Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection. Capone, G. L., Putignano, A. L., Trujillo Saavedra, S., Paganini, I., Sestini, R., Gensini, F., De Rienzo, I., Papi, L., & Porfirio, B. The Journal of Molecular Diagnostics, 20(1):87–94, January, 2018.
Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection [link]Paper  doi  abstract   bibtex   
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.
@article{capone_evaluation_2018,
	title = {Evaluation of a {Next}-{Generation} {Sequencing} {Assay} for {BRCA1} and {BRCA2} {Mutation} {Detection}},
	volume = {20},
	issn = {1525-1578},
	url = {http://www.sciencedirect.com/science/article/pii/S1525157817303380},
	doi = {10.1016/j.jmoldx.2017.09.005},
	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.},
	language = {en},
	number = {1},
	urldate = {2020-02-11},
	journal = {The Journal of Molecular Diagnostics},
	author = {Capone, Gabriele Lorenzo and Putignano, Anna Laura and Trujillo Saavedra, Sharon and Paganini, Irene and Sestini, Roberta and Gensini, Francesca and De Rienzo, Irene and Papi, Laura and Porfirio, Berardino},
	month = jan,
	year = {2018},
	keywords = {BRCA1, BRCA1/2, BRCA2, Benchmark, Blood, Breast cancer, Bundle, CNV, Genomics, HBOC, Hereditary Disorders, INDEL, Illumina Sequencer, Liquid Biopsy, Oncology, Ovarian Cancer, SNV, SOPHiA DDM, Solid Tumor, Targeted},
	pages = {87--94},
}

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