REVIEW article
Front. Med.
Sec. Gastroenterology
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1649565
Colorectal cancers associated with mismatch repair deficiency
Provisionally accepted
- 1UK Health Security Agency Radiation Chemical and Environmental Hazards Directorate, Didcot, United Kingdom
- 2London North West Healthcare NHS Trust, London, United Kingdom
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This review aims to summarize the latest updates in the prevention, diagnosis, treatment and management of colorectal cancers (CRCs) associated with mutation(s) or alteration(s) in the DNA mismatch repair (MMR) genes. It covers inheritable (Lynch syndrome, constitutional MMR-deficiency syndrome and Familial CRC X) and sporadic CRCs as well as Lynch-like syndrome with both heritable and sporadic features. Despite recommendation for universal testing in all newly diagnosed CRCs, cases with MMR deficiency (dMMR) are still generally underdiagnosed and undertreated in current clinical practice. The distinct molecular and clinicopathologic features of this unique subset of CRC have significant medical importance and have attracted continuous research interest over the years. Updated and currently ongoing research have shown promising results associated with improved clinical outcomes for these patients.
Keywords: colorectal cancer, Mismatch repair deficiency, Lynch and Lynch-like syndrome, Microsatellite Instability, Immune checkpoint inhibitor, Radiation Effects, mismatch repair (MMR)
Received: 18 Jun 2025; Accepted: 14 Aug 2025.
Copyright: © 2025 Sun, Monahan, Moquet and Barnard. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Mingzhu Sun, UK Health Security Agency Radiation Chemical and Environmental Hazards Directorate, Didcot, United Kingdom
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