Testing for the recurrent HOXB13 G84E germline mutation in men with clinical indications for prostate biopsy - Abstract

PURPOSE: The G84E variant of HOXB13was recently found to be associated with a significantly increased risk of prostate cancer in a case control study.

We estimated the prevalence of this mutation in a clinical population of men at risk for prostate cancer scheduled to undergo prostate biopsy.

MATERIALS AND METHODS: We prospectively collected clinical information and DNA samples from men undergoing diagnostic prostate biopsy between June 2005 and October 2011. We genotyped samples for HOXB13G84E using the MassARRAY system. We determined the prevalence of the G84E variant in the overall cohort, among patients with positive family history (FH), and among men age 55 years or younger.

RESULTS: 1175 subjects underwent biopsy, of which 948 had a DNA sample for analysis. Four patients had the G84E variant detected [prevalence 0.42%, 95% confidence interval (CI) 0.12% - 1.08 %], of which three had prostate cancer on biopsy. None of 301 patients with a positive FH (prevalence 0.00%, 95% CI 0.00% - 1.2 2%) and one of 226 subjects age 55 years or younger tested positive (prevalence 0.44%, 95% CI 0.01% - 2.44%).

CONCLUSION: The HOXB13G84E variant is rare in this cohort, even in those with a positive family history. Our findings question the utility of testing for this variant among unselected men presenting for a diagnostic prostate biopsy.

Written by:
Schroeck FR, Zuhlke KA, Siddiqui J, Siddiqui R, Cooney KA, Wei JT.   Are you the author?
Division of Health Services Research, University of Michigan Medical School, Ann Arbor, MI; Division of Oncology, Department of Urology, University of Michigan Medical School, Ann Arbor, MI.

Reference: J Urol. 2012 Oct 1. pii: S0022-5347(12)05111-7.
doi: 10.1016/j.juro.2012.09.117


PubMed Abstract
PMID: 23036981

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