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.

氧合胆固醇是胆固醇的氧化衍生物，是在人体中形成​​或摄入的。实验证据表明，由于它们的多种功能，例如调节诸如肝X受体，氧固醇结合和代谢蛋白等受体的活性以及几种ATP结合盒转运蛋白，氧固醇可能导致许多人类疾病，包括癌症。氧固醇途径的遗传变异性代表了这一过程的另一面，影响了癌变和癌症的发展。这篇综述总结了关于氧固醇途径基因的生理作用以及它们的遗传变异性与癌症发生率，进展和治疗结果之间的相关性的信息。除了候选基因研究，还介绍了全基因组关联研究的结果。