MUTYH-associated polyposis

MUTYH-associated polyposis

An autosomal recessive colorectal cancer syndrome (OMIM:604933) caused by bi-allelic, MUTYH-inactivating germline mutations. Gene carriers develop 10–500 polyps up to the fifth decade of life and may present thereafter with colorectal cancer.
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MUTYH-associated polyposis (MAP) is an autosomal recessive syndrome associated with biallelic germline mutations in the base excision repair gene MUTYH (OMIM #608456) (1).