Journals / Turkish Journal of Medical Sciences / 2022 / Cilt: 52 - Sayı: 1

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

Pages
131–143
Publication Date
2022-11-03
DOI
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AI Summary & Key Takeaways

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Results: With an incidence of less than 5% in different populations (MAF

📌 3 Key Takeaways

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Objective & Hypothesis:Background/aim: Next generation sequencing provides new information about the molecular pathogenesis of cancer.
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Key Findings & Data: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.
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Conclusion & Impact:Results: With an incidence of less than 5% in different populations (MAF
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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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Cite This Article

ÖZORAK, A., ÇAKIR, A. Y., ÖZTÜRK, K. H. (2022). Germline variant screening with targeted next generation sequencing in prostate cancer: phenotype-genotype correlation. Turkish Journal of Medical Sciences, Cilt: 52 - Sayı: 1, 131–143. https://ajindex.com/articles/609233

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References (12)

  1. Castro E, Eeles R. The role of BRCA1 and BRCA2 in prostate cancer. Asian Journal of Andrology 2012
  2. 14(3): 409-414. doi: 10.1038/aja.2011.150 2. Wallis CJ, Nam RK. Prostate cancer genetics: a review. The Journal of The International Federation of Clinical Chemistry and Laboratory Medicine 2015
  3. 26(2): 79-91. 3. Bambury RM, Gallagher DJ. Prostate cancer: germline prediction for a commonly variable malignancy. British Journal of Urology International 2012
  4. 110(11 Pt C): E809-818. doi: 10.1111/j.1464-410X.2012.11450.x 4. Nicolosi P, Ledet E, Yang S, Michalski S, Freschi B et al. Prevalence of germline variants in prostate cancer and implications for current genetic testing guidelines. JAMA Oncology 2019
  5. 5(4): 523-528. doi: 10.1001/jamaoncol.2018.6760 5. Schweizer MT, Antonarakis ES. Prognostic and therapeutic implications of DNA repair gene mutations in advanced prostate cancer. Clinical Advances in Hematology & Oncology 2017
  6. 785–795. 6. Mohler JL, Antonarakis ES, Armstrong AJ, D’Amico AV, Davis BJ et al. Prostate cancer, version 2.2019, NCCN clinical practice guidelines in oncology. Journal of the National Comprehensive Cancer Network: JNCCN 2019
  7. 17(5), 479–505. https://doi. org/10.6004/jnccn. 2019.0023 7. Meldrum C, Doyle MA, Tothill RW. Next-generation sequencing for cancer diagnostics: a practical perspective. Clinical Biochemistry Review 2011
  8. 32(4): 177-195. 8. Guo Y, Zhao S, Sheng Q, Ye F, Li J et al. Multi-perspective quality control of Illumina exome sequencing data using QC3. Genomics 2014
  9. 103(5-6): 323-328. doi: 10.1016/j. ygeno.2014.03.006 9. Benafif S, Kote-Jarai Z, Eeles RA. PRACTICAL Consortium. A review of prostate cancer genome-wide association studies (GWAS). Cancer Epidemiology Biomarkers & Prevention 2018
  10. 27(8): 845-857. doi: 10.1158/1055-9965.EPI-16-1046 10. Swisher EM. Usefulness of multigene testing: catching the train that’s left the station. JAMA Oncology 2015
  11. 1(7): 951-952. doi: 10.1001/jamaoncol.2015.2699 11. Landero-Huerta DA, Vigueras-Villaseñor RM, YokoyamaRebollar E, García-Andrade F, Rojas-Castañeda JC et al. Cryptorchidism and testicular tumor: comprehensive analysis of common clinical features and search of SNVs in the KIT and AR Genes. Frontiers in Cell and Developmental Biology 2020
  12. doi: 10.3389/fcell.2020.00762 12. Sribudiani Y, Marwan DW, Aulanni’am A, Widodo MA, Purnomo BB et al. Germline mutations and polymorphisms of androgen receptor in prostate cancer patients: frequency and results of in silico