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.
References in periodicals archive ?
MUTYH-associated polyposis (MAP) is an autosomal recessive syndrome associated with biallelic germline mutations in the base excision repair gene MUTYH (OMIM #608456) (1).
Multiplex tetra-primer amplification refractory mutation system PCR to detect 6 common germline mutations of the MUTYH gene associated with polyposis and colorectal cancer
Medical browser ?
Full browser ?