Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection
| Autor: | Anna Laura Putignano, Francesca Gensini, Sharon Trujillo Saavedra, Gabriele Lorenzo Capone, Irene Paganini, Berardino Porfirio, Roberta Sestini, Irene De Rienzo, Laura Papi |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
DNA Copy Number Variations Concordance Susceptibility gene Biology Polymorphism Single Nucleotide DNA sequencing Pathology and Forensic Medicine 03 medical and health sciences symbols.namesake Exon 0302 clinical medicine BRCA2 Mutation Humans Multiplex Copy-number variation BRCA2 Protein Genetics Sanger sequencing BRCA1 Protein High-Throughput Nucleotide Sequencing Reproducibility of Results Exons 030104 developmental biology 030220 oncology & carcinogenesis Mutation symbols Molecular Medicine |
| Zdroj: | The Journal of Molecular Diagnostics. 20:87-94 |
| ISSN: | 1525-1578 |
| Popis: | The efficiency of a novel targeted next-generation sequencing (NGS) test, the Devyser BRCA kit, for a comprehensive analysis of all 48 coding exons of the high-risk breast/ovarian cancer susceptibility genes BRCA1 and BRCA2 has been assessed. The new assay intended to detect nucleotide substitutions, small deletions/insertions, and large deletions/duplications. To document the false-negative and false-positive rates of the NGS assay in the hands of end users, 48 samples with previously identified 444 small variants and seven gross rearrangements were analyzed, showing 100% concordance with gold standards. Furthermore, all other 43 variants (42 single-nucleotide variation or insertion/deletion variation and one copy number variation, whose significance is or may be of clinical value), which were called by the NGS assay in a prospectively analyzed 179-sample set, were confirmed by Sanger sequencing or multiplex ligation probe amplification, according to their nature. We conclude that the Devyser BRCA kit performed satisfactorily for use in a clinical laboratory. |
| Databáze: | OpenAIRE |
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