Clinical Validation of Targeted Next Generation Sequencing for Colon and Lung Cancers.

ABSTRACT:

Objective

Recently, Next Generation Sequencing (NGS) has begun to supplant other technologies for gene mutation testing that is now required for targeted therapies. However, transfer of NGS technology to clinical daily practice requires validation.

Methods

We validated the Ion Torrent AmpliSeq Colon and Lung cancer panel interrogating 1850 hotspots in 22 genes using the Ion Torrent Personal Genome Machine. First, we used commercial reference standards that carry mutations at defined allelic frequency (AF). Then, 51 colorectal adenocarcinomas (CRC) and 39 non small cell lung carcinomas (NSCLC) were retrospectively analyzed.

Results

Sensitivity and accuracy for detecting variants at an AF >4% was 100% for commercial reference standards. Among the 90 cases, 89 (98.9%) we

SUBMITTER: D'Haene N 

PROVIDER: S-EPMC4569137 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature