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Cancer eQTLs can be determined from heterogeneous tumor gene expression data by modeling variation in tumor purity

By Paul Geeleher, Aritro Nath, Fan Wang, Zhenyu Zhang, Alvaro N Barbeira, Jessica Fessler, Robert L. Grossman, Cathal Seoighe, R. Stephanie Huang

Posted 10 Jul 2018
bioRxiv DOI: 10.1101/366922 (published DOI: 10.1186/s13059-018-1507-0)

Expression quantitative trait loci (eQTLs) identified using tumor gene expression data could affect gene expression in cancer cells, tumor-associated normal cells, or both. Here, we demonstrate a method to identify eQTLs affecting expression in cancer cells by modeling the statistical interaction between genotype and tumor purity. Only one-third of breast cancer risk variants, identified as eQTLs from a conventional analysis, could be confidently attributed to cancer cells. The remaining variants could affect cells of the tumor microenvironment, such as immune cells and fibroblasts. Deconvolution of tumor eQTLs will help determine how inherited polymorphisms influence cancer risk, development, and treatment response.

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