Department of Bioengineering, Science Institute, Süleyman Demirel University, Isparta, Turkey.
Department of Medical Genetics, Faculty of Medicine, Süleyman Demirel University, Isparta, Turkey.
Turk J Med Sci. 2022 Feb;52(1):131-143. doi: 10.3906/sag-2105-348. Epub 2022 Feb 22.
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.
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.
With an incidence of less than 5% in different populations (MAF<0.05); a total of 81 variants were identified, including 41 missense, 16 synonymous, 3 splice-site, 11 intronic, 5 in-del and 5 novels. According to the ACMG criteria, 5 (6.2%) of these variants are pathogenic/likely pathogenic; 5 (6.2%) of them were classified as novel variants. In addition, variants having very low-frequency and unknown clinical significance (VUS) in the databases were detected.
下一代测序为癌症的分子发病机制提供了新信息。我们使用基于靶向 NGS 的多个基因panel，包括前列腺癌（PCa）易感基因，以评估前列腺癌患者种系突变的患病率。
在 21 名有癌症家族史的 PCa 患者队列中，创建了一个包含 39 个与遗传性癌症相关基因的靶向多基因 panel，并使用下一代测序方法进行分析。通过 Sanger 测序方法确认检测到的新的致病性突变。然后，使用不同的基因组变异分类器和数据库对获得的数据进行评估。
在不同人群中的发生率低于 5%（MAF<0.05）；共鉴定出 81 个变体，包括 41 个错义、16 个同义、3 个剪接位点、11 个内含子、5 个插入/缺失和 5 个新变体。根据 ACMG 标准，其中 5 个（6.2%）变体是致病性/可能致病性的；其中 5 个（6.2%）被归类为新变体。此外，还检测到数据库中低频且临床意义未知的变异（VUS）。
