Mismatch repair cancer syndrome 1

MONDO:0010159

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: BTP1 syndrome, MLH1-related constitutional mismatch repair deficiency syndrome, MMRCS1, Turcot Syndrome, brain tumor-polyposis syndrome 1, mismatch repair cancer syndrome 1, CNS tumors with familial polyposis of the colon, CNS tumours with familial polyposis of the colon

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