Association Between Germline HOXB13 G84E Mutation and Risk of Prostate Cancer

• Published in: JNCI : Journal of the National Cancer Institute Vol. 104; no. 16; pp. 1260 - 1262
• Main Authors: AKBARI, Mohammad R, TRACHTENBERG, John, LEE, Justin, TAM, Stephanie, BRISTOW, Robert, LOBLAW, Andrew, NAROD, Steven A, NAM, Robert K
• Format: Journal Article
• Language: English
• Published: Cary, NC Oxford University Press 22.08.2012; Oxford Publishing Limited (England)
• Subjects: Adult; Aged; Aged, 80 and over; Biological and medical sciences; Biopsy; Canada; Case-Control Studies; European Continental Ancestry Group - genetics; Genes; Genetic Predisposition to Disease; Germ-Line Mutation; Homeodomain Proteins - genetics; Humans; Male; Medical sciences; Middle Aged; Mutation; Nephrology. Urinary tract diseases; Odds Ratio; Prostate cancer; Prostatic Neoplasms - genetics; Research Design; Risk Assessment; Risk Factors; Tumors; Tumors of the urinary system; Urinary tract. Prostate gland; Canada; Urinary system disease; Cancerology; Prostate disease; Germ line; Risk factor; Genetics; Malignant tumor; Mutation; Male genital diseases; Prostate cancer; Cancer
• ISSN: 0027-8874; 1460-2105
• DOI: 10.1093/jnci/djs288

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 case-control 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 40-94 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).