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. 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 tumours, 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 research was funded by the British Skin Foundation.
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.
Jamie Brown | EurekAlert!
Researchers release the brakes on the immune system
18.10.2017 | Rheinische Friedrich-Wilhelms-Universität Bonn
Norovirus evades immune system by hiding out in rare gut cells
12.10.2017 | University of Pennsylvania School of Medicine
University of Maryland researchers contribute to historic detection of gravitational waves and light created by event
On August 17, 2017, at 12:41:04 UTC, scientists made the first direct observation of a merger between two neutron stars--the dense, collapsed cores that remain...
Seven new papers describe the first-ever detection of light from a gravitational wave source. The event, caused by two neutron stars colliding and merging together, was dubbed GW170817 because it sent ripples through space-time that reached Earth on 2017 August 17. Around the world, hundreds of excited astronomers mobilized quickly and were able to observe the event using numerous telescopes, providing a wealth of new data.
Previous detections of gravitational waves have all involved the merger of two black holes, a feat that won the 2017 Nobel Prize in Physics earlier this month....
Material defects in end products can quickly result in failures in many areas of industry, and have a massive impact on the safe use of their products. This is why, in the field of quality assurance, intelligent, nondestructive sensor systems play a key role. They allow testing components and parts in a rapid and cost-efficient manner without destroying the actual product or changing its surface. Experts from the Fraunhofer IZFP in Saarbrücken will be presenting two exhibits at the Blechexpo in Stuttgart from 7–10 November 2017 that allow fast, reliable, and automated characterization of materials and detection of defects (Hall 5, Booth 5306).
When quality testing uses time-consuming destructive test methods, it can result in enormous costs due to damaging or destroying the products. And given that...
Using a new cooling technique MPQ scientists succeed at observing collisions in a dense beam of cold and slow dipolar molecules.
How do chemical reactions proceed at extremely low temperatures? The answer requires the investigation of molecular samples that are cold, dense, and slow at...
Scientists from the Max Planck Institute of Quantum Optics, using high precision laser spectroscopy of atomic hydrogen, confirm the surprisingly small value of the proton radius determined from muonic hydrogen.
It was one of the breakthroughs of the year 2010: Laser spectroscopy of muonic hydrogen resulted in a value for the proton charge radius that was significantly...
17.10.2017 | Event News
10.10.2017 | Event News
10.10.2017 | Event News
20.10.2017 | Information Technology
20.10.2017 | Materials Sciences
20.10.2017 | Interdisciplinary Research