The AXIN2 Gene and Cancer Risk

AXIN2 is a gene that you inherit from your parents. If you develop changes, or mutations, in this gene, it won’t function the way it should.

Defects in the AXIN2 gene may increase your risk of: (1,2,3)

• Polyposis Polyposis causes polyps (abnormal growths) to develop in your digestive tract. Polyps may develop into colon cancer.
• Colon cancer Colon cancer is a type of cancer that starts in the colon, which is located at the lower end of your digestive tract.
• Oligodontia People with this rare genetic disorder are missing six or more primary or permanent teeth. When someone with oligodontia also develops colon cancer or precancerous lesions because of a genetic mutation, it’s known as oligodontia-colorectal cancer syndrome.

AXIN2 helps regulate the stability of a protein called beta-catenin in what’s known as the Wnt signaling pathway. The deregulation of beta-catenin can lead to the development of cancer. (1)

Yes, you can take a genetic test to see if you have an AXIN2 mutation. Sometimes this test is given as part of a broader genetic screening process.

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 AXIN2 mutation, if you have been missing many teeth since birth, if you develop another AXIN2-related disease (such as polyposis or colon cancer), or you have other risk factors.

It might be helpful to meet with a genetic counselor before being tested. This professional can assess your family history and help you understand how the test works. (4)

Identifying an AXIN2 mutation may provide you with information about your cancer odds. You can also alert other family members about their risk.

Someone with an AXIN2 defect has a 50 percent chance of passing the mutation on to each of their children.

While many cases are inherited, some mutations occur spontaneously, without a parent having the variant.

If you have an AXIN2 mutation, it doesn’t mean that you will definitely develop cancer. Your risk is just higher than those in the general population. (4)

In 2004, a group of researchers identified a Finnish family with severe oligodontia and colorectal cancer.

Eleven of the family members they studied lacked at least eight permanent teeth, and two of them had only three permanent teeth. Eight of the participants with missing teeth developed colorectal cancer or precancerous lesions.

The scientists concluded that this phenomenon was caused by AXIN2 mutations. (5,6)

Identifying an AXIN2 mutation can help you and your doctor plan prevention strategies. You might need to undergo earlier and more frequent cancer screenings.

The National Comprehensive Cancer Network (NCCN) recommends the following for people with an AXIN2 mutation:

• Colonoscopies beginning at age 25 to 30, which are repeated every two to three years if negative
• Colonoscopies every one to two years if polyps are found. If polyps become unmanageable, surgery should be considered.
• Surgical evaluation if appropriate

Your doctor can explain your options in detail. (7)