G84E germline mutation in HOXB13 gene is associated with increased prostate cancer risk in Polish men

WetestedtheassociationbetweenHOXB13G84E(rs138213197)germlinemu-tationandPCriskinPolishmen. DNAfrom103consecutive,newlydiagnosedpatientshospitalisedbecauseofPC andDNAfrom103men:volunteers,healthyatthetimeofthestudy. TheG84EmutationwasgenotypedusingSangersequencing. TheHOXB13G84Egermlinemutationwasdetectedin2.9%ofPCmen(3/103) andnotdetectedinanyhealthyman.Twomutationcarriersoriginatedfromtwo of25familiesfulfillinghereditaryprostatecancercriteria(HPC)andonemutation carrier from one family among 78 families without HPC (PC frequency: 8%vs.1.3%,OR=6.70,p=0.13).Intwoofthreemutationcarriers,disease was detected above 60 years of age. There was a trend for a lower probability of5-yearsurvivalinpatientswithG84Ethaninpatientswithoutit(66.7%vs. 94.0%,p=0.08). The HOXB13 G84E germline mutation is associated with increased prostate cancerriskinPolishmen,withhereditaryformofthedisease,andprobablywith olderageatPConset(>60yearsofage)andshortersurvival.However,itisnot associatedwithPSAlevel,orPCstageorgradeatthetimeofdiagnosis.