Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing

Detection of driver gene mutations in stool DNA represents a promising noninvasive approach for screening colorectal cancer (CRC). Amplicon-based next-generation sequencing (NGS) is a good option to study mutations in many cancer genes simultaneously and from a low amount of DNA. Our aim was to assess the feasibility of identifying mutations in 22 cancer driver genes with Ion Torrent technology in stool DNA from a series of 65 CRC patients. The assay was successful in 80% of stool DNA samples. NGS results showed 83 mutations in cancer driver genes, 29 hotspot and 54 novel mutations.

Source: Journal of Molecular Diagnostics - May 3, 2016 Category: Pathology Authors: Gemma Armengol, Virinder K. Sarhadi, Reza Ghanbari, Masoud Doghaei-Moghaddam, Reza Ansari, Masoud Sotoudeh, Pauli Puolakkainen, Arto Kokkola, Reza Malekzadeh, Sakari Knuutila Tags: Regular article Source Type: research