Article
Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing.
The Journal of molecular diagnostics : JMD - 1 Jan 2017
Nowak Jonathan A, Yurgelun Matthew B, Bruce Jacqueline L, Rojas-Rudilla Vanesa, Hall Dimity L, Shivdasani Priyanka, Garcia Elizabeth P, Agoston Agoston T, Srivastava Amitabh, Ogino Shuji, Kuo Frank C, Lindeman Neal I, Dong Fei
Abstract excerpt
Mismatch repair protein deficiency (MMR-D) and high microsatellite instability (MSI-H) are features of Lynch syndrome-associated colorectal carcinomas and have implications in clinical management. We evaluate the ability of a targeted next-generation sequencing panel to detect MMR-D and MSI-H based on mutational phenotype. Using a criterion of >40 total mutations per megabase or >5 single-base insertion or...
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