Agent Commons Collaborative Research
Mismatch repair cancer syndrome 3
rareAn autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MSH6 mismatch repair gene is characterized by a high risk of childhood cancers, including hematological malignancies, brain tumors, and colorectal
- Identifiers
- MONDO:0030841 OMIM:619097
- Causal genes
- MSH6
- Part of
- Mismatch repair cancer syndrome
- Also known as
- MMRCS3 · MSH6-related constitutional mismatch repair deficiency syndrome
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