Related Experiment Video
Updated: Jan 7, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Genetic Variants in BER Pathway Genes Confer Wilms Tumor Susceptibility: New Insights from an Eight-Center
Sheng Zhu1,2, Jiahui Lai3, Lei Lin4
1School of Medicine, Jinan University, Guangzhou, 510632, Guangdong, China.
Background:
Wilms 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.
Methods:
We 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.
Results:
We 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.
Conclusions:
FEN1 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.
Related Concept Videos
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Pleiotropy
Loss of Tumor Suppressor Gene Functions
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
Single Nucleotide Polymorphisms-SNPs
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Canonical Wnt Signaling Pathway

