Pathogenic variants (disease-causing) in the AXIN2 gene are associated with an increased risk of colorectal cancer and oligodontia-colorectal cancer syndrome, a condition characterized by missing teeth (oligodontia) along with a predisposition to colorectal cancer. Individuals with pathogenic variants in AXIN2 may develop colorectal polyps and have a higher lifetime risk of colorectal cancer compared to the general population. Management of AXIN2–related tumor risk includes regular surveillance tailored to guidelines to detect tumors and polyps early. AXIN2 variants are not known to be more common in the Ashkenazi Jewish population.
Pathogenic variants in AXIN2 exhibit autosomal dominant inheritance. This means there is a 50% chance the condition can be passed from generation-to-generation. First degree relatives (parents, siblings, children) have a 50% chance to have the same pathogenic variant whereas second degree relatives (grandparents, aunts/uncles, nieces/nephews, half-siblings) have a 25% chance. More distant relatives have lower chances of having the same pathogenic variant when one is identified in the family.
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Written December 2025
