ArticleBMC cancer2026
Prevalence of recurrent and non-recurrent BRCA1 and BRCA2 pathogenic variants in Polish breast cancer patients: insights from a regional genetic testing cohort from Lower Silesia.
Article in BMC cancer, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundThe prevalence and spectrum of pathogenic and likely pathogenic variants (PVs/LPVs) in BRCA1/2 vary across populations, necessitating region-specific analyses to identify recurrent and non-recurrent variants and to evaluate the effectiveness of current diagnostic strategies. Published experience remains dominated by North American and West-European or Nordic cohorts. To address this gap, we present the first comprehensive analysis of BRCA testing outcomes from Central Europe.
methodsA next-generation sequencing (NGS) analysis of BRCA1/2 was performed in a regional cohort of 1,021 consecutive breast cancer patients from Lower Silesia (Poland), treated between March 2024 and April 2025. Clinical and pathological characteristics were compared between PV/LPV carriers and non-carriers.
resultsNineteen distinct PVs/LPVs (11 in BRCA1 and 8 in BRCA2) were identified in 30 patients (2.94%; 95% CI: 2.07%–4.16%, Wilson). The most frequent variant was BRCA1 c.5266dup (30% of all variants), followed by c.181T > G (10%). Most variants (56.7%) were unique. No copy number variants were detected. Carriers were significantly younger at diagnosis (median 47 vs. 66 years; p < 0.0001) and exhibited a distinct tumor phenotype, including a markedly higher prevalence of triple-negative breast cancer (43.3% vs. 8.5%; OR = 8.24; p < 0.0001), lower ER/PR expression, higher Ki-67, larger tumor size, and more advanced stage at diagnosis (all p < 0.05).
conclusionsThe prevalence of BRCA1/2 PVs/LPVs in this unselected Polish regional cohort was lower than previously reported, with a high proportion of non-recurrent variants. This Central European cohort demonstrates results consistent with international benchmarks. Our findings suggest limited effectiveness of founder mutation–based testing strategies and support the implementation of comprehensive NGS-based diagnostics in routine clinical practice to improve detection of clinically relevant variants and guide treatment decisions.
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