VANDERBILT (US) — A rare genetic mutation is linked to the risk of developing glioma and also appears to improve the odds of patient survival.
Gliomas are the most common—and the most deadly—type of brain tumor.
For a study published online in the Journal of Medical Genetics, researchers studied patients age 18 and older who had recently been diagnosed with glioma and genotyped 566 glioma patients and 603 control subjects, looking for a rare single nucleotide polymorphism (SNP or “snip”) known as rs78378222 in TP53, a tumor suppressor gene.
The SNP interferes with the TP53 signal and has been linked to several forms of cancer.
Participants who carried the rare SNP variant were 3.5 times more likely to develop glioma. But when the investigators examined the variant’s role in patient survival they found a 50 percent reduction in death rates for carriers of the variant.
The study was the first to confirm a rare susceptibility variant in glioma cases.
“We were surprised by the survival findings linked to this rare variant,” says Reid Thompson, professor and chair of the department of neurological surgery at Vanderbilt University. “It isn’t yet clear how or why this genetic variant affects the aggressiveness of this form of brain tumor.”
The study results “may shed light on the etiology and progression of these tumors,” and may aid in identifying individuals who are at risk for glioma.
Investigators from Emory University School of Medicine and the University of Alabama at Birmingham contributed to the study, which was funded by the National Cancer Institute of the National Institutes of Health, the Vanderbilt-Ingram Cancer Center, and the Moffitt Cancer Center in Tampa, Florida.
More news from Vanderbilt University: http://news.vanderbilt.edu/research/