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.
Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection / Capone, Gabriele Lorenzo; Putignano, Anna Laura; Saavedra, Sharon Trujillo; Paganini, Irene; Sestini, Roberta; Gensini, Francesca; De Rienzo, Irene; Papi, Laura; Porfirio, Berardino. - In: THE JOURNAL OF MOLECULAR DIAGNOSTICS. - ISSN 1525-1578. - STAMPA. - 20:(2018), pp. 87-94. [10.1016/j.jmoldx.2017.09.005]
Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection
Capone, Gabriele Lorenzo;Putignano, Anna Laura;Paganini, Irene;Sestini, Roberta;Gensini, Francesca;DE RIENZO, IRENE;Papi, Laura
;Porfirio, Berardino
2018
Abstract
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.File | Dimensione | Formato | |
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