Genetics of Anthracycline-Mediated Cardiotoxicity: Current Status and Challenges

Anthracyclines are potent and widely used anti-cancer compounds which carry a significant risk of cardiotoxicity. Genetic background is a key determinant of risk susceptibility and identifying causal genes and polymorphisms is an area of intense and growing interest. In this review, we provide an overview of the strategies employed to identify causal alleles and key findings stemming from recent studies. We describe candidate gene association studies and genome-wide association studies of anthracycline cardiotoxicity and summarize key findings. The importance of data robustness is discussed, as well as the largely untapped potential of stem cell–based strategies for both validation and discovery purposes. Multi-disciplinary and coordinated efforts will be vital to fully understand the link between genetic background and anthracycline cardiotoxicity risk. Doing so will enhance understanding of pathological mechanisms and enable more personalized and nuanced treatment strategies for patients undergoing anthracycline chemotherapy.