Analytical Validation and Application of a Targeted Next-Generation Sequencing Mutation-Detection Assay for Use in Treatment Assignment in the NCI-MPACT Trial

Robust and analytically validated assays are essential for clinical studies. We outline an analytical validation study of a targeted next-generation sequencing mutation-detection assay used for patient selection in the National Cancer Institute Molecular Profiling–Based Assignment of Cancer Therapy (NCI-MPACT) trial (NCT01827384). Using DNA samples from normal or tumor cell lines and xenografts with known variants, we assessed the sensitivity, specificity, and reproducibility of the NCI-MPACT assay in five variant types: single-nucleotide variants (SNVs), SNVs at homopolymeric (HP) regions (≥3 identical bases), small insertions/deletions (indels), large indels (gap ≥4 Bp), and indels at HP regions.

Source: Journal of Molecular Diagnostics - November 19, 2015 Category: Pathology Authors: Chih-Jian Lih, David J. Sims, Robin D. Harrington, Eric C. Polley, Yingdong Zhao, Michele G. Mehaffey, Thomas D. Forbes, Biswajit Das, William D. Walsh, Vivekananda Datta, Kneshay N. Harper, Courtney H. Bouk, Lawrence V. Rubinstein, Richard M. Simon, Barb Tags: Regular Article Source Type: research