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

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

  • 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

  • 0 min

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Objective:

To profile the underlying cancer risk and tumor characteristics in children with pathogenic germline variants, providing critical information for genetic counseling and early prevention measures, particularly focusing on specific cancer types.

Key Findings:
  • Approximately 10% of pediatric cancer patients harbor germline variants, indicating a significant genetic component.
  • Out of 75,602 cases analyzed, 32.6% had pathogenic/likely pathogenic (P/LP) variants, highlighting the prevalence of these variants.
  • The follow-up group had a higher proportion of benign tumors (68.3%) compared to the preexisting tumor group (52.2%), suggesting differences in tumor characteristics.
  • Common malignant tumors included Wilms tumor, retinoblastoma, and neuroblastoma, which are critical for understanding pediatric cancer.
Interpretation:

The study highlights the importance of identifying germline variants in both cancer-affected and unaffected children, suggesting that current practices may underestimate the prevalence of these variants, which has implications for genetic counseling.

Limitations:
  • Lack of longitudinal studies tracking outcomes over time, which may limit understanding of long-term cancer risks.
  • Potential underreporting of variants in children without cancer, which could skew prevalence estimates.
Conclusion:

Understanding the cancer risk associated with germline variants in pediatric patients is crucial for improving genetic counseling and preventive strategies, emphasizing the need for updated practices.

Original Source(s)

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

  • 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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