Application of pharmacogenetics in oncology.

Research paper by Nelly N NN Miteva-Marcheva, Hristo Y HY Ivanov, Dimitar K DK Dimitrov, Vili K VK Stoyanova

Indexed on: 23 Aug '20Published on: 22 Aug '20Published in: Biomarker Research


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. © The Author(s) 2020.