ArticleGenome biology2018
Cancer expression quantitative trait loci (eQTLs) can be determined from heterogeneous tumor gene expression data by modeling variation in tumor purity.
Article in Genome biology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 41 citations in OpenAlex.
- Pan-cancer analysis of single-cell profiles with polygenic signals reveals genetic influences on tumor immunity across cancers.Communications biology · 2026Article
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- Leveraging genome-wide association studies to better understand the etiology of cancers.Cancer science · 2025Review
- PRR13 expression as a prognostic biomarker in breast cancer: correlations with immune infiltration and clinical outcomes.Frontiers in molecular biosciences · 2025Article
- Regulatory QTLs affecting miRNA-mRNA interactions in cancer: mechanisms, methods, and clinical implications.Frontiers in molecular biosciences · 2025Review
- Integrative Computational Framework,bioRxiv : the preprint server for biology · 2024Article
- Identify Regulatory eQTLs by Multiome Sequencing in Prostate Single Cells.bioRxiv : the preprint server for biology · 2024Article
- Epigenome-augmented eQTL-hotspots reveal genome-wide transcriptional programs in 36 human tissues.Briefings in bioinformatics · 2024Article
- Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective.Human genetics · 2023Review
- Germline modifiers of the tumor immune microenvironment implicate drivers of cancer risk and immunotherapy response.Nature communications · 2023Article
- Refined expression quantitative trait locus analysis on adenocarcinoma at the gastroesophageal junction reveals susceptibility and prognostic markers.Frontiers in genetics · 2023Article
- DeCAF: a novel method to identify cell-type specific regulatory variants and their role in cancer risk.Genome biology · 2022Article
- Contribution and clinical relevance of germline variation to the cancer transcriptome.BMC cancer · 2022Article
- Allelic imbalance of chromatin accessibility in cancer identifies candidate causal risk variants and their mechanisms.Nature genetics · 2022Article
- The Expression Quantitative Trait Loci in Immune Response Genes Impact the Characteristics and Survival of Colorectal Cancer.Diagnostics (Basel, Switzerland) · 2022Article
- Association of genetic ancestry with HER2, GRB7 AND estrogen receptor expression among Colombian women with breast cancer.Frontiers in oncology · 2022Article
- Allele-specific epigenetic activity in prostate cancer and normal prostate tissue implicates prostate cancer risk mechanisms.American journal of human genetics · 2021Article
- DeCompress: tissue compartment deconvolution of targeted mRNA expression panels using compressed sensing.Nucleic acids research · 2021Article
- eQTL Colocalization Analyses Identify NTN4 as a Candidate Breast Cancer Risk Gene.American journal of human genetics · 2020Article
- Deconvolution of bulk blood eQTL effects into immune cell subpopulations.BMC bioinformatics · 2020Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
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 have demonstrated 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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