The team at Devyser were excited to see our products put to use in a recent research project, affirming its application in both research and diagnostic applications. “A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis”, published in Clinica Chimica Acta 480 by an Italian research team (Concolino, Rizza, Mignone et al) investigated the ability of Next Generation Sequencing (NGS) to function as the primary method for detection of BRCA1/2 Large Genomic Rearrangements (LGRs).
Comprehensive testing of LGRs has been in wide use since 2006, however the most commonly used technique, multiplex ligation-dependent probe amplification (MLPA) has limitations when a great number of samples need to be processed in a short time. Today, many diagnostics laboratories use NGS-based platforms as their main technology for clinical testing, however reliable CNV (Copy Number Variation) information has remained a challenge for NGS-based technologies.
The purpose of this study was to validate a workflow involving the Devyser BRCA panel, Illumina MiSeq platform and the Amplicon Suite software (SmartSeq) for CNV detection in BRCA 1/2 genes.
In comparison to MLPA and MAQ testing, the study found that an integrative approach using NGS was able to detect all present pathogenic LGRs affecting BRCA 1/2 genes, while reducing the time and effort required for CNV analysis.
The paper concludes that: “The workflow represents a robust and easy-to-use-method for full BRCA1/2 screening, which can be easily implemented in routine diagnostic testing.”