Mismatch repair cancer syndrome

MONDO:0031219

A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1.

Also known as: constitutional mismatch repair deficiency syndrome

39 clinical trials for this condition and its sub-types, 5 tagged with Mismatch repair cancer syndrome itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →
Sort by