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mismatch repair cancer syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mismatch repair cancer syndrome 2

MONDO:0030840

Also known as:MMRCS2MSH2-related constitutional mismatch repair deficiency syndrome

Overview

An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MSH2 mismatch repair gene. It is characterized by a high risk of many different types of childhood cancers, including hematological malignancies, brain tumors, intestinal polyposis, and colon cancer.

GeneticsAutosomal recessive · MSH2 (chr 2)

Clinical Presentation

Features include: Colon cancer, T-cell acute lymphoblastic leukemias, Glioblastoma multiforme, and Multiple cafe-au-lait spots.

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Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MSH2 encodes mutS homolog 2 (934 aa). Component of the post-replicative DNA mismatch repair system (MMR). Highest expression in Cells EBV-transformed lymphocytes (34.5 TPM) and Brain Cerebellar Hemisphere (23.4 TPM).

Mismatch repair cancer syndrome 2 is associated with mutations in the MSH2 gene on chromosome 2.

The MSH2 protein participates in Defective Mismatch Repair Associated With MSH2, Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha), and Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) pathways.

MSH2 is classified as a druggable target (Clinically Actionable and Dna Repair categories) with score 6.5.

Diagnosis

Genetic testing for MSH2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for mismatch repair cancer syndrome 2 has been reported in the published literature.

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 2.

69 publications have been identified in PubMed for mismatch repair cancer syndrome 2. Research spans Case Report / Case Series (30%), Basic Science / Preclinical (19%), and Epidemiology / Natural History (19%).

Research Type	Count	% of Total
Patient case studies	21	30%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 12:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619096

GARD

Genetic and Rare Diseases Info Center

GARD:18362

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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mismatch repair cancer syndrome 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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