Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour
Nature Communications2014Vol. 5(1), pp. 4398–4398
Citations Over TimeTop 10% of 2014 papers
Sandra Hanks, Elizabeth R Perdeaux, Sheila Seal, Elise Ruark, Shazia Mahamdallie, Anne R. Murray, Emma Ramsay, Silvana Del Vecchio Duarte, Anna Zachariou, Bianca de Souza, Margaret Warren-Perry, Anna Elliott, Alan Davidson, Helen P. Price, Charles Stiller, Kathy Pritchard‐Jones, Nazneen Rahman
Abstract
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 polymerase-associated factor 1 complex which has multiple roles in RNA polymerase II regulation and is implicated in embryonic organogenesis and maintenance of embryonic stem cell pluripotency. These data establish CTR9 as a Wilms tumour predisposition gene and suggest it acts as a tumour suppressor gene.
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