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Article

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

Nature medicine - 1 Jun 2026

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

Abstract excerpt

Next-generation sequencing technologies have been widely applied in diagnosing genetic disorders in pediatric patients. However, the cancer predisposition and tumor characteristics in individuals who have germline pathogenic variants remain unclear. We analyzed exome sequencing data from 75,602 pediatric patients referred for genetic testing between January 2016 and January 2025, tracking cancer as a secondary...

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Topics

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Share to DNA Copy Number Variations
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42162371
DOI: 10.1038/s41591-026-04423-5
PMCID: PMC13278953

Genes

NF1
RB1
TSC2
WT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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