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Integrative eQTL-Based Analyses Reveal the Biology of Breast Cancer Risk Loci.
|Publication Type||Journal Article|
|Authors||Li, Q., Seo JH, Stranger B., McKenna A., Pe'er I., LaFramboise T., Brown M., Tyekucheva S., and Freedman ML|
|Abstract||Germline determinants of gene expression in tumors are infrequently studied due to the complexity of transcript regulation caused by somatically acquired alterations. We performed expression quantitative trait locus (eQTL)-based analyses using the multi-level information provided in The Cancer Genome Atlas (TCGA). Of the factors we measured, cis-acting eQTLs accounted for 1.2% of the total variation of tumor gene expression, while somatic copy-number alteration and CpG methylation accounted for 7.3% and 3.3%, respectively. eQTL analyses of 15 previously reported breast cancer risk loci resulted in the discovery of three variants that are significantly associated with transcript levels (false discovery rate [FDR] < 0.1). Our trans-based analysis identified an additional three risk loci to act through ESR1, MYC, and KLF4. These findings provide a more comprehensive picture of gene expression determinants in breast cancer as well as insights into the underlying biology of breast cancer risk loci.|
|Year of Publication||2013|
|Date Published (YYYY/MM/DD)||2013/01/31|