Science is an important clue to the prevention and glioma

Research led by the Lunenfeld-Tannenbaum Institute (LTRI) at Mount Sinai Hospital in Toronto, the Mayo Clinic Comprehensive Cancer Center and the Mayo Clinic Personalized Medicine Center has uncovered an important new clue
to the prevention and treatment of glioma.
The study, published in the journal Science, provides a rare window
into the biological changes behind glioma development.
The researchers found that animal models that carried the germline variant rs55705857 DNA changes developed gliomas more frequently and for a shorter
time than animal models without such variants.
In addition to brain tumors, the findings have also been linked to
other cancers and diseases.

"While we have a great deal of understanding of the biological function of germline-altered germline alterations in genes that encode proteins, we know very little
about the biological functions of germline-altered germline changes outside of genes encoding proteins.
" To some extent, these germline changes interact with other mutations in the cells to accelerate tumor formation," said
Robert Jenkins, MD, a genetics researcher at the Mayo Clinic in Rochester.
"Based on this new understanding of its mechanism of action, future research could lead to new and specific treatments
for the rs55705857 mutation.
"

This study provides new knowledge that can help clinicians determine if a patient has a glioma
before surgery.

"We expected rs55705857 to accelerate the development of low-grade gliomas, but we were surprised by the magnitude of this acceleration," said co-first author Daniel Schramek, Ph.
D.
, a researcher at
the Lunenfeld-Tannenbaum Institute.

In addition to the genes associated with the occurrence of cancer and other diseases, Schramek said, there are many alterations, possibly thousands, but only a tiny minority of people understand their mechanisms of
action.
This study suggests that with the help of modern molecular/cell biology tools, it is possible to decipher much of the mechanism
of action of this change.

Connor Yanchus, Kristen L.
Drucker, Thomas M.
Kollmeyer, Ricky Tsai, Warren Winick-Ng, Minggao Liang, Ahmad Malik, Judy Pawling, Silvana B.
De Lorenzo, Asma Ali, Paul A.
Decker, Matt L.
Kosel, Arijit Panda, Khalid N.
Al-Zahrani, Lingyan Jiang, Jared W.
L.
Browning, Chris Lowden, Michael Geuenich, J.
Javier Hernandez, Jessica T.
Gosio, Musaddeque Ahmed, Sampath Kumar Loganathan, Jacob Berman, Daniel Trcka, Kulandaimanuvel Antony Michealraj, Jerome Fortin, Brittany Carson, Ethan W.
Hollingsworth, Sandra Jacinto, Parisa Mazrooei, Lily Zhou, Andrew Elia, Mathieu Lupien, Housheng Hansen He, Daniel J.
Murphy, Liguo Wang, Alexej Abyzov, James W.
Dennis, Philipp G.
Maass, Kieran Campbell, Michael D.
Wilson, Daniel H.
Lachance, Margaret Wrensch, John Wiencke , Tak Mak, Len A.
Pennacchio, Diane E.
Dickel, Axel Visel, Jeffrey Wrana, Michael D.
Taylor, Gelareh Zadeh, Peter Dirks, Jeanette E.
Eckel-Passow, Liliana Attisano, Ana Pombo, Cristiane M.
Ida, Evgeny Z.
Kvon, Robert B.
Jenkins, Daniel Schramek.
A noncoding single-nucleotide polymorphism at 8q24 drives IDH1 -mutant glioma formation.
Science, 2022; 378 (6615): 68