lunes, 30 de octubre de 2017

Evaluation of a next-generation sequencing assay for BRCA1 and BRCA2 mutation detection. - PubMed - NCBI

2017 Oct 20. pii: S1525-1578(17)30338-0. doi: 10.1016/j.jmoldx.2017.09.005. [Epub ahead of print]

Evaluation of a next-generation sequencing assay for BRCA1 and BRCA2 mutation detection.

Capone GL1, Putignano AL1, Saavedra ST1, Paganini I1, Sestini R1, Gensini F1, De Rienzo I1, Papi L2, Porfirio B1.

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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-size variants and seven gross rearrangements were analyzed, showing 100% concordance with gold standards. Furthermore, all other 43 variants (42 SNV/indels + one CNV, whose significance is or may be of clinical value), that were called by the NGS assay in a prospectively analyzed 179-sample set, were confirmed by either 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.