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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour
Nature Communications, Volume 5, Article 4398, Year 2014
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Description
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. © 2014 Macmillan Publishers Limited.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC4143912/bin/ncomms5398-s1.pdf
Authors & Co-Authors
Hanks, Sandra P.
United Kingdom, London
The Institute of Cancer Research
Perdeaux, Elizabeth R.
United Kingdom, London
The Institute of Cancer Research
Seal, Sheila
United Kingdom, London
The Institute of Cancer Research
Ruark, Elise
United Kingdom, London
The Institute of Cancer Research
Mahamdallie, Shazia S.
United Kingdom, London
The Institute of Cancer Research
Murray, Anne
United Kingdom, London
The Institute of Cancer Research
Ramsay, Emma
United Kingdom, London
The Institute of Cancer Research
del Vecchio Duarte, Silvana
United Kingdom, London
The Institute of Cancer Research
Zachariou, Anna
United Kingdom, London
The Institute of Cancer Research
de Souza, Bianca
United Kingdom, London
The Institute of Cancer Research
United Kingdom, London
The Royal Marsden Nhs Foundation Trust
Warren-Perry, Margaret G.
United Kingdom, London
The Institute of Cancer Research
Elliott, Anna
United Kingdom, London
The Institute of Cancer Research
Davidson, Alan I.G.
South Africa, Cape Town
University of Cape Town
Price, Helen
United Kingdom, Swindon
Great Western Hospital
Stiller, Charles A.
United Kingdom, Oxford
University of Oxford
Pritchard-Jones, Kathy
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Rahman, Nazneen
United Kingdom, London
The Institute of Cancer Research
United Kingdom, London
The Royal Marsden Nhs Foundation Trust
Statistics
Citations: 85
Authors: 17
Affiliations: 6
Identifiers
Doi:
10.1038/ncomms5398
e-ISSN:
20411723
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health
Study Design
Cross Sectional Study