Stanford Scientists Identify Genes Linked to Familial Brain Cancer — A global collaboration dir |
, directs an international consortium called Gliogene aimed at identifying genes involved in familial glioma — a class of brain cancer that includes glioblastoma.
Most gliomas are sporadic and seem to have no clear genetic cause. Only about 5% of gliomas are familial, afflicting two or more members of the same family. Bondy and her colleagues want to identify the genes involved in these, the rarest cases of an already rare cancer. But to do so they need to enroll as many people as possible in the Gliogene study. So far, the study has enrolled over 15,000 people and identified about 350 cases of familial glioma.
They found six mutations in one gene, called HERC2, that were associated with familial glioma. The protein made from the HERC2 gene is involved in the repair of damaged DNA and the control of the cell cycle. Although these roles are shared with many other cancer-associated proteins, the HERC2 protein was not previously associated with cancer.
All told, the researchers identified 54 mutations in 28 genes or non-coding regions that were associated with familial glioma in 50 out of 304 families in the Gliogene study. Many of the genes are involved in cell division, blood vessel development, and immune regulation — all factors that can contribute to tumor growth.
“Hadley and I had so many doors shut on us,” Lebovich said. “It felt very lonely. It was hard to get information; we were told to move on. But when we reached out to Melissa, she was on the phone with us that same day. It was such a huge relief. She has been an unbelievable partner.”
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