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Adverse drug reactions (ADRs) are a serious burden and can negatively impact patient quality of life. One of these ADRs, anthracycline-induced cardiotoxicity (ACT), occurs in up to 65% of treated patients and can lead to congestive heart failure. Pharmacogenetic studies have helped to reveal the mechanisms of ACT and, consequently, inform current strategies to prevent ACT in the clinic. Many pharmacogenetic studies have been conducted for ACT, but few have led to the development of clinical practice guidelines and clinical genetic testing for ACT. This is, in part, because of lack of replication in independent patient cohorts and/or validation of an affected biological pathway. Recent advances in pharmacogenetic studies have been made through the use of novel methods that directly implicate dysregulated genes and perturbed biological pathways in response to anthracycline treatment. Furthering the understanding of the genetics and altered biological pathways of ACT through these novel methods can inform clinical treatment strategies and enable refinement of current clinical practice guidelines. This can therefore lead to improvement in clinical pharmacogenetic testing for further reduction of the incidence of ACT in pediatric cancer patients taking anthracyclines.


Erika N Scott, Jafar S Hasbullah, Bruce C Carleton, Colin J D Ross. Prevention of adverse drug effects: a pharmacogenomic approach. Current opinion in pediatrics. 2020 Oct;32(5):646-653

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PMID: 32796162

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