setting may be appropriate (40)
Recommendations for transgender women with breast cancer susceptibility genes:
   Yearly clinical examination only for those who have already undergone an RRM (10)
   If intact breast tissue without GAHT, screening is similar to cisgender men who are BRCA1/2 carriers. Consider age, family history, and the amount of breast tissue present (10,23)
   If intact breast tissue and receiving GAHT, consider screening with digital mammography or digital breast tomosynthesis. Based on age at transition, duration of GAHT, family history, and amount of breast tissue (40)
   MRI without contrast is usually used for those with implant reconstruction and is typically done to assess implant integrity, and would not detect cancer in those with RRM (23)

GAHT, gender affirming hormone therapy; MRI, magnetic resonance imaging; NCCN, National Comprehensive Cancer Network; RRM, risk-reducing mastectomy.

Despite being offered appropriate counseling and prophylactic treatment options, less than a third of transgender individuals with cancer susceptibility genes undergo appropriate and recommended screening (5). This may be attributed to a lack of professional expertise among healthcare providers, and hesitancy on the part of transgender individuals to seek early care stemming from perceptions of discrimination and disrespect (44).

Conclusions

Shifting societal attitudes towards increasing acceptance of transgender people has now resulted in more people identifying as transgender openly, resulting in higher uptake of gender affirming therapies. Therefore, healthcare providers should strive to familiarize themselves with the healthcare needs of the transgender population. We recommend that all transgender individuals with breast cancer susceptibility genes receive personalized assessment for their breast cancer risk and appropriate genetic counseling in a multidisciplinary team to help them make an informed decision regarding gender-affirming therapies and undergo appropriate screening. More inclusive criteria in breast cancer screening, along with education for both healthcare providers and patients, is paramount. Screening criteria should be tailored to individual risk, personal preferences, and the type of gender-affirming therapies being used. In addition, prospective studies with long-term follow-up of these patients are necessary to fill our knowledge gap, especially regarding cancer risks associated with gender-affirming treatment. Finally, with the increasing visibility of the transgender population, we must adopt more inclusive frameworks in medicine to avoid further alienating this cohort.

Acknowledgments

None.

Footnote

Peer Review File: Available at https://tbcr.amegroups.com/article/view/10.21037/tbcr-24-68/prf

Funding: None.

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://tbcr.amegroups.com/article/view/10.21037/tbcr-24-68/coif). P.V.B. has stock options with Doximity. The other authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

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doi: 10.21037/tbcr-24-68
Cite this article as: Abushalha K, Ng A, Pulipati S, Bhardwaj PV. Breast cancer screening for transgender individuals with breast cancer susceptibility genes. Transl Breast Cancer Res 2025;6:16.

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