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Next-generation sequencing–based detection of germline copy number variations in BRCA1/BRCA2: Validation of a one-step diagnostic work-flow

Journal of Molecular Diagnostics Aug 30, 2017

Schmidt AY, et al. – The goal of this study was to examine the next–generation sequencing (NGS) based detection of germline copy number variations in BRCA1/BRCA2, among Danish breast and/or ovarian cancer families. The findings validated a one–step bioinformatics work–flow to call germline BRCA1/2 CNVs using data obtained by NGS of a breast cancer gene panel. The work–flow represented a robust and easy–to–use method for full BRCA1/2 screening. It exhibited easy application in routine diagnostic testing and adapted to genes other than BRCA1/2.
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