Patel Jai N
Levine Cancer Institute, Carolinas HealthCare System, Charlotte, North Carolina, USA.
Pharmacogenet Genomics. 2015 May;25(5):223-30. doi: 10.1097/FPC.0000000000000134.
The goal of pharmacogenomic research is to discover and validate genetic variants that are predictive of drug response, for eventual implementation into clinical practice. Cancer pharmacogenomics provides the opportunity to analyze two sets of DNA, that of the tumor (somatic) and that of the host (germline). Germline variants are inherited variations and are often associated with the pharmacokinetic behavior of a drug, including drug disposition and ultimately drug efficacy and/or toxicity, whereas somatic mutations are often useful in predicting the pharmacodynamic response to drugs. Pharmacoethnicity, or ethnic diversity in drug response or toxicity, is an increasingly recognized factor accounting for interindividual variations in anticancer drug response. Pharmacoethnicity is often determined by germline pharmacogenomic factors and the distribution of single nucleotide polymorphisms across various populations, but it may also be influenced by nongenetic factors, such as environmental factors. This review aims to elucidate the importance of pharmacoethnicity in cancer pharmacogenomic research and implementation, focusing solely on germline variants.
药物基因组学研究的目标是发现并验证可预测药物反应的基因变异，以便最终应用于临床实践。癌症药物基因组学提供了分析两组DNA的机会，即肿瘤（体细胞）DNA和宿主（生殖系）DNA。生殖系变异是遗传变异，通常与药物的药代动力学行为相关，包括药物处置以及最终的药物疗效和/或毒性，而体细胞突变通常有助于预测药物的药效学反应。药物种族差异，即药物反应或毒性方面的种族多样性，是一个日益受到认可的因素，可解释抗癌药物反应的个体间差异。药物种族差异通常由生殖系药物基因组学因素以及单核苷酸多态性在不同人群中的分布决定，但它也可能受到非遗传因素的影响，如环境因素。本综述旨在阐明药物种族差异在癌症药物基因组学研究和应用中的重要性，仅关注生殖系变异。
