Colorectal cancers associated with mismatch repair deficiency
File(s)
Published version
Author(s)
Sun, Mingzhu
Monahan, Kevin
Moquet, Jayne
Barnard, Stephen
Type
Journal Article
Abstract
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.
Date Issued
2025-09-08
Date Acceptance
2025-08-14
Citation
Frontiers in Medicine, 2025, 12
ISSN
2296-858X
Publisher
Frontiers Media S.A.
Journal / Book Title
Frontiers in Medicine
Volume
12
Copyright Statement
© 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) and the copyright owner(s) 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
License URL
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/40988755
Subjects
colorectal cancer
DEFECTS
EXTENDED COLECTOMY
General & Internal Medicine
HMLH1 PROMOTER
HYPERMETHYLATION
immune checkpoint inhibitor
Life Sciences & Biomedicine
lynch and lynch-like syndrome
LYNCH SYNDROME
Medicine, General & Internal
microsatellite instability
MICROSATELLITE INSTABILITY
mismatch repair deficiency
NEUROFIBROMATOSIS
radiation effects
RECTAL-CANCER
RISK
Science & Technology
TUMORS
Publication Status
Published
Coverage Spatial
Switzerland
Article Number
1649565
Date Publish Online
2025-09-08