Association between germline HOXB13 G84E mutation and risk of prostate cancer

Mohammad R. Akbari, John Trachtenberg, Justin Lee, Stephanie Tam, Robert Bristow, Andrew Loblaw, Steven A. Narod, Robert K. Nam

Research output: Contribution to journalArticlepeer-review


Recently, a G84E mutation in HOXB13, a gene involved in prostate development, was shown to be strongly associated with an increased risk of prostate cancer. To confirm this association in a screening setting, we conducted a casecontrol study and sequenced germline DNA from peripheral leukocytes of 1843 men diagnosed with prostate cancer (case subjects) and 2225 men without prostate cancer (control subjects) for mutations in HOXB13. Subjects (aged 4094 years) were prescreened and underwent a prostate biopsy at two tertiary care centers in Canada. The frequency of HOXB13 variants was determined in case subjects and control subjects by race, and odds ratios and 95% confidence intervals were based on 2×2 table analysis. All statistical tests were two-sided. Twelve men of white race were identified to be carriers of the G84E mutation. The G84E mutation was more frequent among white case subjects than among white control subjects (10 of 1525 [0.7%] vs 2 of 1757 [0.1%], P = .01) and was associated with an increased risk of prostate cancer (unadjusted odds ratio = 5.8, 95% confidence interval = 1.3 to 26.5, P = .01).

Original languageEnglish
Pages (from-to)1260-1262
Number of pages3
JournalJournal of the National Cancer Institute
Issue number16
Publication statusPublished - Aug 2012


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