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Letter

Nature Genetics 40, 1329–1334 (1 November 2008) | doi:10.1038/ng.243

Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor

Richard H Scott , Jenny Douglas , Linda Baskcomb , Nikki Huxter , Karen Barker , Sandra Hanks , Alan Craft , Mary Gerrard , Janice A Kohler , Gill A Levitt , Sue Picton , Barry Pizer , Milind D Ronghe , Denise Williams , Jackie A Cook , Pascal Pujol , Eamonn R Maher , Jillian M Birch , Charles A Stiller , Kathy Pritchard-Jones & Nazneen Rahman

Constitutional abnormalities at the imprinted 11p15 growth regulatory region cause syndromes characterized by disordered growth, some of which include a risk of Wilms tumor. We explored their possible contribution to nonsyndromic Wilms tumor and identified constitutional 11p15 abnormalities in genomic lymphocyte DNA from 13 of 437 individuals (3%) with sporadic Wilms tumor without features of growth disorders, including 12% of bilateral cases (P = 0.001) and in one familial Wilms tumor pedigree.