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A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1.
Biomarker and diagnostic research for mismatch repair cancer syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
15 clinical trials registered, 7 recruiting. Interventions under study include drug therapy, other interventions, biologic therapy, and procedural interventions. Pipeline includes 8 PHASE2, 3 PHASE1, 1 NA. Research is sponsored by a mix of industry and academic institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT03050268](https://clinicaltrials.gov/study/NCT03050268) |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 12:43 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Familial Investigations of Childhood Cancer Predisposition |
— |
St. Jude Children's Research Hospital |
RECRUITING |
[NCT05770102](https://clinicaltrials.gov/study/NCT05770102) | DETERMINE Trial Treatment Arm 02: Atezolizumab in Adult, Paediatric and Teenage/Young Adult Patients With Cancers With High Tumour Mutational Burden (TMB) or Microsatellite Instability-high (MSI-high) or Proven Constitutional Mismatch Repair Deficiency (CMMRD) Disposition | PHASE2 | Cancer Research UK | RECRUITING |
[NCT07450612](https://clinicaltrials.gov/study/NCT07450612) | Liquid Biopsy and Machine Learning for Early Colorectal Cancer, Adenomas, Lynch Cancers, and Residual Disease Detection | — | San Raffaele University | RECRUITING |
[NCT06362369](https://clinicaltrials.gov/study/NCT06362369) | A Study of Oral 7HP349 (Alintegimod) in Combination With Ipilimumab Followed by Nivolumab Monotherapy | PHASE1 | 7 Hills Pharma, LLC | RECRUITING |
[NCT06549855](https://clinicaltrials.gov/study/NCT06549855) | PD-1 Inhibitor Combined With Progesterone Treatment in FST for Patients With MMRd Endometrial Cancer | NA | Peking University People's Hospital | RECRUITING |
15 publications have been identified in PubMed for mismatch repair cancer syndrome. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (20%), and Epidemiology / Natural History (20%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 5 | 33% |
Patient case studies | 3 | 20% |
Disease patterns and progression | 3 | 20% |
Testing and diagnosis research | 2 | 13% |
Clinical study results | 1 | 7% |
Laboratory research | 1 | 7% |
Vazzano Goldstone J (2026). [PMID: 41572278](https://pubmed.ncbi.nlm.nih.gov/41572278/). *Diagnostic pathology*. [Review / Meta-Analysis]
Aboubakr O (2025). [PMID: 39213667](https://pubmed.ncbi.nlm.nih.gov/39213667/). *Journal of neurosurgery*. [Epidemiology / Natural History]
Mertiri L (2025). [PMID: 41029896](https://pubmed.ncbi.nlm.nih.gov/41029896/). *Journal of neuroimaging : official journal of the American Society of Neuroimaging*. [Review / Meta-Analysis]
Cazzaniga L (2025). [PMID: 39831439](https://pubmed.ncbi.nlm.nih.gov/39831439/). *Tumori*. [Review / Meta-Analysis]
Massett M (2025). [PMID: 40743633](https://pubmed.ncbi.nlm.nih.gov/40743633/). *Cancer genetics*. [Case Report / Case Series]
Mar K (2025). [PMID: 39910726](https://pubmed.ncbi.nlm.nih.gov/39910726/). *Pediatric dermatology*. [Review / Meta-Analysis]
Gu Y (2025). [PMID: 39577348](https://pubmed.ncbi.nlm.nih.gov/39577348/). *Computers in biology and medicine*. [Basic Science / Preclinical]
Que FVF (2025). [PMID: 40138602](https://pubmed.ncbi.nlm.nih.gov/40138602/). *JCO precision oncology*. [Diagnostic / Biomarker]
Wang RF (2025). [PMID: 40032429](https://pubmed.ncbi.nlm.nih.gov/40032429/). *Zhonghua bing li xue za zhi = Chinese journal of pathology*. [Review / Meta-Analysis]
Nair G (2025). [PMID: 41224689](https://pubmed.ncbi.nlm.nih.gov/41224689/). *BMJ case reports*. [Case Report / Case Series]
AI-curated news mentioning mismatch repair cancer syndrome
Updated Feb 14, 2026
A recent study identifies a distinct mutational signature and clonal evolution in high-grade gliomas associated with constitutional mismatch repair deficiency. This research enhances understanding of the genetic underpinnings of these tumors, potentially guiding future therapeutic strategies.