Researchers Use Genome Sequencing to Determine Genes That Trigger Familial Glioma

A new study has led to the discovery of gene variants that may play a significant role in handing down glioma from a parent to their child. A glioma is a type of primary brain tumor that stems from glial cells, which support neuron function. Familial glioma usually affects members of the same family, which suggests a genetic component at play. Familial glioma cases make up at least 5% of all cases of glioma.

Various studies have shown that having a close relative with glioma heightens the risk of developing the disease by twofold. This recent study was carried out by a team of oncologists, genetic sequencing experts, gene therapists and neurosurgeons associated with one institution in Sweden and several universities within the United States.

The researchers were focused on determining the genes responsible for making some offspring more susceptible to developing glioma. For their study, they recruited 203 members from 189 families affected by glioma, collected tissue samples and then sequenced their genomes. They repeated this once more using tissue samples collected from 122 other volunteers. Once genome sequencing was concluded, the researchers then compared germline variants with the sequences conducted on more than 1,000 individuals who had no family history of glioma.

The investigators discovered 54 variants showing up in 28 genes that were disproportionately represented in families with glioma histories. More specifically, they identified copy number changes in HERC2 (HECT and RLD Domain Containing E3 Ubiquitin Protein Ligase 2), which is a protein coding gene. The researchers also discovered an overlap between genes they determined were potentially linked to familial glioma and genes that had previously been linked to other types of cancer.

In addition to this, the data demonstrated variants the scientists reported as suspicious in certain noncoding genes, suggesting that they could be party to the mediation of other gene activities. They noted that such variants also coincided with increased levels of transcription factor binding mutations upstream of a few of the genes.

In their conclusion, the researchers highlighted that their study was the first to examine the role noncoding variants played in glioma as well as the first to find a link between the HERC2 gene and predisposition to different cancer types.

The study’s findings were published in the “Science Advances” journal.

Authors and institutions involved include Dong-Joo Choi, Brittney Lozzi, Georgina Armstrong, Prashanth Vijayaraghavan, Melissa L. Bondy, Terence C. Wong, Sharon E. Plon, Eric Boerwinkle, Hsiao-Chi Chen, Donna M. Muzny, Richard A. Gibbs, Beatrice Melin, Quinn T. Ostrom, Benjamin Deneen, Matthew N. Bainbridge, the Gliogene Consortium and Genomics England Research Consortium.

While this study sheds some light on how certain brain cancers manifest in certain sections of the population, it is by no means exhaustive. A clearer picture about these malignancies is likely to emerge as several entities, such as CNS Pharmaceuticals Inc. (NASDAQ: CNSP), conduct research and add to the body of knowledge about brain cancers and how they can be treated more effectively.

NOTE TO INVESTORS: The latest news and updates relating to CNS Pharmaceuticals Inc. (NASDAQ: CNSP) are available in the company’s newsroom at

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