High resolution detection of HER2 copy number variation in admixed breast cancer cell lines and HER2+ FFPE donor tissue using a digital PCR multigene reference panel
The current gold standard method for diagnosis of copy number variation (CNV) in HER2 is IHC with concordant FISH results. Digital PCR (dPCR) has the potential to serve as a viable complementary or even alternative method by allowing direct and precise quantification of HER2 CNV. In this study, the Authors describe a multiplex assay optimized for high-resolution HER2 CNV detection using a 100,000 partition dPCR configuration. In order to evaluate clinically relevant sample types, assay performance was assessed in DNA extracted from FFPE, as well as admixed cell line DNA simulating low tumorfraction.
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