DNA mismatch repair and microsatellite instability in colorectal tumors: an observational study in the Veterans Affairs Health Care System

Future Oncol. 2022 Feb;18(6):649-660. doi: 10.2217/fon-2021-0874. Epub 2022 Jan 24.

Abstract

Background: Challenges in identifying microsatellite instability (MSI)/mismatch repair (MMR)-tested colorectal carcinoma (CRC) patients in electronic health records have led to gaps in the understanding of MSI-high/deficient mismatch repair prevalence. Methods: An algorithm to identify MSI-/MMR-tested Veterans Affairs patients was developed and an observational study of adult CRC patients with MSI/MMR testing from 2010 to 2018 was undertaken. Results: An optimized model to identify MSI-/MMR-tested patients yielded high positive predictive value (89.0%) and specificity (97.8%). The authors observed MSI-high/deficient mismatch repair CRC in 54 of 291 patients (18.6%); highest frequencies were observed in stages II (25.9%) and III (22.6%) and lowest in stage IV (5.8%). Conclusions: In this real-world study, the authors proposed a novel method of identifying MSI-/MMR-tested patients. Further validation and refinement of this model, and study in a larger CRC cohort, is warranted.

Keywords: Veterans Affairs; colorectal cancer; microsatellite instability; mismatch repair.

Publication types

  • Observational Study

MeSH terms

  • Adult
  • Algorithms
  • Colorectal Neoplasms / diagnosis*
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / pathology
  • DNA Mismatch Repair*
  • Databases, Factual*
  • Electronic Health Records*
  • Female
  • Humans
  • Male
  • Microsatellite Instability*
  • Middle Aged
  • Neoplasm Staging
  • United States
  • Veterans Health Services

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