The term “pharmacogenetics” is used to describe the study of variability in drug response due to heredity. It is associated with “gene – drug interactions”. Later on, the term “pharmacogenomics” has been introduced and it comprises all genes in the genome that can define drug response. The application of pharmacogenetics in oncology is of a great significance because of the narrow therapeutic index of chemotherapeutic drugs and the risk for life-threatening adverse effects. Many cancer genomics studies have been focused on the acquired, somatic mutations; however, increasing evidence shows that inherited germline genetic variations play a key role in cancer risk and treatment outcome. The aim of this review is to summarize the state of pharmacogenomics in oncology, focusing only on germline mutations. Genetic polymorphisms can be found in the genes that code for the metabolic enzymes and cellular targets for most of the chemotherapy drugs. Nevertheless, predicting treatment outcome is still not possible for the majority of regimens. In this review, we discuss the most comprehensively studied drug-gene pairs – present knowledge and current limitations. However, further studies in larger groups of cancer patients are necessary to be conducted with precise validation of pharmacogenetic biomarkers before these markers could be routinely applied in clinical diagnosis and treatment.

中文翻译：

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药物遗传学在肿瘤学中的应用。

术语“药物遗传学”用于描述由于遗传引起的药物反应变异性的研究。它与“基因-药物相互作用”有关。后来，引入了“药物基因组学”一词，它包含了基因组中所有可以定义药物反应的基因。药物遗传学在肿瘤学中的应用具有重要意义，因为化疗药物的治疗指数狭窄，并且存在危及生命的不良反应的风险。许多癌症基因组学研究都集中在获得性体细胞突变上。然而，越来越多的证据表明遗传的种系遗传变异在癌症风险和治疗结果中起关键作用。这篇综述的目的是总结肿瘤中药物基因组学的状态，仅关注种系突变。遗传多态性可以在大多数化学疗法药物的代谢酶和细胞靶标的基因中找到。尽管如此，大多数方案仍无法预测治疗结果。在这篇综述中，我们讨论了最全面研究的药物基因对-当前的知识和当前的局限性。然而，在将这些标记物常规用于临床诊断和治疗之前，有必要对大量的癌症患者进行进一步的研究，并对其药理遗传学标记物进行精确验证。我们讨论了最全面研究的药物基因对-当前的知识和当前的局限性。然而，在将这些标记物常规用于临床诊断和治疗之前，有必要对大量的癌症患者进行进一步的研究，并对其药理遗传学标记物进行精确验证。我们讨论了最全面研究的药物基因对-当前的知识和当前的局限性。然而，在将这些标记物常规用于临床诊断和治疗之前，有必要对大量的癌症患者进行进一步的研究，并对其药理遗传学标记物进行精确验证。