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<p>Breast cancer (BC) progression and treatment response are influenced by germline <i>BRCA1/2</i> (<i>gBRCA</i>) variant status. Carrying&#xa0;<i>BRCA1/2</i>&#xa0;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.&#xa0;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 <i>gBRCA</i> variants. Germline pathogenic/likely pathogenic <i>BRCA1/2</i> variants are associated with distinct clinicopathological features, triple-negative breast cancer&#xa0;(TNBC) enrichment, and adverse prognosis. Integrating <i>BRCA1/2</i> testing with immunohistochemical (IHC) biomarkers (including programmed death-ligand 1(PD-L1) in TNBC) may help refine risk stratification and inform individualized therapy.</p>

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Clinicopathological features, immunophenotyping, and immunohistochemical biomarkers associated with germline BRCA1/2 variants in breast cancer: a retrospective cohort of 265 patients

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年6月26日

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  • Feifei Huang,
  • Zhongyi Tong,
  • Yi Jiang

摘要

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.