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Integrative genomic analysis implicates ERCC6 and its interaction with ERCC8 in susceptibility to breast cancer.


ABSTRACT: Up to 30% of all breast cancer cases may be inherited and up to 85% of those may be due to segregation of susceptibility genes with low and moderate risk [odds ratios (OR) ≤ 3] for (mostly peri- and post-menopausal) breast cancer. The majority of low/moderate-risk genes, particularly those with minor allele frequencies (MAF) of < 30%, have not been identified and/or validated due to limitations of conventional association testing approaches, which include the agnostic nature of Genome Wide Association Studies (GWAS). To overcome these limitations, we used a hypothesis-driven integrative genomics approach to test the association of breast cancer with candidate genes by analyzing multi-omics data. Our candidate-gene association analyses of GWAS datasets suggested an increased risk of breast

SUBMITTER: Moslehi R 

PROVIDER: S-EPMC7718875 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature