Mismatch repair cancer syndrome 1
Mismatch repair cancer syndrome 1
Definition
An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MLH1 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 brain tumor-polyposis syndrome 1, BTP1 syndrome, mismatch repair cancer syndrome 1, MLH1-related constitutional mismatch repair deficiency syndrome, MMRCS1, Turcot Syndrome — per MONDO