Karina Dalsgaard Sørensen

Prevalence of the HOXB13 G84E mutation in Danish men treated by radical prostatectomy and correlations with prostate cancer risk and aggressiveness

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OBJECTIVE: To determine the prevalence of the HOXB13 G84E mutation (rs138213197) in Danish men with/without prostate cancer (PC) and to investigate possible correlations between HOXB13 mutation status and clinicopathological parameters associated with tumor aggressiveness.

MATERIALS AND METHODS: Case-control study including 995 men with PC (cases) who underwent radical prostatectomy (RP) between 1997 and 2011 at the Department of Urology, Aarhus University Hospital, Denmark. As controls, we used 1622 healthy male controls with normal prostate specific antigen (PSA) level.

RESULTS: The HOXB13 G84E mutation was identified in 0.49% of controls and in 2.51% of PC cases. The mutation was associated with a 5.12-fold increased relative risk of PC (95% confidence interval [CI]=2.26-13.38; p=13×10-6). Furthermore, carriers of the risk allele were significantly more likely to have a higher PSA level at diagnosis (mean 19.9 vs. 13.6 ng/ml; p=0.032), pathological Gleason score ≥7 (83.3% vs. 60.9%; p =0.032), and positive surgical margins (56.0% vs. 28.5%; p=0.006) than non-carriers. Risk allele carriers were also more likely to have aggressive disease (54.2% vs. 28.6%; p=0.011), as defined by preoperative PSA ≥20 ng/ml, pathological Gleason score ≥ (4+3) and/or presence of regional/distant disease. At 70 months mean follow-up, we found no significant association between HOXB13 mutation status and biochemical recurrence in this RP cohort.

CONCLUSION: This is the first study to investigate the HOXB13 G84E mutation in Danish males. The mutation was detected in 0.49% of controls and in 2.51% of cases, and was associated with 5.12-fold increased relative risk of being diagnosed with PC. In our RP cohort, HOXB13 mutation carriers were more likely to develop aggressive PC. Further studies are needed to assess the potential of HOXB13 for future targeted screening approaches. This article is protected by copyright. All rights reserved.

Original languageEnglish
JournalB J U International (Online)
Pages (from-to)646-653
Number of pages8
Publication statusPublished - 1 Oct 2016

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