Targeted resequencing of the microRNAome and 3’UTRome reveals functional germline DNA variants with altered prevalence in epithelial ovarian cancer

To identify novel cancer-associated, functional germline variants, we captured DNA regions corresponding to all validated human microRNAs and the 3’UTRs of ~ 6000 cancer-associated genes from 31 ovarian cancer patients. Multiple SNPs in the 3’UTR of several oncogenes were highly enriched in ovarian cancer patients compared to the 1000 Genome Project. Sequenom validation in a case-control study (264 cases and 84 controls) confirmed a novel variant in the 3’UTR of an oncogen is significantly associated with ovarian cancer (p = 0.00048). This work identifies a new ovarian cancer locus and further confirms that cancer resequencing efforts should not continue to ignore the study of non-coding regions of cancer patients.