Next generation sequencing for clinical diagnostics: Five year experience of an academic laboratory.

Clinical laboratories have adopted next generation sequencing (NGS) as a gold standard for the diagnosis of hereditary disorders because of its analytic accuracy, high throughput, and potential for cost-effectiveness. We describe the implementation of a single broad-based NGS sequencing assay to meet the genetic testing needs at the University of Minnesota. A single hybrid capture library preparation was used for each test ordered, data was informatically blinded to clinically-ordered genes, and identified variants were reviewed and classified by genetic counselors and molecular pathologists.

Is KRAS mutation associated with interval colorectal cancers?

Background: Colorectal cancers diagnosed in the interval after a complete colonoscopy may occur due to rapid tumor growth. Interval colorectal cancers are associated with microsatellite instability (MSI).

Aims: Our aim was to study the association of KRAS mutation with interval colorectal cancers and MSI.