TY - JOUR
T1 - Influence of genetic biomarkers on cardiac diseases in childhood cancer survivors
T2 - a systematic review
AU - Aba, Naïla
AU - Ducos, Claire
AU - Morel, Eric
AU - El Fayech, Chiraz
AU - Fresneau, Brice
AU - de Vathaire, Florent
AU - Le Teuff, Gwénaël
AU - Haddy, Nadia
N1 - Publisher Copyright:
© The Author(s) 2025.
PY - 2025/6/1
Y1 - 2025/6/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=105005725409&partnerID=8YFLogxK
U2 - 10.1038/s41397-025-00369-y
DO - 10.1038/s41397-025-00369-y
M3 - Review article
AN - SCOPUS:105005725409
SN - 1470-269X
VL - 25
JO - Pharmacogenomics Journal
JF - Pharmacogenomics Journal
IS - 3
M1 - 15
ER -