Dataset Information
Ena-DATASET-ICR-GSR-09-09-2014-10:48:45:936-187 - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001001003 | EGA |
REPOSITORIES: EGA
Publications
Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.
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]
