致病性胚系变异提示转诊进行基因检测的儿科患者癌症风险升高

Nature Medicine，在线发表：2026年5月29日；doi:10.1038/s41591-026-04451-1

Through large-scale genomic analysis, we show that pathogenic germline variants in pediatric cancer-predisposition genes are associated with increased subsequent tumor risk, highlighting their value for counseling and surveillance.