Article
Microsatellite instability and high tumor mutational burden detected by next generation sequencing are concordant with loss of mismatch repair proteins by immunohistochemistry.
Cancer genetics - 1 Jan 2025
Yang Richard K, Alvarez Hector, Lucas Antony San, Roy-Chowdhuri Sinchita, Rashid Asif, Chen Hui, Ballester Leomar Y, Sweeney Keith, Routbort Mark J, Patel Keyur P, Luthra Rajyalakshmi, Medeiros L Jeffrey, Toruner Gokce A
Abstract excerpt
Impairment of DNA mismatch repair function in neoplasms can be assessed by DNA-based methods to assess for high microsatellite instability (MSI-High) or immunohistochemical (IHC) analysis to assess for deficiency of mismatch repair proteins (dMMR). Neoplasms with mismatch repair deficiency often have high tumor mutational burden (TMB-High). MSI-High, dMMR, and TMB-High are all histology agnostic biomarkers for...
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