GALNT12 Gene Mutations




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Additional Information

GALNT12 gene

Associated Syndrome Name: GALNT12-associated Cancer Risk

GALNT12 Summary Cancer Risk Table

Cancer Genetic Cancer Risk
ColorectalElevated Risk

GALNT12 gene Overview

GALNT12-associated Cancer Risk 1, 2, 3, 4
  • Mutations in GALNT12 have been found in individuals and families with a history of colorectal polyps and colorectal cancer.
  • There is evidence that some individuals with GALNT12 mutations have a moderately increased risk for colorectal cancer. The exact size of this risk is not known.
  • There are currently no guidelines for the medical management of individuals with mutations in GALNT12. Since information about the cancer risks associated with GALNT12 mutations is relatively new, and there is uncertainty about the best ways to reduce these risks, it may be appropriate to interpret these results in consultation with cancer genetics professionals who have expertise in this emerging area of knowledge.

GALNT12 gene Cancer Risk Table

Cancer Type Age Range Cancer Risk Risk for General Population
ColorectalTo age 801, 2, 3, 4, 5Elevated risk3.0%

GALNT12 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)
ColorectalCurrently there are no medical management guidelines for colorectal cancer risk in mutation carriers. However, the possibility of an increased risk for colorectal cancer may warrant consideration of individualized risk-reduction strategies, such as the modification of standard population screening recommendations by starting screening at younger ages and/or performing screenings at greater frequency.6NANA

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 GALNT12 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. Guda K, et al. Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers. Proc Natl Acad Sci U S A. 2009 4:12921-5. PMID: 19617566.
  2. Clarke E, et al. Inherited deleterious variants in GALNT12 are associated with CRC susceptibility. Hum Mutat. 2012 33:1056-8. PMID: 22461326.
  3. Lorca V, et al. Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome. PLoS One. 2017 12:e0187312. PMID: 29095867.
  4. Evans DR, et al. Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer. Hum Mutat. 2018 39:1092-1101. PMID: 29749045.
  5. Fast Stats: An interactive tool for access to SEER cancer statistics. Surveillance Research Program, National Cancer Institute. (Accessed on 1-2-2017)
  6. Provenzale D, et al. NCCN Clinical Practice Guidelines in Oncology® Colorectal Cancer Screening. V 2.2019. Aug 2. Available at
Last Updated on 10-Dec-2020