Pathogenic germline variations and cancer risks in pediatric patients referred for genetic testing

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Germline variants significantly contribute to cancer risk, with approximately 10% of pediatric cancer patients harboring these mutations.
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Next-generation sequencing has become essential for diagnosing pediatric genetic disorders and identifying tumor-predisposing variants.
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Only 0.3% of patients tested had preexisting tumors, while 208 new tumor cases were diagnosed in the follow-up group.
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Among 411 tumor cases, 32.6% had pathogenic or likely pathogenic germline variants, highlighting the importance of genetic testing.
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The study emphasizes the need for longitudinal research to better understand cancer risks associated with germline variants in children.

Nature Medicine

by Huijun Wang, Xinran Dong, Feifan Xiao, Gen Li, Yulan Lu, Mengyuan Qiao, Bingbing Wu, Qi Ni, Kai Yan, Qin Li, Zhaoqing Yin, Ling Yang, Dongmei Chen, Liping Chen, Wenqing Kang, Qiufen Wei, Li Tao, Guoqiang Cheng, Laishuan Wang, Kai Li, Chun Shen, Sujuan Wang, Xiu Xu, Mingqi Yang, Fei Liu, Hao Li, Kang Zhang, Wenhao Zhou
May 20, 2026

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