New hope for better future diagnostics of brain tumours

An international consortium of researchers has conducted the largest study of malignant brain tumours to date looking for genetic markers of glioma – a highly aggressive form of brain cancer. The study, in which researchers at Umeå University participated, confirmed 13 previously identified genetic markers and also uncovered 13 new genetic markers associated with the aggressive disease. The results appear in Nature Genetics.

“In this study, we have for the first time identified a clear difference between genetic risk factors of highly aggressive and less aggressive glioma,” says Beatrice Melin, professor in oncology at the Department of Radiation Sciences at Umeå University and co-first author of the article in Nature Genetics.

“Until now, our understanding of the risk of developing glioma has been limited. In this work, we have identified new genetic markers associated with the development of this aggressive disease. This gives us a better and comprehensive genetic profile of the disease spectrum that expands our understanding of glioma susceptibility,” Beatrice Melin continues.

In 2017, approximately 24,000 people will be diagnosed with malignant brain tumours and 17,000 will die from the disease in the United States. In Sweden, about 1,100 people are annually diagnosed with brain tumours. The most common form of malignant bran tumour is glioblastoma, and each year, 3 out of 100,000 people are diagnosed in Sweden. People who are affected survive on average 12 to 15 months after diagnosis.

The research study was led by Beatrice Melin together with Melissa Bondy at Baylor College of Medicine and with the work of an international consortium of brain tumour researchers at 14 international research centres. The researchers analysed millions of genetic variations from nearly 12,500 individuals with glioma and 18,000 healthy individuals. The genetic data was obtained via genome-wide association analysis, an approach that involves scanning for markers on complete genomes in both healthy and unhealthy humans.

New insights into genetic risk factors provides new hope

Increased insight into how glioma develops improves the opportunities to develop better future surveillance, diagnostics and treatment. Knowledge on how for instance cervical cancer and breast cancer emerges has enabled better preventive measures and treatments. Researchers behind the study hopes that the knowledge on these genes and potential environmental factors can lead to similar improvements into diagnostics and more precise treatments of brain tumours. But in order to accomplish that, more research is needed on what biological function the genes have, according to Beatrice Melin.

Beatrice Melin.
Beatrice Melin, co-first author of the article in Nature Genetics. Photo: Mattias Pettersson

“The genetic markers we discovered are linked to higher susceptibility for developing brain tumours. However, each genetic marker only gives a modest increase in the risk. The next step will be to correlate these inherited variants with genetic profiles of patients’ tumours. Seeing these correlations can make us better understand how various types of glioma develop,” concludes Beatrice Melin.
Link to the publication in Nature Genetics

About the publication:

Nature Genetics, article: Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma. Authors: Beatrice Melin, Jill Barnholtz-Sloan, Margaret Wrensch, Christoffer Johansen, Dora Il’yasova, Ben Kinnersley, Quinn Ostrom, Karim Labreche, Yanwen Chen, Georgina Armstrong, Yanhong Liu, Jeanette Eckel-Passow, Paul A Decker, Marianne Labussière, Ahmed Idbaih, Khe Hoang-Xuan, Anna-Luisa Di Stefano, Karima Mokhtari, Jean-Yves Delattre, Peter Broderick, Pilar Galan, Konstantinos Gousias, Johannes Schramm, Minouk Schoemaker, Sarah Fleming, Stefan Herms, Stefanie Heilmann, Markus M Nöthen, Heinz-Erich Wichmann, Stefan Schreiber, Anthony Swerdlow, Mark Lathrop, Matthias Simon, Marc Sanson, Ulrika Andersson, Preetha Rajaraman, Stephen Chanock, Martha Linet, Zhaoming Wang, Meredith Yeager, GliomaScan Consortium, John K Wiencke, Helen Hansen, Lucie McCoy, Terri Rice, Matthew Kosel, Hugues Sicotte, Christopher Amos, Jonine L Bernstein, Faith Davis, Dan Lachance, Ching Lau, Ryan Merrell, Joellen Shildkraut, Francis Ali-Osman, Siegal Sadetzki, Michael Scheurer, Sanjay Shete, Rose Lai, Elizabeth Claus, Sara Olson, Robert Jenkins, Richard Houlston och Melissa Bondy. DOI: 10.1038/ng.3823.

For more information, please contact:

Beatrice Melin, Department of Radiation Sciences
Phone: +46 73-091 80 28
Email: [email protected]

Illustration by Elin Brander

Editor: Anna Lawrence

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