MUTYH-associated polyposis

MUTYH-associated polyposis (MAP) is a condition characterized by the development of multiple adenomatous polyps in the colon and the rectum. It is a type of hereditary colorectal cancer syndrome and is caused by mutations in the MUTYH gene.

Signs and Symptoms

People with MAP often develop fewer than 100 adenomatous polyps, but the exact number can vary widely. The polyps are generally found in individuals in their forties. If the polyps are not removed, they can become cancerous. Other signs and symptoms of MAP can include osteomas (benign bone tumors), dental abnormalities, desmoid tumors, and duodenal polyps or cancer.

Genetics

MAP is caused by mutations in the MUTYH gene. This gene provides instructions for making a protein that is involved in DNA repair. Specifically, the MUTYH protein fixes mistakes that are made when DNA is copied (DNA replication) in preparation for cell division. Mutations in the MUTYH gene prevent the protein from repairing mistakes made during DNA replication. As a result, unrepaired DNA can lead to more mutations in other genes and the formation of polyps.

Diagnosis

The diagnosis of MAP is considered in individuals with multiple adenomatous polyps and a family history of polyps or colorectal cancer. Genetic testing for mutations in the MUTYH gene can confirm the diagnosis.

Treatment

The treatment for MAP involves regular colonoscopies to detect and remove polyps before they become cancerous. In some cases, surgery to remove the entire colon and rectum may be necessary.

See Also

• Colorectal cancer
• Adenomatous polyps
• Hereditary colorectal cancer syndromes
• MUTYH

References

MUTYH-associated polyposis Resources
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