MUTYH-associated polyposis

MUTYH-associated polyposis (also known as MYH-associated polyposis) is an autosomal recessive polyposis syndrome.[1] 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
Other namesMYH-associated polyposis
SpecialtyMedical genetics, gastroenterology
ComplicationsColorectal cancer
CausesDNA repair gene mutation
Diagnostic methodColonoscopy
Differential diagnosisFamilial adenomatous polyposis, Lynch syndrome
TreatmentColonoscopy
Polypectomy
Frequency<1%

Epidemiology

Without surveillance or screening, between 43% and 100% of individuals with MUTYH-associated polyposis develop colorectal cancer.[2]

References
  1. Tomlinson, Ian (April 2015). "An update on the molecular pathology of the intestinal polyposis syndromes". Diagnostic Histopathology. 21 (4): 147–151. doi:10.1016/j.mpdhp.2015.04.006.
  2. Nielsen, Maartje; Lynch, Henry; Infante, Elena; Brand, Randall. "MUTYH-Associated Polyposis". NCBI. GeneReviews.
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