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Gs314

From SNPedia
Gs314
Magnitude 6
Repute Bad
Summary MUTYH-associated polyposis (and colon cancer risk)
Criteria Gs314/criteria


MUTYH-associated polyposis (MAP) is an adult-onset colorectal cancer predisposition syndrome characterized by the growth of many adenomatous colorectal polyps, typically becoming apparent by a person's mid-40's. Individuals with MAP have a 43–100% lifetime risk of developing colorectal cancer and may be at higher risk for other cancers.

This genoset is based on seeing both of the most common MUTYH mutations, Tyr179Cys and Gly396Asp, each in one copy. It is likely that the two mutations are on different chromosomes (i.e. one inherited maternally, and the other paternally), but in unphased data, this is not guaranteed, so even if it is unlikely, it is possible that a person positive for this genoset is carrying a single normal copy of the MUTYH gene (and their other MUTYH gene copy harbors both mutations).