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ICR-GSR

ABSTRACT: Data Access Committee EGAC00001000235

PROVIDER: EGAC00001000235 | EGA |

REPOSITORIES: EGA

ACCESS DATA

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Publications

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]

PMID: 25099282

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