The Prevalence of the HOXB13 G84E Prostate Cancer Risk Allele in Men Treated with Radical Prostatectomy
Beebe-Dimmer J, Isaacs WB, Zuhlke KA, Yee C, Walsh PC, Isaacs SD, Johnson AM, Ewing CE, Humphreys EB, Chowdhury WH, Montie JE, Cooney KA. BJU Int. 2013 Oct 21. doi: 10.1111/bju.12522. [Epub ahead of print]


Wayne State University Department of Oncology, Detroit MI 48201; Barbara Ann Karmanos Cancer Institute Population Studies and Disparities Research Program, Detroit MI 48201.


OBJECTIVES: To determine the prevalence and clinical correlates of the G84E mutation in the homeobox transcription factor (or HOXB13) gene using DNA samples from 9,559 men with prostate cancer undergoing radical prostatectomy.

PATIENTS AND METHODS: DNA samples from men treated with radical prostatectomy at the University of Michigan and John Hopkins University were genotyped for G84E and confirmed by Sanger sequencing. The frequency and distribution of this allele was determined according to specific patient characteristics (family history, age at diagnosis, pathologic Gleason grade and stage).

RESULTS: 128 of 9,559 patients were heterozygous carriers of G84E (1.3%). Patients who possessed the variant were more likely to have a family history of prostate cancer (46.0% vs. 35.4% p=0.006). G84E carriers were also more likely diagnosed at a younger age compared to non-carriers (55.2 years vs. 58.1 years; p<0.0001). No difference in the proportion of patients diagnosed with high-grade or advanced stage tumors by carrier status was observed.

CONCLUSION: In our study, carriers of the rare G84E variant in HOXB13 were both younger at the time of diagnosis and more likely to have a family history of prostate cancer compared to homozygotes for the wild-type allele. No significant differences in allele frequency were detected according to select clinical characteristics of prostate cancer. Further investigation is required to evaluate the role of HOXB13 in prostate carcinogenesis.