Summary of Stanford Scientists Identify Genes Linked to Familial Brain Cancer:
Researchers from Stanford Medicine have discovered over 50 genes associated with glioma, a rare type of brain cancer, through a global collaboration involving over 15,000 participants, including around 350 cases of familial glioma. The study found that two genes associated with glioma are also related to ovarian and colon cancers, providing potential avenues for screening and treatment. The study, published in Science Advances, identified six specific mutations in one gene, HERC2, involved in DNA repair and cell cycle control, which had not previously been linked to cancer. Although most gliomas occur spontaneously, a small fraction is inherited through genetic predisposition.
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New Genetic Research Identifies Genes Associated with Rare Brain Cancer
A global collaboration between researchers from Stanford Medicine, the University of Texas Health Science Center, Duke University, and Umea University in Sweden has identified over 50 genes associated with glioma, a rare brain cancer. While the majority of gliomas occur spontaneously, a small fraction is inherited. The study aimed to investigate the potential genetic roots of the disease, with a particular focus on the rare familial glioma subtype.
Background: Glioma is a rare and devastating type of brain cancer, with approximately 24,000 diagnoses yearly in the United States. Fewer than 5% of gliomas are familial, meaning they affect two or more members of the same family.
A Family’s Experience: Sisters Carrie Davis Lebovich and Hadley Rierson struggled when their father, Jon Davis, 69, was diagnosed with glioblastoma. The same type of brain cancer had taken their grandmother’s life three decades earlier. After some dogged research, the sisters discovered that, contrary to what they had been told, a small minority of glioma cases are familial. Pinpointing the genes involved could not only help identify which members of affected families have an increased risk of brain cancer but also shed light on the biology of the disease and drive future treatments. To do so, they needed genetic samples from as many patients and their family members as possible, and thus the sisters immediately signed on.
Findings: Bondy and her colleagues have identified several genes associated with familial glioma, two of which are also associated with ovarian and colon cancers. They also found mutations in three genome locations called non-coding regions that affect which genes are made into proteins. The researchers used CRISPR genetic engineering to delete several candidate genes in embryonic mice treated to develop glioma. They saw that the loss of three of them correlated with decreased survival and increased tumor growth in the animals.
The Value of The Findings: “The identification of these new genes and non-coding regions is of immense value to families affected by glioma,” said Bondy, “The discovery provides the opportunity to explain to affected families why they are at risk, offer peace of mind to those who do not carry the causative mutation, and improve monitoring for those who do.”
Hope for the Future: For Lebovich and Rierson; the study brings hope. Any lingering chance that their family’s brain cancers were coincidental vanished when their father’s sister died from a glioma in 2017. They’ve devoted their time and energy to spreading the word about familial glioma and encouraging people in affected families to join the glycogen study. “Melissa and the Gliogene collaborators are our only hope for the future generations of our family,” said Lebovich. “But we need people to participate in the study. The more genes we know are associated, the better you can screen potential carriers and possibly tailor treatments. But you can’t do anything if you don’t know the genes.”
Conclusion: The findings of this study provide potential avenues for screening and future treatment of glioma, a rare and aggressive type of brain cancer. The study encourages those who feel their families may be affected by familial glioma to visit gliogene.org to learn more and participate in the study. Through further research, it may be possible to provide peace of mind to those at an increased risk of brain cancer and develop more effective treatment options.
