Abstract B55: PIK3CA mutation enrichment and detection in clinical samples

• Published in: Clinical cancer research Vol. 26; no. 11_Supplement; p. B55
• Main Authors: Keraite, Ieva, Alvarez-Garcia, Virginia, Favero, Jurgen Del, Kersaudy-Kerhoas, Maiwenn, Leslie, Nicholas
• Format: Journal Article
• Language: English
• Published: 01.06.2020
• ISSN: 1078-0432; 1557-3265
• DOI: 10.1158/1557-3265.LiqBiop20-B55

The PI3K/AKT/mTOR signaling pathway is one of the most frequently mutated pathways in human cancers, including breast cancer. Given the current urge for more personalized approaches, there is an increasing need for a rigorous list of biomarkers and detection methods with advanced, less-invasive, reliable, and low-cost technologies. Despite limited clinical results to date, the detection of PIK3CA mutations shows great potential to contribute in cancer patient management in the future at many different levels, including diagnosis, treatment choice and monitoring, and identification of drug resistance. However, current molecular methods still lack analytical sensitivity to detect mutations of low abundance in high wild-type DNA background. Makrigiorgos et al. recently developed a nuclease-assisted minor-allele enrichment assay with overlapping probes, which is practical and cost-effective and allows detection of very-low-abundance mutations that could have relevance in the clinic. Thus we aimed to develop PIK3CA mutation-specific nuclease-based enrichment assay and validate it with tissue biopsy and blood samples using crystal dPCR as well as combine it with our developed Sybr Green real-time qPCR detection method (Alvarez-Garcia et al. 2018), which allows a quick detection of PIK3CA mutations in clinical samples at low cost. Citation Format: Ieva Keraite, Virginia Alvarez-Garcia, Jurgen Del Favero, Maiwenn Kersaudy-Kerhoas, Nicholas Leslie. PIK3CA mutation enrichment and detection in clinical samples [abstract]. In: Proceedings of the AACR Special Conference on Advances in Liquid Biopsies; Jan 13-16, 2020; Miami, FL. Philadelphia (PA): AACR; Clin Cancer Res 2020;26(11_Suppl):Abstract nr B55.