ReviewNature reviews. Clinical oncology2025
Epidemiology, pathogenesis, biology and evolving management of MSI-H/dMMR cancers.
Review in Nature reviews. Clinical oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed.
- Exploratory biomarkers for oxaliplatin-induced nivolumab responsiveness in metastatic microsatellite-stable colorectal cancer.British journal of cancer · 2026Trial
- DNA methylation signatures of sporadic colorectal cancer with microsatellite instability.Epigenetics · 2026Article
- Endoscopic and imaging evaluations of neoadjuvant immunotherapy in patients with locally advanced colorectal cancer with dMMR/MSI-H or POLE/POLD1 mutation.European radiology · 2026Article
- Real-world demographics and survival outcomes of patients in England with advanced or recurrent endometrial cancer by mismatch repair status.Gynecologic oncology reports · 2026Article
- Optimizing Postoperative Management in Deficient Mismatch Repair/Microsatellite Instability-High Gastric or Gastroesophageal Junction Adenocarcinoma: A Multicenter Retrospective Study.Journal of gastric cancer · 2026Article
- Clinicopathological and molecular profiling of sporadic synchronous multiple primary colorectal cancers: focus on microsatellite instability status.Journal of gastrointestinal oncology · 2026Article
- Mutant KRAS peptide vaccine with dual checkpoint blockade in metastatic colorectal cancer: a phase I trial.Nature communications · 2026Article
- Review
- Absence of co-occurrence between HER2 amplification and dMMR/MSI in a large multicentric colorectal cancer cohort.Scientific reports · 2026Article
- Checkpoint inhibitors in microsatellite instability-high metastatic colorectal cancer: treatment strategies, specificities, and care management questions.ESMO gastrointestinal oncology · 2026Review
- Impact of mucinous histology on the efficacy of neoadjuvant immunotherapy in localized mismatch repair-deficient colorectal cancer.BMC cancer · 2026Article
- Is surgery necessary for mismatch repair-deficient/microsatellite instability-high colorectal cancer patients with a clinical complete response after neoadjuvant immunotherapy? A retrospective cohort study with literature context.World journal of surgical oncology · 2026Review
- Efficacy and safety of immune checkpoint inhibitors in patients with high microsatellite instability/mismatch repair-deficient advanced cholangiocarcinoma: A propensity score-matched study.JHEP reports : innovation in hepatology · 2026Article
- Integration Analysis of Bayesian and Machine Learning for Heterogeneity, Biomarkers, and Optimal Combination Regimens of Pucotenlimab in Solid Tumors.Cancer medicine · 2026Article
- Mucinous histology and resistance to immune checkpoint blockade in patients with microsatellite instability-high metastatic colorectal cancer.The oncologist · 2026Article
- Pioneering preoperative anti-PD-1 immunotherapy enables curative resection in dMMR advanced/recurrent endometrial carcinoma: a case series (2020-2022).Discover oncology · 2026Article
- Next generation approaches in cancer immunotherapy targeting mechanisms beyond PD1 and PDL1.Discover oncology · 2026Review
- Comprehensive bioinformatic analysis reveals TRPM4 as a biomarker for pan-cancer progression and macrophage infiltration.Discover oncology · 2026Article
- Early- and advanced-stage MSI-H non-colorectal cancers: best management and challenges in 2025.ESMO gastrointestinal oncology · 2026Review
- Endocrine Therapy for Endometrial Carcinoma: Current Evidence, Resistance Mechanisms, and Biomarker-Driven Patient Selection.Current oncology (Toronto, Ont.) · 2026Review
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Deficiency in DNA mismatch repair (dMMR) is a common pathway of carcinogenesis across different tumour types and confers a characteristic microsatellite instability-high (MSI-H) molecular phenotype. The prevalence of the MSI-H/dMMR phenotype is highest in endometrial and colorectal cancers, and this phenotype is associated with a distinct tumour biology, prognosis and responsiveness to various anticancer treatments. In a minority of patients, MSI-H/dMMR cancers result from an inherited pathogenic variant in the context of Lynch syndrome, which has important implications for familial genetic screening. Whether these hereditary cancers have a different biology and clinical behaviour to their sporadic counterparts remains uncertain. Interest in this tumour molecular subtype has increased following the discovery of the high sensitivity of metastatic MSI-H/dMMR cancers to immune-checkpoint inhibitors (ICIs) in a histology-agnostic manner, which reflects the genomic hypermutation resulting from dMMR that renders these tumours highly immunogenic and immune infiltrated. This vulnerability is now also being exploited in early stage disease settings. Despite this common biological foundation, different MSI-H/dMMR cancers have histotype-specific features that correspond to their particular cell or tissue of origin, which might be associated with differences in prognosis and sensitivity to ICIs. In this Review, we provide an overview of the epidemiology, biology, pathogenesis, clinical diagnosis and treatment of MSI-H/dMMR tumours as a histology-agnostic cancer phenomenon. We also highlight peculiarities associated with specific pathogenetic alterations and histologies of MSI-H/dMMR tumours.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.