Alper ÖZORAK, Ali Yavuz ÇAKIR, Kuyaş HEKİMLER ÖZTÜRK

Germline variant screening with targeted next generation sequencing in prostate cancer: phenotype-genotype correlation

Background/aim: Next generation sequencing provides new information about the molecular pathogenesis of cancer. We used a targeted NGS-based multiple gene panel comprising prostate cancer (PCa) predisposing genes to assess the prevalence of germline mutations in PCa patients. Material and methods: In a cohort of twenty-one PCa patients with a family history of cancer, a targeted multigene panel consisting of 39 genes associated with hereditary cancer was created and analyzed using the next generation sequencing method. The novel and pathogenic mutations detected were confirmed by Sanger sequencing method. Thereafter, the data obtained were evaluated using different genomic variant classifiers and databases. Results: With an incidence of less than 5% in different populations (MAF

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