Mismatch repair cancer syndrome 4
Mismatch repair cancer syndrome 4
Definition
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 mismatch repair cancer syndrome 4, MMRCS4, PMS2-related constitutional mismatch repair deficiency syndrome — per MONDO