Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour
Copyright policy )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 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.
- University College London United Kingdom
- Institute of Cancer Research United Kingdom
- Great Western Hospitals NHS Foundation Trust United Kingdom
- University of Oxford United Kingdom
- Great Western Hospital United Kingdom
Male, 570, Heterozygote, DNA Mutational Analysis, Kidney, Wilms Tumor, Article, 616, Humans, Exome, Genetic Predisposition to Disease, Lymphocytes, Child, Preschool, Germ-Line Mutation, Family Health, Infant, Nuclear Proteins, Exons, Phosphoproteins, Pedigree, Alternative Splicing, Child, Preschool, Female, Transcription Factors
Male, 570, Heterozygote, DNA Mutational Analysis, Kidney, Wilms Tumor, Article, 616, Humans, Exome, Genetic Predisposition to Disease, Lymphocytes, Child, Preschool, Germ-Line Mutation, Family Health, Infant, Nuclear Proteins, Exons, Phosphoproteins, Pedigree, Alternative Splicing, Child, Preschool, Female, Transcription Factors
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