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Article

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

The Journal of molecular diagnostics : JMD - 1 Jan 2018

Capone Gabriele Lorenzo, Putignano Anna Laura, Trujillo Saavedra Sharon, Paganini Irene, Sestini Roberta, Gensini Francesca, De Rienzo Irene, Papi Laura, Porfirio Berardino

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29061375
DOI: 10.1016/j.jmoldx.2017.09.005

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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