Interpretive Handbook

Test 62461 :
HOXB13 Mutation Analysis (G84E)

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

The HOXB13 gene is a homeobox transcription factor involved in normal prostate development and is a key determinant in response to androgens. Recently, a novel germline mutation in the HOXB13 gene, G84E, has been found to be associated with up to a 3- to 5-fold increased risk of prostate cancer. The G84E mutation has been shown to be overrepresented in the disease population, and carriers of the G84E mutation may develop prostate cancer at an earlier age than noncarriers. However, the G84E mutation has been seen in both family members with prostate cancer and in healthy relatives, indicating reduced penetrance. Also, in families carrying the G84E mutation, prostate cancer has been reported in nonmutation carriers.

Useful For Suggests clinical disorders or settings where the test may be helpful

Determining whether the clinical phenotype of prostate cancer is due to the G84E mutation in the HOXB13 gene in the affected individual


Predictive testing and familial risk assessment when the G84E mutation in the HOXB13 gene has been identified in an affected family member

Interpretation Provides information to assist in interpretation of the test results

An interpretive report will be provided.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This assay will not detect all of the mutations that cause hereditary prostate cancer. Therefore, the absence of detectable mutations does not rule out the possibility of a hereditary form of prostate cancer. Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete. Rare polymorphisms exist that could lead to false-negative results.


A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Clinical References Provides recommendations for further in-depth reading of a clinical nature

1. Ewing CM, Ray AM, Lange EM, et al: Germline mutations in HOXB13 and prostate-cancer risk. N Engl J Med 2012;366:141-149

2. Xu J, Lange EM, Lu L, et al: HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG). Hum Genet 2013;132:5-14