Oxysterols, oxygenated derivatives of cholesterol, are formed in the human body or ingested. Experimental evidence suggests that due to their diverse functions, e.g. modulating the activity of receptors such as liver X receptors, oxysterol-binding and metabolizing proteins, and several ATP binding cassette transporters, oxysterols may contribute to a number of human disorders including cancer. Genetic variability of oxysterol pathways represents another side of this process, affecting carcinogenesis and cancer progression. This review summarizes information about both the physiological role of oxysterol pathway genes and observed associations between their genetic variability and cancer incidence, progression, and therapy outcome. Besides candidate gene studies, results of genome-wide association studies are presented as well. The survey of available data shows some potential genetic biomarkers that, if clinically validated, may allow the stratification of individuals into genetically defined groups for prediction of individual cancer risk and subsequent screening strategies for early diagnosis.

Toxicogenomics Unit National Institute of Public Health Srobarova 48 100 42 Prague 10 Czech Republic; 3rd Faculty of Medicine Charles University Ruska 87 100 00 Prague 10 Czech Republic

Toxicogenomics Unit National Institute of Public Health Srobarova 48 100 42 Prague 10 Czech Republic; Biomedical Center Faculty of Medicine in Pilsen Charles University Alej Svobody 76 Pilsen 32300 Czech Republic

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Integrative analysis of mRNA and miRNA expression profiles and somatic variants in oxysterol signaling in early-stage luminal breast cancer

Plasma oxysterol levels in luminal subtype breast cancer patients are associated with clinical data