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
Rok vydání: 2018
Předmět:
Zdroj: The Journal of Molecular Diagnostics. 20:87-94
ISSN: 1525-1578
DOI: 10.1016/j.jmoldx.2017.09.005
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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