Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection.
J Mol Diagn
; 20(1): 87-94, 2018 01.
Article
em En
| MEDLINE
| ID: mdl-29061375
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteína BRCA1
/
Proteína BRCA2
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Mutação
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article