Article
Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.
Nature communications - 7 Aug 2014
Hanks Sandra, Perdeaux Elizabeth R, Seal Sheila, Ruark Elise, Mahamdallie Shazia S, Murray Anne, Ramsay Emma, Del Vecchio Duarte Silvana, Zachariou Anna, de Souza Bianca, Warren-Perry Margaret, Elliott Anna, Davidson Alan, Price Helen, Stiller Charles, Pritchard-Jones Kathy, Rahman Nazneen
Abstract excerpt
Wilms tumour is a childhood kidney cancer. Here we identify inactivating CTR9 mutations in 3 of 35 Wilms tumour families, through exome and Sanger sequencing. By contrast, no similar mutations are present in 1,000 population controls (P<0.0001). Each mutation segregates with Wilms tumour in the family and a second mutational event is present in available tumours. CTR9 is a key component of the...
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