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Article Abstract
Background: Assessment of germline (g) status is recommended for all patients with HER2-negative metastatic breast cancer (MBC) to identify candidates for poly(ADP-ribose) polymerase (PARP) inhibitor therapy, which is not always possible in clinical practice due to limited testing resources. In this study, we investigate the cross-sectional prevalence of g pathogenic variant (PV) carriers in unselected Korean patients with HER2-negative MBC.
Methods: Patients diagnosed with HER2-negative metastatic BC receiving palliative systemic treatment were eligible for inclusion in the study. Peripheral blood was prospectively drawn from each patient and g status was assessed by next-generation sequencing using an NGeneBio BRCAaccuTest.
Findings: A total of 586 patients were enrolled between October 2019 and March 2022, and the prevalence of g PV was analyzed in 570 patients. The median age at enrollment was 54 years (interquartile range, 48-61) and 567 patients were female. Among the 570 patients with g analysis, 481 had hormone receptor-positive/HER2-negative breast cancer (BC) and 89 had triple-negative breast cancer (TNBC). The overall prevalence of g PV carriers was 7.4% (42/570, 95% confidence interval (CI) 5.4%-9.8%) in unselected patients with HER2-negative MBC [g, 1.8% (95% CI 0.8%-3.2%), 10/570; g, 5.6%(95% CI % - 7.8%), 32/570]. The overall prevalence of g PV carriers in Korean patients with HER2-negative MBC and a low risk of hereditary breast ovarian cancer syndrome (HBOC) was 5.7% [19/332, 95% confidence interval 3.5%-8.8%; TNBC 10.5% (95% CI 1.3%-33.1%), 5.4%(95% CI 3.2%-8.6%), 17/313].
Interpretation: Our study measured the size of the current underestimation of g PV carriers in unselected Korean patients with HER2-negative MBC, particularly in patients without high risk factors for HBOC. An active screening strategy for unselected HER2-negative MBC should be pursued to avoid missing potential candidates for systemic treatment with PARP inhibitors.
Funding: Pfizer.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12272606 | PMC |
| http://dx.doi.org/10.1016/j.lanwpc.2025.101622 | DOI Listing |
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