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

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.

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Publication Details

Journal
Journal of Genetic Counseling
Published
2025-05-02
DOI
https://doi.org/10.1002/jgc4.70003
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
0.00

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article

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

Leah Zaretsky, Joshua D. Safer, Taylor I. Gray
Journal of Genetic Counseling
BRCA gene mutations in cancer
article

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

Leah Zaretsky, Joshua D. Safer, Taylor I. Gray
article en

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.

Journal of Genetic CounselingVol. 34(3)
Medical University of South Carolina (US), MUSC Hollings Cancer Center (US), Icahn School of Medicine at Mount Sinai (US)
Icahn School of Medicine at Mount Sinai
Gender equality
Openalex Percentile: Top 89%
BRCA gene mutations in cancer
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Gender‐affirming chest surgery decisions in response to hypothetical <i>BRCA1/2</i> genetic testing — Leah Zaretsky, Joshua D. Safer, et al. · Journal of Genetic Counseling (2025) | TGRS Research Map | TGRS