The DOI matches its Crossref record; 13 of the 13 references it cites were found in a registry or an index.
Integrative eQTL-Based Analyses Reveal the Biology of Breast Cancer Risk Loci
Open accessAbstract
Summary Germline determinants of gene expression in tumors are less 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 eQTL saccounted 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 discovery of three variants that are significantly associated with transcript levels (FDR<0.1). In a novel trans- based analysis, an additional three risk loci were identified 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.
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Cites
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The role of regulatory variation in complex traits and disease
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Molecular mechanisms of diabetic kidney disease
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The Continuum of Cancer Immunosurveillance: Prognostic, Predictive, and Mechanistic Signatures
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Beyond GWASs: Illuminating the Dark Road from Association to Function
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Metadata
- Authors
- Li, Q., Seo, J.-H., Stranger, B., McKenna, A., Pe’er, I., LaFramboise, T., Brown, M., Tyekucheva, S., & Freedman, M. L.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2013-01
- Volume
- 152
- Issue
- 3
- Pages
- 633-641
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2122698311
- Cited by
- 308
- References
- 13
- FWCI
- 26.71
- Type
- journal article
- Language
- en
- Open access
- bronze
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