Mismatch repair cancer syndrome 4

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.

Also known as: MMRCS4, PMS2-related constitutional mismatch repair deficiency syndrome, mismatch repair cancer syndrome 4

3 clinical trials for this condition and its sub-types, 0 tagged with Mismatch repair cancer syndrome 4 itself.