Evidence map›Paper›PMID 41400806›Full record

ArticleAnnals of surgical oncology2026

Genetic Variants in BER Pathway Genes Confer Wilms Tumor Susceptibility: New Insights from an Eight-Center Case-Control Study in Chinese Children.

Sheng Zhu, Jiahui Lai, Lei Lin, Haixia Zhou, Yizhen Wang, Hongting Lu, Shouhua Zhang, Shaohua He, Chunlei Zhou, Xun Liu and 3 more

Abstract readMulticenter Study
PubMed Publisher
In one paragraph

Article in Annals of surgical oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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3 · Its place in the literature

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1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

13 authors.

Sheng ZhuSchool of Medicine, Jinan University, Guangzhou, 510632, Guangdong, China.
Jiahui LaiDepartment of Nephrology, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510635, Guangdong, China.
Lei LinDepartment of Pediatric Surgery, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Institute of Pediatrics, Guangzhou Medical University, Guangzhou, 510623, Guangdong, China.
Haixia ZhouDepartment of Hematology, The Key Laboratory of Pediatric Hematology and Oncology Diseases of Wenzhou, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, 325027, Zhejiang, China.
Yizhen WangDepartment of Pathology, Anhui Provincial Children's Hospital, Hefei, 230051, Anhui, China.
Hongting LuDepartment of Pediatric Surgery, Qingdao Women and Children's Hospital, Qingdao, 266000, Shandong, China.
Shouhua ZhangDepartment of General Surgery, Jiangxi Provincial Children's Hospital, Nanchang, 330006, Jiangxi, China.
Shaohua HeDepartment of Pediatric Surgery, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, 350001, Fujian, China.
Chunlei ZhouDepartment of Pathology, Children's Hospital of Nanjing Medical University, Nanjing, 210008, Jiangsu, China.
Xun LiuDepartment of Nephrology, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510635, Guangdong, China.
Jing HeDepartment of Pediatric Surgery, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Institute of Pediatrics, Guangzhou Medical University, Guangzhou, 510623, Guangdong, China.
Rui-Xi HuaDepartment of Pediatric Surgery, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Institute of Pediatrics, Guangzhou Medical University, Guangzhou, 510623, Guangdong, China. huaruix@mail.sysu.edu.cn.ORCID http://orcid.org/0000-0001-5319-656X
Yong LiSchool of Medicine, Jinan University, Guangzhou, 510632, Guangdong, China. liyongpuwaike@163.com.

Funding

Health Research Project of Hunan Provincial Health Commission W20243244Health Research Project of Hunan Provincial Health Commission Z2023082Hunan Provincial Natural Science Foundation of China 2021JJ40272Hunan Provincial Natural Science Foundation of China 2023JJ30323Major Science and Technology Special Project of Wenzhou ZY2020021National Natural Science Foundation of China 82003523
6 · The paper itself

Abstract

backgroundWilms tumor is a highly heterogeneous tumor, and patients with high-risk Wilms tumor still do not have a good prognosis. DNA instability caused by abnormal genes in the base excision repair (BER) pathway is closely related to cancer. However, the important role of BER pathway gene variants in Wilms tumor remains largely unknown.

methodsWe enrolled 621 patients with Wilms tumor and 1737 controls from eight hospitals. We calculated odds ratios and 95% confidence intervals to evaluate the association strength. Stratification analysis was performed to further evaluate the associations of significant polymorphisms with the risk of Wilms tumor in different subgroups. False-positive report probability analysis was adopted to evaluate the robustness of the positive results. The associations of polymorphisms with gene expression were analyzed via eQTLs from the GTEx database.

resultsWe found that the FEN1 rs174538 GG, FEN1 rs4246215 GG, APEX1 rs3136817 CC, and XRCC1 rs25487 TT genotypes were associated with an increased risk of Wilms tumor, whereas the FEN1 rs4246215 TG/GG genotype was associated with a decreased risk. Stratification analysis revealed that significant polymorphisms remained associated with the risk of Wilms tumor in some subgroups. False-positive report probability analysis also revealed that some positive results were more robust. The eQTL results revealed that all four polymorphisms were associated with alterations in the expression of host or nearby genes.

conclusionsFEN1 rs174538 A>G, FEN1 rs4246215 T>G, APEX1 rs3136817 T>C, and XRCC1 rs25487 C>T are associated with Wilms tumor susceptibility, which provides potential molecular markers for the early diagnosis of Wilms tumor.

Indexed as

Biomarkers, TumorDNA-(Apurinic or Apyrimidinic Site) LyaseDNA RepairGenetic Predisposition to DiseaseKidney NeoplasmsPolymorphism, Single NucleotideWilms TumorX-ray Repair Cross Complementing Protein 1Case-Control StudiesChildChild, PreschoolChinaEast Asian PeopleFemaleFollow-Up StudiesGenotypeAPEX1 protein, humanBiomarkers, TumorDNA-(Apurinic or Apyrimidinic Site) LyaseX-ray Repair Cross Complementing Protein 1XRCC1 protein, humanBER pathwayPolymorphismSusceptibilityWilms tumor

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.