MUTYH-Associated Polyposis

MUTYH-Associated Polyposis (MAP) is an inherited cancer predisposition syndrome characterized by multiple colorectal adenomatous polyps and a significantly increased risk of colorectal cancer. Unlike familial adenomatous polyposis (FAP), which is autosomal dominant, MAP is inherited in an autosomal recessive manner, meaning both copies of the MUTYH gene must be mutated for the condition to manifest.

Individuals with MAP typically develop between 10 and several hundred colorectal adenomatous polyps, though this is usually fewer than the classic form of FAP. The average age of polyp development is in the mid-40s, later than in FAP. Without surveillance and intervention, the lifetime risk of colorectal cancer approaches 100%, with cancer typically developing in the 40s to 50s.

In addition to colorectal cancer, MAP is associated with increased risks of duodenal cancer, ovarian cancer, bladder cancer, thyroid cancer, and skin tumors. Some individuals may develop colorectal cancer without apparent polyposis, making genetic testing important in families with unexplained colorectal cancer.

MAP is caused by biallelic (both copies) mutations in the MUTYH gene, which is involved in base excision repair—a DNA repair mechanism that fixes damage caused by oxidation. Carriers of a single MUTYH mutation (heterozygotes) have a modestly increased colorectal cancer risk. Regular colonoscopy surveillance starting in the mid-20s is recommended for individuals with MAP.

NutraHacker examines the following gene related to MUTYH-Associated Polyposis:

• MUTYH

For more information about your own genetic profile as related to MUTYH-Associated Polyposis, please check out our NutraHacker WGS Critical Genetics Report.

Or to get going without any further delay, upload WGS raw DNA data and find out more about your critical genetics profile today.