Work

Gender‐affirming chest surgery decisions in response to hypothetical BRCA1/2 genetic testing

Year: 2025

Type: article

Abstract: To align their bodies with gender identity, transgender and gender-diverse individuals may elect to undergo gender-affirming chest masculinization or feminization, which is different from the standard mastectomy recommended to those with BRCA1/2 pathogenic variants. This study aimed to determine if genetic testing revealing a pathogenic variant associated with a significantly higher lifetime risk of breast cancer would influence decisions regarding chest surgery type. The investigators hypothesized that BRCA1/2 pathogenic variant carrier status would influence gender-diverse individuals to elect a more invasive surgery to address increased cancer risk. Of 26 transgender and gender-diverse individuals without a history of chest surgery, 23.1% stated they would likely elect a more invasive surgery type based on positive genetic testing results while, of 17 individuals with a previous history of chest reconstruction, 52.9% stated it was unlikely that genetic testing would have altered their surgical decision-making. These results suggest that health care providers should counsel transgender patients about the utility of genetic testing prior to gender-affirming chest reconstruction.

Source: Journal of Genetic Counseling

DOI: 10.1002/jgc4.70003

Authors: Taylor I. Gray, Joshua D. Safer, Leah Zaretsky

Institutions: Medical University of South Carolina, MUSC Hollings Cancer Center, Icahn School of Medicine at Mount Sinai

Language: English

Topic: BRCA gene mutations in cancer

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDGs: Good health and well-being, Reduced inequalities

Open Access status: bronze

Funder: Icahn School of Medicine at Mount Sinai