Why the study?
Variability in cardiac disease occurrence among childhood cancer survivors treated with anthracycline and radiotherapy cannot be explained solely by these treatments, suggesting genetic predisposition.
Are genetic biomarkers associated with the development of cardiac disease in childhood cancer survivors?
Are genetic biomarkers associated with the development of cardiac disease in childhood cancer survivors?
Specific genetic variants are consistently associated with cardiomyopathy in childhood cancer survivors, highlighting their potential utility for risk stratification and targeted monitoring.
Answers are grounded in this paper and cite their sources.
Supports genetic risk stratification in CCS cardiac surveillance; confirms predisposition beyond anthracycline/radiotherapy exposure.
Childhood cancer survivors (CCS) often suffer from cardiac disease (CD) after treatment that included anthracycline and radiotherapy involving the heart. However, the variability in CD occurrence cannot be explained solely by these treatments, suggesting the existence of genetic predisposition. We conducted a systematic review searching on Medline-PubMed and Scopus, to identify studies reporting associations between genetic factors and CD in CCS. We included studies published up to 11 April 2023, with no lower limit, and assessed the quality of genetic associations by the Q-genie tool. As a result, 20 studies were included (15 case-control and five cohorts), revealing several genes and variants associated with cardiomyopathy, among which, SLC28A3-rs7853758, RARG-rs2229774, P2RX7-rs208294 and P2RX7-rs3751143 variants gave the most consistent findings. This review highlights the necessity to establish a set of clinically useful genes and variants to identify patients most at risk of developing cardiomyopathy, and to implement monitoring and prevention strategies.
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Aba et al. (2025) studied this question.
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