We've updated our Privacy Policy to make it clearer how we use your personal data.

We use cookies to provide you with a better experience. You can read our Cookie Policy here.

Advertisement
New cause of child brain tumor condition identified
News

New cause of child brain tumor condition identified

New cause of child brain tumor condition identified
News

New cause of child brain tumor condition identified

Read time:
 

Want a FREE PDF version of This News Story?

Complete the form below and we will email you a PDF version of "New cause of child brain tumor condition identified"

First Name*
Last Name*
Email Address*
Country*
Company Type*
Job Function*
Would you like to receive further email communication from Technology Networks?

Technology Networks Ltd. needs the contact information you provide to us to contact you about our products and services. You may unsubscribe from these communications at any time. For information on how to unsubscribe, as well as our privacy practices and commitment to protecting your privacy, check out our Privacy Policy

Doctors and scientists from The University of Manchester have identified changes in a gene, which can increase the risk of developing brain tumors 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 tumor.


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 tumor 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. They compared the risk of developing a medulloblastoma for people with SUFU-related Gorlin syndrome to the risk for people with a PTCH1 mutation and found that those with the PTCH1 changes had around a 2% risk of developing the brain tumors, but in those with the SUFU changes it was around 33%.


The findings, published in the Journal of Clinical Oncology, have major implications for the way in which children with Gorlin syndrome are treated and how frequently they require brain scans. Currently all children with Gorlin syndrome regardless of whether the changed gene is SUFU or PTCH1 are scanned once a year up to the age of eight.


The paper, 'Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations' was published in the Journal of Clinical Oncology.


Note: Material may have been edited for length and content. For further information, please contact the cited source.

Manchester University   press release


Publication

M. J. Smith, C. Beetz, S. G. Williams, S. S. Bhaskar, J. O'Sullivan, B. Anderson, S. B. Daly, J. E. Urquhart, Z. Bholah, D. Oudit, E. Cheesman, A. Kelsey, M. G. McCabe, W. G. Newman, D. G. R. Evans. Germline Mutations in SUFU Cause Gorlin Syndrome-Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations.   Journal of Clinical Oncology, Published Online November 17 2014. doi: 10.1200/JCO.2014.58.2569


Advertisement