Turkish Journal of Medical Sciences
DOI
10.3906/sag-2105-348
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
Keywords
Next generation sequencing, bioinformatics, prostate cancer, databases, germline mutations
First Page
131
Last Page
143
Recommended Citation
ÇAKIR, ALİ YAVUZ; ÖZTÜRK, KUYAŞ HEKİMLER; and ÖZORAK, ALPER
(2022)
"Germline variant screening with targeted next generation sequencing in prostate cancer: phenotype-genotype correlation,"
Turkish Journal of Medical Sciences: Vol. 52:
No.
1, Article 16.
https://doi.org/10.3906/sag-2105-348
Available at:
https://journals.tubitak.gov.tr/medical/vol52/iss1/16
