Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion.

ABSTRACT:

Objective

The aim of this study was to determine if there is a significant difference in the risk of developing Wilms tumour between patients with submicroscopic and those with visible deletions of the WT1 tumour suppressor gene.

Methods

To determine which subjects had WT1 deletions, high-resolution chromosomal deletion analysis of the 11p13 region was carried out in 193 people with aniridia. The rationale for this was that aniridia is caused by loss of function of one copy of the PAX6 gene, and although most patients with aniridia have intragenic mutations, a proportion has deletions that also include the nearby WT1 gene. Fluorescence in situ hybridisation (FISH) analysis of patients with aniridia identifies people with WT1 deletions regardless of whether they have Wilms tu

SUBMITTER: van Heyningen V 

PROVIDER: S-EPMC2652818 | biostudies-literature | 2007 Dec

REPOSITORIES: biostudies-literature