Genetic Analysis of Skin Tumor Progression
Author Information
Author(s): David A. Quigley, Minh D. To, Il Jin Kim, Kevin K. Lin, Donna G. Albertson, Jonas Sjolund, Jesús Pérez-Losada, Allan Balmain
Primary Institution: Helen Diller Family Comprehensive Cancer Center, University of California San Francisco
Hypothesis
Whether germline variants affect gene expression in tumors that have undergone somatic alterations, and the extent to which these variants influence tumor progression, is unknown.
Conclusion
The genetic architecture is substantially altered in tumors, and eQTL analysis of tumors can identify host factors that influence the tumor microenvironment, MAP kinase signaling, and cancer susceptibility.
Supporting Evidence
- Germline polymorphisms can influence gene expression networks in normal mammalian tissues and can affect disease susceptibility.
- The number of significant eQTL is progressively reduced in benign and malignant skin tumors when compared to normal skin.
- Novel tumor-specific eQTL are detected for several genes associated with tumor susceptibility.
Takeaway
This study looked at how genes in mice change when they develop skin tumors, finding that some genes that help tumors grow are different from those in normal skin.
Methodology
An integrated linkage and genomic analysis of a mouse model of skin cancer was performed, including gene expression analysis and eQTL analysis.
Limitations
The confirmation cohort was relatively small, which may limit the power of the study.
Participant Demographics
FVBBX mice were used, with a defined genetic background.
Statistical Information
P-Value
p<0.00001
Statistical Significance
p<0.00001
Digital Object Identifier (DOI)
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