Breast cancer screening guidance falls short in gender-diverse patients. Is your workflow due for a major update?

By Alpana Mohta, MD, DNB, FEADV, FIADVL, IFAADFact-checked by Davi ShermanPublished August 12, 2026

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This information tells us that there are clear breast cancer treatment and outcome disparities in the [transgender] population and that there is much opportunity to improve outcomes through evidence-based gender-specific screening and treatment guidelines.

—Chandler Cortina, MD

Breast cancer remains one of the world’s most common cancers, with an estimated 2.3 million new cases and 670,000 deaths globally in 2022.^[]

Yet for transgender, nonbinary, and gender-diverse patients, determining who should be screened and how can be considerably more complicated than applying a sex-based screening guideline.

A new multicenter cohort of patients with breast cancer offers a detailed look at how these cancers are being detected in the “transgender, nonbinary, and/or gender diverse (TGD)” population, the inherited risks these patients may carry, and what can happen when gender-affirming surgery intersects with breast cancer risk.^[]

What the cohort found

The JAMA Network Open study included 112 TGD patients with 113 breast cancers treated at 22 US academic centers between 1990 and 2023.^[]

The median age at diagnosis was 42.5 years. Most patients—92.9%—were assigned female at birth. The most frequently documented identities were nonbinary, transgender man or man, and genderqueer.

Self-examination or symptoms led to diagnosis in 51.8% of patients. Screening mammography detected 27.7%. Another 13.4% were diagnosed incidentally from tissue removed during gender-affirming chest masculinization surgery.

Only 51.8% had undergone screening mammography within the 10 years prior to their diagnosis.

Inherited risk factors were:

A family history of breast cancer was documented in 60.7%.
Among 84 patients who underwent germline testing, 16 (19%) carried a pathogenic variant.
BRCA1 and BRCA2 were the most frequent gene mutations.

Shiv Kumar Goel, MD, a board-certified internist who works with a substantial LGBTQ+ patient population, argues that genetic risk assessment should occur before chest masculinization surgery. A pathogenic BRCA1 or BRCA2 finding, he notes, could change the surgical approach from a gender-affirming mastectomy to risk-reducing surgery.

Treatment planning

Most tumors were hormone receptor-positive and early stage. Of 96 patients with hormone receptor-positive disease, 37 had received gender-affirming hormone therapy.^[]

Seventeen continued or started gender-affirming hormones after their cancer diagnosis. Only 9 of those 17 also received endocrine therapy.

“Side effects of endocrine treatment can conflict with the goals of gender affirmation and thus present unique challenges that are not necessarily addressed in the current clinical environment. For instance, a patient who underwent years of treatment for gender affirmation may now have to weigh the benefits of tamoxifen against their current goals,” Dr. Goel says.

Treatment disparities

In a 2025 JAMA Oncology analysis, TGD patients with hormone receptor-positive breast cancer were 50% less likely to receive endocrine therapy compared with matched cisgender patients.^[] They were 80% less likely to undergo postmastectomy breast reconstruction.

“This information tells us that there are clear breast cancer treatment and outcome disparities in the [transgender] population and that there is much opportunity to improve outcomes through evidence-based gender-specific screening and treatment guidelines,” study author Chandler Cortina, MD, told AuntMinnie.^[]

“[TGD patients] are not necessarily offered reconstruction after mastectomy for the same reason that screening and preventive surgery are not offered to gender-diverse patients—ie, because we assume they wouldn’t want it and thus are never offered,” Dr. Goel adds.

He points to discontinuity of care, breast centers being “coded and decorated as women’s spaces,” and insurance denials related to gender-marker mismatches as additional contributors.

Chest masculinization is not mastectomy

“I had top surgery (periareolar) and wondered if that meant I had no breast tissue, or if top surgery still does leave breast tissue, and thus the possibility of breast cancer,” Reddit user @blakeol posted in an r/ftm thread.

There is a common misconception that chest masculinization is mastectomy and removes all breast tissue, therefore obviating the risk of breast cancer in the future. But as Frank Agullo, MD, FACS, a board-certified plastic surgeon, specifies, “Chest masculinization significantly reduces the risk of breast cancer. It is not a mastectomy. Some breast tissue (around 5%) is left behind. These patients can still develop breast cancer later on. Screening should continue, but it changes. Imaging is often not indicated. Rather, annual chest exams and self-chest exams are the norm.”

“Genetic risk assessment is done during the initial consultation before [gender affirming] surgery. A BRCA carrier needs a risk-reducing mastectomy instead of the standard top surgery. Doing a risk assessment after surgery removes choices and decisions,” he adds.

Screening

Over 13% of cancers being discovered incidentally in tissue removed during chest masculinization surgery reinforces the importance of pathological examination of excised tissue.^[]

“I send all breast specimens from chest masculinization and breast reductions to pathology. The results can alert us [to] any disease or increased risk for cancer,” Dr. Agullo shares.

Aneeqah Din Muhammad, MD, a general and breast surgeon, similarly emphasizes that residual tissue after masculinizing surgery can remain at risk and that screening decisions should incorporate family history and genetic risk. “It is suggested that individuals who have been on hormone replacement therapy for prolonged durations (more than 5 years) should be enrolled into breast screening programs, as these hormones elevate the risk of breast cancer,” she says.

Survival rates

Five-year breast cancer-specific survival in the new cohort study was 96.2%, although median follow-up was only 38 months. Two people developed distant recurrence and died from metastatic disease.^[]

Workflow update

Dr. Goel recommends separating anatomic screening requirements from gender identity and sex assigned at birth within the electronic health record.

He also identifies billing and ordering systems as potential barriers. “Right now, for example, the studies for a trans man with retained breast tissue are automatically denied for billing purposes because of the difference between the sex of the coded studies and the gender marker of the patient’s chart,” he says.

Survivorship planning should address when and how gender-affirming hormone therapy can resume after cancer treatment, Dr. Goel says, noting that some patients may otherwise “stop going to follow-up care with their PCP because they are left to figure out this issue on their own.”

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