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mismatch repair cancer syndrome 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mismatch repair cancer syndrome 4

MONDO:0030843

Also known as:MMRCS4PMS2-related constitutional mismatch repair deficiency syndrome

Overview

An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the PMS2 mismatch repair gene. It is characterized by a high risk of childhood cancers, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis.

GeneticsAutosomal recessive · PMS2 (chr 7)

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Agenesis of corpus callosum; and common findings: Astrocytoma and Gray matter heterotopia. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	1	Non-Hodgkin lymphoma

Explore clinical features

Genetic Landscape

PMS2 function has not been fully characterized.

Mismatch repair cancer syndrome 4 is associated with mutations in the PMS2 gene on chromosome 7.

Diagnosis

Genetic testing for PMS2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for mismatch repair cancer syndrome 4.

4 publications have been identified in PubMed for mismatch repair cancer syndrome 4. Research spans Case Report / Case Series (75%) and Review / Meta-Analysis (25%).

Recent Publications

Vazzano Goldstone J (2026). [PMID: 41572278](https://pubmed.ncbi.nlm.nih.gov/41572278/). *Diagn Pathol*. [Review / Meta-Analysis]
Erbağcı A (2026). [PMID: 41886087](https://pubmed.ncbi.nlm.nih.gov/41886087/). *Childs Nerv Syst*. [Case Report / Case Series]
Massett M (2025). [PMID: 40743633](https://pubmed.ncbi.nlm.nih.gov/40743633/). *Cancer Genet*. [Case Report / Case Series]
Chattannavar G (2025). [PMID: 40415278](https://pubmed.ncbi.nlm.nih.gov/40415278/). *Ophthalmic Genet*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619101

GARD

Genetic and Rare Diseases Info Center

GARD:18364

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

mismatch repair cancer syndrome 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Distinct mutational signature and clonal evolution in constitutional mismatch repair deficiency-associated high-grade gliomas.

mismatch repair cancer syndrome 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Distinct mutational signature and clonal evolution in constitutional mismatch repair deficiency-associated high-grade gliomas.