MUTYH-associated polyposis

MUTYH-associated polyposis is an autosomal recessive polyposis syndrome. The disorder is caused by mutations in both alleles (genetic copies) of the DNA repair gene, MUTYH. The MUTYH gene encodes a base excision repair protein, which corrects oxidative damage to DNA. Affected individuals have an increased risk of colorectal cancer, precancerous colon polyps (adenomas) and an increased risk of several additional cancers. About 1–2 percent of the population possess a mutated copy of the MUTYH gene, and less than 1 percent of people have the MUTYH associated polyposis syndrome.

MUTYH-associated polyposis
SpecialtyMedical genetics

Epidemiology

Without surveillance or screening, about 43% to nearly 100% of individuals with MUTYH-associated polyposis develop colorectal cancer.[1]

References

  1. Nielsen, Maartje; Lynch, Henry; Infante, Elena; Brand, Randall. "MUTYH-Associated Polyposis". NCBI. GeneReviews.
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