Life Science and Medical News from Around the Globe
Mutations in Gene Essential for Cell Regulation Can Cause Wilms Tumor Kidney Cancer in Children
Mutations in a gene that helps regulate when genes are switched on and off in cells have been found to cause rare cases of Wilms tumor, the most common kidney cancer occurring in children. A study led by scientists at The Institute of Cancer Research, London, identified mutations in the CTR9 gene in six children with Wilms tumor. Wilms tumor affects approximately one in 10,000 children and usually develops before the age of five years. Treatment of Wilms tumor is very successful, with 90 per cent of children being cured. Usually Wilms tumor only affects one child in a family, but very occasionally more than one child in a family develops the cancer. When this happens it indicates that hereditary genetic factors are likely to be involved. The researchers studied the genes of 35 families with more than one case of Wilms tumor, recruited to the study through a network of collaborators from across the world. In six children, from three different families, the researchers found CTR9 mutations that stopped the gene from working properly. No similar mutations were present in 1,000 individuals without Wilms tumor. The research is published today (Thursday, August 7, 2014) in an open-access article in Nature Communications and is part of the Factors Associated with Childhood Tumours Study, which is funded by the Wellcome Trust, and aims to identify genetic causes of childhood cancers. The study was also supported by Cancer Research UK. CTR9 is part of a multi-protein complex, known as PAF1 (image shows example), which regulates when genes are switched on and off. The PAF1 complex has many essential diverse roles in controlling cellular processes and organ development in the embryo.