HOXB13 Gene Mutations




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Additional Information

HOXB13 gene

Associated Syndrome Name: HOXB13-associated Cancer Risk (Men only)

HOXB13 Summary Cancer Risk Table

Cancer Genetic Cancer Risk
ProstateHigh Risk

HOXB13 gene Overview

HOXB13-associated Cancer Risk (Men only) 1, 2, 3, 4, 5
  • Men with the HOXB13 variant identified in this individual have been shown to have a greatly increased risk for prostate cancer. Risks appear to be highest in men with a family history of prostate cancer.
  • All of the studies to date have focused on men of European ancestry, so there is not enough evidence yet to know if this variant in HOXB13 leads to an increased risk for prostate cancer in men of other ancestries.
  • Some studies have shown that men with this variant in HOXB13 are more likely to be diagnosed with prostate cancer at younger ages than men in the general population.
  • At this time there are no established cancer risks for women with this variant or other variants in HOXB13.
  • Although there are high cancer risks for men with this variant in HOXB13, there may be interventions that can reduce these risks. The initial guidelines from the Philadelphia Prostate Cancer Consensus Conference are listed below. Since it is likely that these guidelines will change as we learn more about the cancer risks associated with this variant in HOXB13, it may be appropriate to interpret these results in consultation with cancer genetics professionals who have expertise in this emerging area of knowledge.

HOXB13 gene Cancer Risk Table

Cancer Type Age Range Cancer Risk Risk for General Population
ProstateTo age 801, 2, 4, 5, 622%-52%10.9%

HOXB13 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)
ProstateRecommend prostate cancer screening.340 years, or 10 years younger than the earliest prostate cancer diagnosis in the familyAnnually, or adjusted based on results from first PSA screen

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 HOXB13 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.

At this time, there are no known cancer risks for women due to mutations in HOXB13.


  1. Cai Q, et al. Germline HOXB13 p.Gly84Glu mutation and cancer susceptibility: a pooled analysis of 25 epidemiological studies with 145,257 participates. Oncotarget. 2015 6:42312-21. PMID: 26517352.
  2. Witte JS, et al. HOXB13 mutation and prostate cancer: studies of siblings and aggressive disease. Cancer Epidemiol Biomarkers Prev. 2013 22:675-80. PMID: 23396964.
  3. Giri VN, et al. Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017. J Clin Oncol. 2018 36:414-424. PMID: 29236593.
  4. Beebe-Dimmer JL, et al. The HOXB13 G84E Mutation Is Associated with an Increased Risk for Prostate Cancer and Other Malignancies. Cancer Epidemiol Biomarkers Prev. 2015 24:1366-72. PMID: 26108461.
  5. Stott-Miller M, et al. HOXB13 mutations in a population-based, case-control study of prostate cancer. Prostate. 2013 73:634-41. PMID: 23129385.
  6. Fast Stats: An interactive tool for access to SEER cancer statistics. Surveillance Research Program, National Cancer Institute. https://seer.cancer.gov/faststats. (Accessed on 1-2-2017)
Last Updated on 10-Dec-2020