Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour

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 f...

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Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Pub. Group 2014
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4143912/
https://ncbi.nlm.nih.gov/pubmed/25099282
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms5398
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