mismatch repair cancer syndrome 2
Findings
No curated finding names mismatch repair cancer syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0030840), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Colon cancerHPOHP:0003003
- Glioblastoma multiformeHPOHP:0012174
- Multiple cafe-au-lait spotsHPOHP:0007565
- T-cell acute lymphoblastic leukemiasHPOHP:0006727
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MSH2HGNC:7325
- Definitive · G2P · Autosomal recessive · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: mismatch repair cancer syndrome 2
- Also called
- MMRCS2MSH2-related constitutional mismatch repair deficiency syndrome