AXIN2 Gene Mutations




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Additional Information

AXIN2 gene

Associated Syndrome Name: AXIN2-associated Cancer Risk

AXIN2 Summary Cancer Risk Table

Cancer Genetic Cancer Risk
ColorectalElevated Risk

AXIN2 gene Overview

AXIN2-associated Cancer Risk 1, 2, 3, 4, 5
  • Mutations in AXIN2 have been found in families where many individuals have large numbers of colorectal polyps and/or colorectal cancer. Individuals with AXIN2 mutations are believed to have a significantly increased risk for colorectal cancer, but the exact risk is not known.
  • The colorectal polyps in individuals with AXIN2 mutations may be of different types, including adenomas and hyperplastic polyps.
  • Individuals with AXIN2 mutations may also have missing adult teeth (oligodontia) and reduced amounts of hair on the skin and scalp.
  • Although there is an increased risk for colorectal cancer in individuals with mutations in AXIN2, it may be possible to reduce this risk with appropriate medical management. Guidelines for the medical management of patients with AXIN2 mutations have been developed by the National Comprehensive Cancer Network (NCCN). These are listed below. These guidelines will evolve as we learn more about individuals with AXIN2 mutations, and it is recommended that patients with a mutation be managed by a multidisciplinary team with expertise in medical genetics and the care of patients with hereditary cancer syndromes.

AXIN2 gene Cancer Risk Table

Cancer Type Age Range Cancer Risk Risk for General Population
ColorectalTo age 801, 2, 6Elevated risk3.0%

AXIN2 Cancer Risk Management Table

The overview of medical management options provided is a summary of professional society guidelines. The most recent version of each guideline should be consulted for more detailed and up-to-date information before developing a treatment plan for a particular patient.

This overview is provided for informational purposes only and does not constitute a recommendation. While the medical society guidelines summarized herein provide important and useful information, medical management decisions for any particular patient should be made in consultation between that patient and his or her healthcare provider and may differ from society guidelines based on a complete understanding of the patient’s personal medical history, surgeries and other treatments.

Cancer Type Procedure Age to Begin Frequency
(Unless otherwise indicated by findings)
ColorectalColonoscopy325 to 30 yearsEvery 2 to 3 years
Colorectal surgical evaluation and counseling.3Based on cancer diagnosis and/or polyp number, size and histologyNA

Information for Family Members

The following information for Family Members will appear as part of the MMT for a patient found to have a mutation in the AXIN2 gene.

A major potential benefit of myRisk genetic testing for hereditary cancer risk is the opportunity to prevent cancer in relatives of patients in whom clinically significant mutations are identified. Healthcare providers have an important role in making sure that patients with clinically significant mutations are informed about the risks to relatives, and ways in which genetic testing can guide lifesaving interventions.


  1. Rohlin A, et al. Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. Fam Cancer. 2017 16):195-203. PMID: 27696107.
  2. Lammi L, et al. Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet. 2004 74:1043-50. PMID: 15042511.
  3. Provenzale D, et al. NCCN Clinical Practice Guidelines in Oncology® Genetic/Familial High-Risk Assessment: Colorectal. V 3.2019. Dec 13. Available at
  4. Rivera B, et al. A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia. Eur J Hum Genet. 2014 22:423-6. PMID: 23838596.
  5. Marvin ML, Mazzoni SM, Herron CM, Edwards S, Gruber SB, et al. AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome. Am J Med Genet A. 2011 155A:898-902. PMID: 21416598.
  6. Fast Stats: An interactive tool for access to SEER cancer statistics. Surveillance Research Program, National Cancer Institute. (Accessed on 1-2-2017)
Last Updated on 10-Dec-2020