Article
Mutations in the transcriptional repressor REST predispose to Wilms tumor.
Nature genetics - 1 Dec 2015
Mahamdallie Shazia S, Hanks Sandra, Karlin Kristen L, Zachariou Anna, Perdeaux Elizabeth R, Ruark Elise, Shaw Chad A, Renwick Alexander, Ramsay Emma, Yost Shawn, Elliott Anna, Birch Jillian, Capra Michael, Gray Juliet, Hale Juliet, Kingston Judith, Levitt Gill, McLean Thomas, Sheridan Eamonn, Renwick Anthony, Seal Sheila, Stiller Charles, Sebire Neil, Westbrook Thomas F, Rahman Nazneen
Abstract excerpt
Wilms tumor is the most common childhood renal cancer. To identify mutations that predispose to Wilms tumor, we are conducting exome sequencing studies. Here we describe 11 different inactivating mutations in the REST gene (encoding RE1-silencing transcription factor) in four familial Wilms tumor pedigrees and nine non-familial cases. Notably, no similar mutations were identified in the ICR1000 control series...
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