If you inherit mutations, or changes, in this gene, it won’t function like it should. Everyone has two copies of the MUTYH gene, one that they acquire from each of their parents. People with mutations in both copies of the gene have what’s known as MUTYH-associated polyposis syndrome (MAP). You’ll be asked to provide a blood or saliva sample that will be analyzed in a lab. Your doctor might recommend genetic testing if someone in your family has an MUTYH mutation, you develop colorectal cancer, you have multiple polyps, or you have other risk factors. It’s a good idea to meet with a genetic counselor before being tested. This professional can assess your family history and help you understand how the test works. (1) It’s important to remember that you need to have a mutation in both copies of the gene to develop MAP. If you have just one copy of a MUTYH gene mutation, you’re known as a “carrier.” You won’t have MAP, but you might be at slightly elevated risk for colon cancer. What’s more, your children may be at risk for developing MAP if your partner is also a carrier. If both parents are carriers of a MUTYH mutation, each of their children has a 25 percent chance of inheriting two mutations. (2) Studies show as many as 1 in every 100 people may carry a single mutation in the MUTYH gene. (2) The American Society of Clinical Oncology recommends that people with MAP should have colonoscopies every one to two years, starting at age 25 to 30. (2) You might also undergo upper endoscopies, ultrasounds, and other imaging procedures more often.
