Genetic associations of breast and prostate cancer are enriched for regulatory elements identified in disease-related tissues.

ABSTRACT: Although genome-wide association studies (GWAS) have identified hundreds of risk loci for breast and prostate cancer, only a few studies have characterized the GWAS association signals across functional genomic annotations with a particular focus on single nucleotide polymorphisms (SNPs) located in DNA regulatory elements. In this study, we investigated the enrichment pattern of GWAS signals for breast and prostate cancer in genomic functional regions located in normal tissue and cancer cell lines. We quantified the overall enrichment of SNPs with breast and prostate cancer association p values < 1 × 10^-8 across regulatory categories. We then obtained annotations for DNaseI hypersensitive sites (DHS), typical enhancers, and super enhancers across multiple tissue types, to assess

SUBMITTER: Chen H 

PROVIDER: S-EPMC6745259 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature