Mismatch repair cancer syndrome 2
Mismatch repair cancer syndrome 2
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.
Also known as mismatch repair cancer syndrome 2, MMRCS2, MSH2-related constitutional mismatch repair deficiency syndrome — per MONDO