Mutations in the AXIN2 gene are often linked with oligodontia-colorectal cancer syndrome. This syndrome causes colon and gastric polyps which may lead to an increased risk of colorectal cancer. It is recommended that those who have a mutation in this gene get a colonoscopy every 2-3 years beginning between the ages of 25 and 30. If polyps are found, frequency of colonoscopy should be increased to every 1-2 years and other options, such as surgical ones, should be considered. AXIN2 mutations are inherited in an autosomal dominant manner; therefore each child of a person with the mutation is at 50% risk for having inherited the disease causing mutation. Due to the variability of onset of polyposis, the patient’s siblings and their offspring may still be at risk for the condition.
In addition to the GI concerns, individuals with mutations in AXIN2 tend to have oligodontia which is defined as a person missing 6 or more permanent teeth. Individuals can also have sparse or no hair on their body including their scalp and face.
PMID: 15042511, 21416598, 21626677