Breast cancer screening for transgender individuals with breast cancer susceptibility genes

Author Department

Hematology/Oncology; Internal Medicine; Medicine

Document Type

Article, Peer-reviewed

Publication Date

4-2025

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

PMID

40421153

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