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Germline variant screening with targeted next generation sequencing in prostate cancer: phenotype-genotype correlation
2022
Journal:  
Turkish Journal of Medical Sciences
Author:  
Abstract:

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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2022
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2022
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Turkish Journal of Medical Sciences

Field :   Sağlık Bilimleri

Journal Type :   Uluslararası

Metrics
Article : 4.115
Cite : 3.236
Turkish Journal of Medical Sciences