Breast cancer subtyping using a novel multiplex RNA expression assay

Abstract

Background & Objective: Accurate tumour diagnosis is vital for adequate patient management. The current breast cancer diagnostic workflow is subject to pre-analytic variables, interpretation and defined thresholds. HER2 copy number assessment on 960 breast cancer samples (cBIOPortal, TCGA) is estimated to detect 1.3% amplification in the absence of expression (false positives) and 4.2%diploid with overexpression of the gene (false negatives). Despite updated guidelines, equivocal and inter-laboratory disconcordance persist. Here, we assess the performance of a novel gene expression assay for the diagnosis of breast cancer.