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Dinucleotide-barcode reporter assay of breast risk variants identified PAX9 as a gene promoting breast cancer procession

ABSTRACT: We adapted the DiR barcode-based parallel reporter assay systems strategy to systematically identify the breast cancer related SNPs that affect gene expression by modulating activities of regulatory elements. Among 293 SNPs linked with GWAS-identified breast cancer-risk SNPs, we found seven functional regulatory SNPs in MCF7 cells. Further mechanism study indicates that one SNP regulates gene expression in breast cancer malignancy. The DiR system has great potential to advance the functional study of risk SNPs that have associations with polygenic diseases. Our findings hold great promise in benefiting breast cancer patients with prognostic prediction.

ORGANISM(S): synthetic construct Homo sapiens

PROVIDER: GSE178198 | GEO | 2021/06/16

REPOSITORIES: GEO

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A Dinucleotide-barcode reporter system and application in dissecting the causal rule of regulatory risk SNPs

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