Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.
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ABSTRACT:
SUBMITTER: Hanks S
PROVIDER: S-EPMC4143912 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
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Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.
Hanks Sandra S Perdeaux Elizabeth R ER Seal Sheila S Ruark Elise E Mahamdallie Shazia S SS Murray Anne A Ramsay Emma E Del Vecchio Duarte Silvana S Zachariou Anna A de Souza Bianca B Warren-Perry Margaret M Elliott Anna A Davidson Alan A Price Helen H Stiller Charles C Pritchard-Jones Kathy K Rahman Nazneen N
Nature communications 20140807
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 ...[more]
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