2014The EPMA JournalOpen access

Comparing ion torrent with pyrosequencing and Sanger sequencing for the detection of TP53 mutations in colorectal cancer

Brendan Doyle, Clarence Lee, Timothy T. Harkins, Rosella Petraroli, Paul Smyth, Kieran Sheahan, John O’Leary, Orla Sheils

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Abstract

Scientific objectivesThe detection of mutations in tumour tissue is increasingly important to pathologists due to the number of targeted, personalised therapies that are only effective in tumours displaying specific mutations.At present, much of the testing to detect these mutations is performed using individual assays.This has proven to be an effective method as the number of 'drugable' mutations is currently relatively low.However, the number of targeted therapies (and therefore targets to be assessed) is expected to rise significantly.This has led to the development of assays capable of assessing mutations across multiple gene panels.Here we assess one new technology (Ion Torrent's PGM), comparing the results to those obtained with pyrosequencing and Sanger sequencing, both established technologies used in molecular pathology laboratories.

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Scientific objectivesThe detection of mutations in tumour tissue is increasingly important to pathologists due to the number of targeted, personalised therapies that are only effective in tumours displaying specific mutations.At present, much of the testing to detect these mutations is performed using individual assays.This has proven to be an effective method as the number of 'drugable' mutations is currently relatively low.However, the number of targeted therapies (and therefore targets to be assessed) is expected to rise significantly.This has led to the development of assays capable of assessing mutations across multiple gene panels.Here we assess one new technology (Ion Torrent's PGM), comparing the results to those obtained with pyrosequencing and Sanger sequencing, both established technologies used in molecular pathology laboratories.

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Available abstract

Scientific objectivesThe detection of mutations in tumour tissue is increasingly important to pathologists due to the number of targeted, personalised therapies that are only effective in tumours displaying specific mutations.At present, much of the testing to detect these mutations is performed using individual assays.This has proven to be an effective method as the number of 'drugable' mutations is currently relatively low.However, the number of targeted therapies (and therefore targets to be assessed) is expected to rise significantly.This has led to the development of assays capable of assessing mutations across multiple gene panels.Here we assess one new technology (Ion Torrent's PGM), comparing the results to those obtained with pyrosequencing and Sanger sequencing, both established technologies used in molecular pathology laboratories.

Key concepts: Sanger sequencing, Pyrosequencing, Ion semiconductor sequencing, Biology, Colorectal cancer, Computational biology, Mutation, DNA sequencing

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Comparing ion torrent with pyrosequencing and Sanger sequencing for the detection of TP53 mutations in colorectal cancer — Research Paper | ScholarLens