Mutations in the transcriptional repressor REST predispose to Wilms tumor.

Mutations in the transcriptional repressor REST predispose to Wilms tumor.
Mahamdallie , S (2015) Nature Genetics (Link to abstract)

 

Analysis of whole exome sequencing data of familial Wilms tumor samples revealed several pathogenic mutations in the REST gene (encoding RE1-silencing transcription factor). The authors further analyzed (presumably) non-familial WT and found pathogenic mutations in a small percentage of patients. All 11 different mutations clustered in the DNA-binding domain of REST.


* REST mutations account for 2% of WT, similar to germline WT1. The authors suggest that screening for REST mutations in familial WT would be prudent and facilitate surveillance of relatives.