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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?

SUBMITTER: Chen H 

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

REPOSITORIES: biostudies-literature

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

Chen Hongjie H   Kichaev Gleb G   Bien Stephanie A SA   MacDonald James W JW   Wang Lu L   Bammler Theo K TK   Auer Paul P   Pasaniuc Bogdan B   Lindström Sara S  

Human genetics 20190622 10


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 lin  ...[more]

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