The Detection of HER2 Gene Amplification in Breast Cancer by upQMPSF

The amplification of human epidermal growth factor receptor 2 (HER2) gene in breast cancer identifies patients eligible for Trastuzumab therapy. immunohistochemistry (IHC) and/or fluorescent in situ hybridization (FISH) are the only FDA approved techniques for evaluating HER2 status. However, Interobserver variability is still a dilemma. The aim of this study is to develop a new PCR-based technology that is accurate, reliable, less subjective, cost-effective and easier to interpret result. universally-primed Quantitative Multiplex PCR Short Fluorescent Fragments (upQMPSF) identified 3 (18.8%) positive cases and 13 (71.2%) negative. The agreement between FISH and upQMPSF was in 15 of 16 (93.7%) samples with confidence interval (0.7-1.0). upQMPSF may offer an alternative method for the detection of HER2 gene amplification in breast cancer patients, given the small amount of DNA required and faster turnaround result, A larger study is underway to demonstrate the accuracy of cases with equivocal results (FISH 1.8- 2.2).

Keywords: upQMPSF; HER2; FISH; immunohistochemistry; Trastuzumab.