title: HOXB13 mutations in a population-based, case-control study of prostate cancer.
abstract: BACKGROUND
  Prostate cancer (PC) is the most frequently diagnosed non-skin malignancy in men in the Western world, yet few disease-associated mutations have been found. Recently, a low frequency recurring mutation in the HOXB13 gene was reported among both hereditary PC families and men from the general population.
  
  
  METHODS
  We determined the distribution and frequency of the G84E HOXB13 variant in 1,310 incipient PC cases and 1,259 age-mated controls from a population-based, case-control study of PC.
  
  
  RESULTS
  The G84E mutation was more frequent in cases than controls (1.3% vs. 0.4%, respectively), and men with the HOXB13 G84E variant had a 3.3-fold higher relative risk of PC compared with noncarriers (95% CI, 1.21-8.96). There was a stronger association between the G84E variant and PC among men with no first-degree relative with PC (OR, 4.04; 95% CI, 1.12-14.51) compared to men with a family history of PC (OR, 1.49; 95% CI, 0.30-7.50; P = 0.36 for interaction). We observed some evidence of higher risk estimates associated with the variant for men with higher versus lower Gleason score (OR, 4.13; 95% CI, 1.38-12.38 vs. OR, 2.71; 95% CI, 0.88-8.30), and advanced versus local stage (OR, 4.47; 95% CI, 1.28-15.57 vs. OR, 2.98; 95% CI, 1.04-8.49), however these differences were not statistically different.
  
  
  CONCLUSIONS
  These results confirm the association of a rare HOXB13 mutation with PC in the general population and suggest that this variant may be associated with features of more aggressive disease.
authors.affiliation: Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
authors.forename: Marni
authors.initials: M
authors.lastname: Stott-Miller
authors.forename: Danielle M
authors.initials: DM
authors.lastname: Karyadi
authors.forename: Tiffany
authors.initials: T
authors.lastname: Smith
authors.forename: Erika M
authors.initials: EM
authors.lastname: Kwon
authors.forename: Suzanne
authors.initials: S
authors.lastname: Kolb
authors.forename: Janet L
authors.initials: JL
authors.lastname: Stanford
authors.forename: Elaine A
authors.initials: EA
authors.lastname: Ostrander
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005828:Genetics, Population; D005838:Genotype; D049669:History, 16th Century; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D060787:Neoplasm Grading; D017354:Point Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011471:Prostatic Neoplasms / Q000453:epidemiology* / Q000235:genetics* / Q000473:pathology; D012307:Risk Factors; D014861:Washington / Q000453:epidemiology; D044465:White People / Q000235:genetics
chemical_list: C484414:HOXB13 protein, human; D018398:Homeodomain Proteins