Mismatch repair cancer syndrome 2

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.

Also known as: MMRCS2, MSH2-related constitutional mismatch repair deficiency syndrome, mismatch repair cancer syndrome 2

3 clinical trials for this condition and its sub-types.