mismatch repair cancer syndrome


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mismatch repair cancer syndrome

An autosomal recessive disorder (OMIM:276300) which is characterised by malignant tumours of the brain associated with multiple colorectal adenomas and skin lesions (sebaceous cysts, hyperpigmented and cafe au lait spots).
 
Molecular pathology
Defects in certain genes (e.g., MLH1, MSH2, MSH6 and PMS2), which encode enzymes that repair mismatched bases in DNA, cause mismatch repair cancer syndrome.