2025/12/06 by Dionysiοs Fanidis, Dionysios Fanidis, Eirini Moutsouri +6
Biochemistry, Genetics and Molecular Biology · #BRCA gene mutations in cancer #Genetic Associations and Epidemiology #Genomics and Rare Diseases
paper · doi:10.1016/j.ygeno.2025.111169
openalex created_date 2025/12/06 · openalex publication_date 2025/12/06 · openalex updated_date 2026/07/29
Understanding a population's genetic landscape is essential for the effective implementation of precision medicine strategies. Leveraging exome sequencing data from biobank.cy general-population participants, we assessed the prevalence of medically actionable variants based on ACMG recommendations. To minimize classifier-specific bias, we applied three complementary pathogenicity assignment methods shaping a core and an extended set of alleles, identifying actionable variants in ∼4-5 % of Cypriot individuals. Cardiovascular and cancer-related variants accounted for most findings, with genes such as LDLR, PALB2, RYR1 and HNF1A contributing significantly to the mutational burden. Comparative analyses against other cohorts revealed 19 enriched and 4 unique actionable variants in Cyprus. While most findings overlap with broader populations, this study underscores Cyprus's distinct genetic profile shaped by its complex demographic history. Our findings provide actionable insights for healthcare planning, support population-specific genomic screening programs development, and contribute to the global effort to refine precision medicine applications.