Mismatch Repair as a Dynamic and Clinically Actionable Vulnerability in Cancer

Eleonora Piumatti1,2, Pietro Paolo Vitiello1,2, Vito Amodio2

  • 1Department of Oncology, Molecular Biotechnology Center, University of Torino, Turin, Italy.

Cancer Research
|September 24, 2025
PubMed

Insights

DNA mismatch repair (MMR) deficiency fuels anti-tumor immunity and response to immune checkpoint blockade (ICB). Understanding MMR dynamics offers new strategies to enhance immunotherapy for various cancers.

Area of Science:

  • Genomic Stability and Cancer Immunology
  • Molecular Mechanisms of DNA Repair
  • Tumor Microenvironment and Immunotherapy

Background:

  • DNA mismatch repair (MMR) is crucial for genomic integrity, correcting replication errors.
  • MMR deficiency (MMRd) leads to microsatellite instability, increased mutations, neoantigen generation, and immune activation.
  • MMRd status is a validated tumor-agnostic biomarker for immune checkpoint blockade (ICB) therapy.

Purpose of the Study:

  • To review how MMR loss drives immune activation and ICB response.
  • To discuss MMR status as a dynamic, context-dependent process.
  • To explore novel therapeutic strategies targeting MMR dynamics for immunotherapy.

Main Methods:

  • Review of current literature on MMR, genomic instability, and cancer immunology.
  • Analysis of evidence defining MMR status as a dynamic trait.
  • Exploration of therapeutic strategies to modulate MMR and enhance immunotherapy.

Main Results:

  • MMR loss significantly enhances immune response and ICB efficacy.
  • MMR status exhibits spatial and temporal heterogeneity, impacting diagnosis and treatment.
  • Strategies like alkylating agents and MMR inhibition can sensitize tumors to immunotherapy.

Conclusions:

  • Reframing MMR as a dynamic, targetable axis can broaden immunotherapy applications.
  • Exploiting MMR dynamics offers potential for precision immune oncology.
  • Emerging therapies targeting MMRd tumors show promise for improved cancer treatment.

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