Simultaneous Detection of Clinically Relevant Mutations and Amplifications for Routine Cancer Pathology

We present a modified version of a multiplexed PCR and IonTorrent-based sequencing approach that can replace a large number of existing assays. The test allows for the simultaneous detection of point mutations and gene amplifications in 40 genes, including known hotspot regions in oncogenes (KRAS, BRAF), inactivating mutations in tumor suppressors (TP53, PTEN), and oncogene amplifications (ERBB2, EGFR).

Source: Journal of Molecular Diagnostics - October 24, 2014 Category: Pathology Authors: Marlous Hoogstraat, John W.J. Hinrichs, Nicolle J.M. Besselink, Joyce H. Radersma-van Loon, Carmen M.A. de Voijs, Ton Peeters, Isaac J. Nijman, Roel A. de Weger, Emile E. Voest, Stefan M. Willems, Edwin Cuppen, Marco J. Koudijs Tags: Technical Advance Source Type: research