In the collective imagination, breast cancer is almost always associated with a particular patient profile. But the clinical reality is much broader and, for years, data on this disease in transgender, non-binary or gender-diverse people have been very scarce. Now, a team from 22 academic centres in the United States has brought together one of the largest published case series to date. The study has been published in JAMA Network Open.
A young and poorly studied population
The researchers reviewed the medical records of 112 gender-diverse people diagnosed with breast cancer between 1990 and 2023. The profile draws attention from the outset: the median age at diagnosis was 42.5 years, far lower than the 62 years seen in the general population. Nine out of ten had been assigned female at birth.
Almost four in ten (38.4%) had received gender-affirming hormone therapy before diagnosis. And one particularly relevant finding: more than half of the patients (51.8%) detected their own tumour through self-examination.
Earlier and hormone-sensitive tumours
Most of the tumours were hormone-sensitive, that is, positive for oestrogen and progesterone receptors, and were diagnosed at early stages. A quarter were ductal carcinoma in situ, the earliest and most treatable form, and almost half were at stage I.
Compared with the general population with breast cancer, this group was younger, more often had progesterone-receptor-positive disease, and reached diagnosis at less advanced stages. Five-year cancer-specific survival was favourable, at around 96%.
Genetics also matters
Another relevant finding is that six in ten patients had a family history of breast cancer, and 14.3% carried a pathogenic germline variant, that is, an inherited genetic alteration that raises cancer risk. This underscores that screening tools and genetic counselling are equally applicable and necessary in this population.
What this means for clinical care
The authors conclude that, although short-term survival appears good, prospective studies are needed to define evidence-based guidelines. Early detection, through self-examination and screening targeting those at elevated risk, emerges as the most promising route to improving prognosis.
The study opens a window onto a subject about which very little was known and serves as a reminder that breast cancer does not understand labels: prevention and genetics must reach all people.
Source
Cohort study published in JAMA Network Open: Characteristics of Gender-Diverse Patients With Breast Cancer. Cortina CS and collaborators. 2026. DOI: 10.1001/jamanetworkopen.2026.24824.
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