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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.
Abstract:
DNA mismatch repair (MMR) preserves genomic integrity by correcting replication errors. Deficiency in MMR results in microsatellite instability, increased tumor mutational burden, neoantigen generation, and activation of the immune response. In this review, we first outline how MMR loss promotes immune activation and responsiveness to immune checkpoint blockade (ICB), establishing MMR-deficient (MMRd) status as the first tumor-agnostic biomarker for ICB therapy. Subsequently, we summarize the compelling evidence that defines MMR status as a dynamic, context-dependent process influenced by environmental and therapeutic pressures, rather than a fixed, binary trait. Accordingly, we discuss the implications of the spatial and temporal heterogeneity of MMR status for both the diagnosis and treatment of cancer, the differential response of MMRd tumors to ICB, as well as the occasional benefits observed in MMR-proficient immune-cold cancers. We then explore strategies to exploit MMR dynamics and mimic MMRd-like phenotypes through alkylating agents, pharmacologic MMR inhibition, and stress-mediated modulation, with the aim of sensitizing refractory tumors to immunotherapy. Finally, we report emerging therapeutic opportunities in MMRd tumors, including Werner helicase inhibition, nonsense-mediated decay blockade, and neoantigen-targeted vaccines. Altogether, reframing MMR as a dynamic and targetable axis may broaden immunotherapy applicability and advance precision immune oncology across different tumor types.
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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