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

Journal Article (Journal Article)

PURPOSE: The G84E variant of HOXB13 was 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 who were scheduled to undergo prostate biopsy. MATERIALS AND METHODS: We prospectively collected clinical information and DNA samples from men who underwent diagnostic prostate biopsy between June 2005 and October 2011. We genotyped samples for HOXB13 G84E using the MassARRAY® system. We determined the prevalence of the G84E variant in the overall cohort, among patients with a positive family history and among men age 55 years or younger. RESULTS: A total of 1,175 subjects underwent biopsy, of whom 948 had a DNA sample for analysis. The G84E variant was detected in 4 patients (prevalence 0.42%, 95% CI 0.12-1.08), of whom 3 had prostate cancer on biopsy. None of 301 patients with a positive family history (prevalence 0.00%, 95% CI 0.00-1.22) and 1 of 226 patients age 55 years or younger tested positive (prevalence 0.44%, 95% CI 0.01-2.44). CONCLUSIONS: The HOXB13 G84E variant is rare in this cohort, even among 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.

Full Text

Duke Authors

Cited Authors

  • Schroeck, FR; Zuhlke, KA; Siddiqui, J; Siddiqui, R; Cooney, KA; Wei, JT

Published Date

  • March 2013

Published In

Volume / Issue

  • 189 / 3

Start / End Page

  • 849 - 853

PubMed ID

  • 23036981

Pubmed Central ID

  • PMC4193792

Electronic International Standard Serial Number (EISSN)

  • 1527-3792

Digital Object Identifier (DOI)

  • 10.1016/j.juro.2012.09.117


  • eng

Conference Location

  • United States