Cancer predisposition signaling in Beckwith-Wiedemann Syndrome drives Wilms tumor development.

ABSTRACT:

Background

Wilms tumor (WT) exhibits structural and epigenetic changes at chromosome 11p15, which also cause Beckwith-Wiedemann Syndrome (BWS). Children diagnosed with BWS have increased risk for WT. The aim of this study is to identify the molecular signaling signatures in BWS driving these tumors.

Methods

We performed whole exome sequencing, methylation array analysis, and gene expression analysis on BWS-WT samples. Our data were compared to publicly available nonBWS data. We categorized WT from BWS and nonBWS patients by assessment of 11p15 methylation status and defined 5 groups- control kidney, BWS-nontumor kidney, BWS-WT, normal-11p15 nonBWS-WT, altered-11p15 nonBWS-WT.

Results

BWS-WT samples showed single nucleotide variants in BCORL1, ASXL1, ATM and AXL but ab

SUBMITTER: Nirgude S 

PROVIDER: S-EPMC10876704 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature