New cause of child brain tumour condition identified

Our structure (research) Impact of our research Postgraduate research 02 Dec 2014 Doctors and scientists from The University of Manchester have identified changes in a gene, which can increase the risk of developing brain tumours in children with a rare inherited condition called Gorlin syndrome. Gorlin syndrome causes an increased risk of developing cancers of the skin and, rarely, in the brain. Around 1 in 30,000 people has the condition. Most people with Gorlin syndrome have a change in a gene called PTCH1 , but the new research has revealed that changes in a gene called SUFU also cause Gorlin syndrome and it is children with a change in SUFU that are 20 times more likely to develop a brain tumour. Dr Miriam Smith, a lecturer in cancer genomics from the University's Institute of Human Development led the research, which was also carried out with The Christie NHS Foundation Trust and the Royal Manchester Children's Hospital. She said: "We have essentially found a new cause of Gorlin syndrome, but one that results in the specific outcome of a childhood brain tumour called a medulloblastoma in small children. The researchers at Manchester identified mutations in the SUFU gene as a cause of Gorlin syndrome in families with at least one person affected by a medulloblastoma.