In a large fraction of ER+/HER2- metastatic breast cancer (MBC), treatment with aromatase inhibitors fails due to emerging resistance. A key mechanism of this resistance is associated with a set of missense mutations in the gene encoding for the estrogen receptor (ESR1).
Digital PCR has exceptional sensitivity for detecting rare targets, making it ideal for detection of mutations linked to drug resistance. However, standard TaqMan-based assays rely upon competitive probe dynamics to maintain SNP-target specificity in mixed samples. This poster highlights the melt-capable Combinati Absolute Q digital PCR system to facilitate higher-order multiplexing to quantify more alleles in less time using less input sample required to achieve the same results by other assay methods.
Here we showcase a multiplex, quantitative, Research Use Only assay for the detection and identification of 11 ESR1 single nucleotide polymorphisms (SNPs) and the ESR1 gene in a single reaction, using patented, melt-based chemistry and an innovative digital PCR (dPCR) system.