ArticleJournal of Indian Association of Pediatric Surgeons
Expanding the Genetic Blueprint of Wilms Tumor: An Account of 71 Novel Variants across 16 Genes with Novel Implications for Wilms Tumor Pathogenesis.
Article in Journal of Indian Association of Pediatric Surgeons. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: While Wilms tumor (WT) is primarily associated with mutations in Objective: The objective of this study was to comprehensively characterize novel genetic variants in WT through whole-genome sequencing analysis of paired tumor and normal renal tissues. Materials and Methods: Somatic exonic variants (paired, malignant, and normal renal tissues) in the whole genome of the study cohort were filtered for exonic regions, annotated using multiple prediction tools (SIFT, MutationTaster, Combined Annotation Dependent Depletion [CADD]), and analyzed for functional relevance using cBioPortal and STRING databases. Results: Seventy-one variants in 16 genes were consistently present across the study cohort. Statistically, Conclusions: This study significantly expands WT's genetic landscape by identifying 71 variants across 16 genes, including several genes with established roles in other cancers (
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