Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection.

Autor:	Capone GL; Department of Experimental and Clinical Biomedical Sciences Mario Serio, Medical Genetics Unit, University of Florence, Florence, Italy., Putignano AL; Department of Experimental and Clinical Biomedical Sciences Mario Serio, Medical Genetics Unit, University of Florence, Florence, Italy., Trujillo Saavedra S; Department of Experimental and Clinical Biomedical Sciences Mario Serio, Medical Genetics Unit, University of Florence, Florence, Italy., Paganini I; Department of Experimental and Clinical Biomedical Sciences Mario Serio, Medical Genetics Unit, University of Florence, Florence, Italy., Sestini R; Department of Experimental and Clinical Biomedical Sciences Mario Serio, Medical Genetics Unit, University of Florence, Florence, Italy., Gensini F; Department of Experimental and Clinical Biomedical Sciences Mario Serio, Medical Genetics Unit, University of Florence, Florence, Italy., De Rienzo I; Department of Experimental and Clinical Biomedical Sciences Mario Serio, Medical Genetics Unit, University of Florence, Florence, Italy., Papi L; Department of Experimental and Clinical Biomedical Sciences Mario Serio, Medical Genetics Unit, University of Florence, Florence, Italy. Electronic address: laura.papi@unifi.it., Porfirio B; Department of Experimental and Clinical Biomedical Sciences Mario Serio, Medical Genetics Unit, University of Florence, Florence, Italy.
Jazyk:	angličtina
Zdroj:	The Journal of molecular diagnostics : JMD [J Mol Diagn] 2018 Jan; Vol. 20 (1), pp. 87-94. Date of Electronic Publication: 2017 Oct 20.
DOI:	10.1016/j.jmoldx.2017.09.005
Abstrakt:	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. (Copyright © 2018 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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