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CC BY 4.0 · Journal of Coloproctology 2025; 45(01): s00451805009
DOI: 10.1055/s-0045-1805009
Review Article

Updates on DNA Repair Gene Deficiency in Colorectal Cancer (dMMR)

Gustavo Sevá-Pereira 
1   State University of Campinas, Campinas, SP, Brazil
,
Claudio Saddy Rodrigues Coy
1   State University of Campinas, Campinas, SP, Brazil
,
Carlos Augusto Real Martinez
1   State University of Campinas, Campinas, SP, Brazil
› Author Affiliations Funding This research received no external funding.
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Abstract

Objective

This study explores the role of DNA mismatch repair (MMR) deficiency (dMMR) in colorectal cancer (CRC). We review how it influences the development of cancer, how it is diagnosed, and the latest treatments available, including how patients with dMMR respond to specific therapies differently than others.

Methods

We conducted a thorough review of current research, focusing on studies that address how dMMR affects people with colorectal cancer. We excluded studies on animals or cases that weren't directly relevant to human colorectal cancer. The focus was on how new knowledge and treatments change patient care.

Results

Around 15% of colorectal cancer cases involve dMMR, which is often linked to Lynch Syndrome and specific genetic changes. Patients with dMMR tend to have better outcomes in the early stages of cancer but respond poorly to traditional chemotherapy. However, these patients show significant improvement with immunotherapy, especially treatments targeting immune checkpoint proteins. Advances in diagnostic tools like microsatellite instability (MSI) testing and next-generation sequencing are helping doctors identify these cases earlier and choose better treatment options.

Conclusions

Recognizing dMMR in colorectal cancer is crucial for deciding the best treatment plan. Immunotherapy is proving to be particularly effective for these patients, and as diagnostic methods improve, we expect even better outcomes, especially for those with a hereditary risk like Lynch Syndrome.

Keywords

colorectal cancer - DNA mismatch repair deficiency - microsatellite instability - immunotherapy - lynch syndrome

Author Contributions

Conceptualization of the work and manuscript drafting, GSP.

CSRC and CARM directly provided contributions, read, and approved the final manuscript,

All authors have read and agreed to the published version of the manuscript.




Publication History

Received: 01 November 2024

Accepted: 05 February 2025

Article published online:
28 March 2025

© 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)

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Bibliographical Record
Gustavo Sevá-Pereira, Claudio Saddy Rodrigues Coy, Carlos Augusto Real Martinez. Updates on DNA Repair Gene Deficiency in Colorectal Cancer (dMMR). Journal of Coloproctology 2025; 45: s00451805009.
DOI: 10.1055/s-0045-1805009
 

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