Retrospective cohort analyzes gBRCA variants' impact on clinicopathological features and treatment outcomes in breast cancer, suggesting improved risk stratification.
Breast cancer (BC) progression and treatment response are influenced by germline BRCA1/2 ( gBRCA ) variant status. Carrying BRCA1/2 gene variants increases an individual’s risk of developing breast cancer. With the advent of poly ADP-ribose polymerase (PARP) inhibitors, these patients may achieve disease control and effective treatment. However, the clinicopathological characteristics and immunophenotypes associated with this gene in breast cancer remain incompletely understood. A total of 265 patients with invasive breast cancer were retrospectively enrolled and tested for gBRCA variants. Germline pathogenic/likely pathogenic BRCA1/2 variants are associated with distinct clinicopathological features, triple-negative breast cancer (TNBC) enrichment, and adverse prognosis. Integrating BRCA1/2 testing with immunohistochemical (IHC) biomarkers (including programmed death-ligand 1(PD-L1) in TNBC) may help refine risk stratification and inform individualized therapy.
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Huang et al. (2026) studied this question.
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