New research led by the Lunenfeld-Tannenbaum Research Institute, Mount Sinai Hospital, Toronto; Mayo Clinic Comprehensive Cancer Center; and Mayo Clinic Center for Individualized Medicine has identified the biologic mechanism of a germline alteration that may be critical for developing new therapies to treat and prevent a type of brain tumor.

The study, co-authored by Robert Jenkins, M.D., Ph.D., a Ting Tsung and Wei Fong Chao Professor in Individualized Medicine Research and researcher in Mayo Clinic’s Department of Laboratory Medicine and Pathology, found that animal models who carry the germline alteration, called rs55705857, developed larger gliomas — and in half the time — compared to animal models that did not carry the alteration. Their findings are published in the Oct. 7, 2022, issue of the journal Science and the results have relevance to other cancers and diseases.

“While we understand much of the biologic function of germline alterations within genes that code for proteins, we know very little about the biologic function of germline alterations outside of genes that code for proteins. In some way, these germline alterations interact with other mutations in cells to accelerate tumor formation," Dr. Jenkins says. “Based on this new understanding of its mechanism of action, future research may lead to novel and specific therapies that target the rs55705857 alteration.”

Read more in the journal Science.