mismatch repair cancer syndrome

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mismatch repair cancer syndrome2016-11-27T07:51:22+00:00

mismatch repair cancer syndrome 

ONCOLOGY

An autosomal recessive disorder (OMIM:276300) 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., MLH1MSH2MSH6, and PMS2, which encode enzymes that repair mismatched bases in DNA, cause mismatch repair cancer syndrome. 

Synonyms Brain tumor-polyposis syndrome 1, BTPS1, MMRCS, Turcot syndrome 

References http://www.omim.org/entry/276300

http://www.uniprot.org/uniprot/P40692

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