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Published: 2023-05-08

Discovery of genes behind brain tumor

NEWS An international team with participation from Umeå University has traced variants in seven genes that are important for the development of glioma, the most common form of brain tumor. The results of studies unprecedented in the world are published in the prestigious journal Science Advances.

Text: Claes Björnberg

The team behind the studies is called The Gliogene Consortium, which was formed in 2007 and consists of about 25 researchers from 15 different centers. Since its inception, they have asked 15,000 brain tumor patients about their family history of brain tumors and cancer, and collected blood samples.

– It is the largest collection of glioma families in the world, says Beatrice Melin, professor and senior physician at the Department of Radiation Sciences, Umeå University, who founded the consortium together with Melissa Bondy at Stanford University.

In Sweden, approximately 500 people get glioma every year, and both young and old can get it. The Gliogene consortium has been working to understand the genetic causes of glioma. Fortunately, several people in the same family are affected by glioma; it occurs in about 5 percent of all cases.

Genetic testing and treatments?

A recently completed study included 203 glioma patients from 189 glioma families. The team saw an overrepresentation of 54 variants in 28 genes, including seven genes affected by rare deleterious mutations. This applies, among other things, to the gene HERC2.

– Our study is the first to link HERC2 to glioma. We now need to find more glioma families who have the HERC2 genetic predisposition to be able to understand what type of glioma these individuals are at risk of getting and how strong the impact of the genetic predisposition is. Only when you know that, can you see if you can offer some kind of genetic test to family members in these families. Another possible way to be able to use the knowledge is if targeted treatments are created against the gene, then it can also be used for glioma. It is a development of research that I would like to see in the future, says Beatrice Melin.

The article The genomic landscape of familial glioma

Beatrice Melin's research group