Article
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.
BMC cancer - 21 Apr 2026
Matkowski Rafal, Abrahamowska Mariola, Michalowska Dagmara, Chrusciel Agnieszka, Szelachowska Jolanta, Blomka Dorota, Lawicka Paulina, Czykalko Ewelina, Pietron Aleksandra, Ekiert Marcin, Doraczynska-Kowalik Anna, Janus-Szymanska Gabriela, Kasprzak Piotr, Szynglarewicz Bartlomiej, Laczmanska Izabela
Abstract excerpt
BACKGROUND: The 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...
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