Influence of genetic biomarkers on cardiac diseases in childhood cancer survivors: a systematic review.

IF 2.9 3区医学 Q2 GENETICS & HEREDITY

Pharmacogenomics Journal Pub Date : 2025-05-24 DOI:10.1038/s41397-025-00369-y

Naïla Aba, Claire Ducos, Eric Morel, Chiraz El Fayech, Brice Fresneau, Florent de Vathaire, Gwénaël Le Teuff, Nadia Haddy

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引用次数: 0

Abstract

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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遗传生物标志物对儿童癌症幸存者心脏疾病的影响：系统综述

儿童癌症幸存者（CCS）在接受包括蒽环类药物和涉及心脏的放射治疗后，经常患有心脏病（CD）。然而，乳糜泻发生的变异性不能仅仅通过这些治疗来解释，这表明存在遗传易感性。我们在Medline-PubMed和Scopus上进行了系统综述搜索，以确定遗传因素与CCS中CD之间关联的研究。我们纳入了截至2023年4月11日发表的研究，没有下限，并通过Q-genie工具评估遗传关联的质量。结果，纳入了20项研究（15例病例对照和5个队列），揭示了与心肌病相关的多个基因和变异，其中SLC28A3-rs7853758、RARG-rs2229774、P2RX7-rs208294和P2RX7-rs3751143变异的结果最为一致。这篇综述强调了建立一套临床有用的基因和变异来识别最有可能发生心肌病的患者，并实施监测和预防策略的必要性。

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来源期刊

Pharmacogenomics Journal 医学-药学

CiteScore

7.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： The Pharmacogenomics Journal is a print and electronic journal, which is dedicated to the rapid publication of original research on pharmacogenomics and its clinical applications. Key areas of coverage include: Personalized medicine Effects of genetic variability on drug toxicity and efficacy Identification and functional characterization of polymorphisms relevant to drug action Pharmacodynamic and pharmacokinetic variations and drug efficacy Integration of new developments in the genome project and proteomics into clinical medicine, pharmacology, and therapeutics Clinical applications of genomic science Identification of novel genomic targets for drug development Potential benefits of pharmacogenomics.