What question did this study set out to answer?

This research aims to examine surgical outcomes of breast cancer patients with BRCA1/2 variants and variants of uncertain significance (VUS).

February 16, 2026Open Access

Breast cancer surgery in the era of genetic uncertainty: real-world outcomes in BRCA1/2 pathogenic variants and variants of uncertain significance

Key Points

This research aims to examine surgical outcomes of breast cancer patients with BRCA1/2 variants and variants of uncertain significance (VUS).
Analysis of surgical decision-making in breast cancer patients with pathogenic BRCA1/2 variants and VUS.
Comparison of influences on decisions, specifically focusing on age and tumor biology.
Evaluation of the association between BRCA variant types and surgical choices.
Pathogenic BRCA1/2 variants are linked to higher rates of bilateral mastectomy.
Surgical choices among VUS carriers are less influenced by tumor biology and more by patient age.
Variability in treatment decisions indicates potential overtreatment in VUS carriers.

Abstract

While pathogenic BRCA1/2 variants are strongly associated with bilateral mastectomy in breast cancer patients, surgical decision-making among VUS carriers appears largely independent of tumor biology or genetic subtype and is primarily influenced by age. These findings highlight substantial heterogeneity and potential overtreatment in the management of BRCA VUS carriers, underscoring the need for improved genetic counseling and standardized approaches to mitigate the impact of genetic uncertainty on clinical decision-making.

Breast cancer surgery in the era of genetic uncertainty: real-world outcomes in BRCA1/2 pathogenic variants and variants of uncertain significance

Key Points

Abstract

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