Association of germline genetic variants with TMPRSS2-ERG fusion status in prostate cancer.

INTRODUCTION:Oncogenic activation of ERG resulting from TMPRSS2-ERGMATERIALS AND METHODS:SNP genotyping was performed on the Illumina platform using Infinium Oncoarray SNP chip on blood derived genomic DNA samples from 400 patients treated by radical prostatectomy at a single military institution. ERG status was determined in whole mounted prostate specimens by immuno-histochemistry (IHC) for ERG protein expression. Data analysis approaches included association analyses based on EMMAX and imputation by IMPUTE2. Imputed SNPs were validated by ddPCR. RESULTS:SNP genotyping analysis using imputation identified rs34349373 (p 4.68 × 10 -8-8TBC1D22B-5CONCLUSIONS:This study identified SNPs associated with ERG status of CaP. IMPACT:The findings may contribute towards defining the underlying genetics of ERG positive and ERG negative CaP patients.