A large-scale genetic study that Institut du Cerveau – ICM researchers took part in, within an international consortium, highlights the relationship between genetic profiles of patients and varying susceptibility to different types of brain tumors.
Gliomas represent roughly 27% of primitive brain tumors, meaning tumors that originate directly within the brain. They are split up into two main categories: glioblastomas, the most aggressive (high-grade gliomas), and low-grade gliomas. Despite current treatment options including chemotherapy, radiotherapy and surgery, glioma prognosis is generally poor. A better understanding of tumor development is crucial.
Currently, no link between environmental factors and tumor development has been found. Research on genetic predisposition and familial risk in glioma development, however, has recently accelerated in part owing to pangenome assembly studies. These studies analyze genetic variations in many individuals with the same illness in order to study correlation with the illness.
Recent research on gliomas identified 13 new DNA areas involved in brain tumor predisposition. To continue these efforts in understanding glioma development, a multicenter study combined former pangenome assembly studies with 2 more recent studies with the participation of Institut du Cerveau – ICM researchers. Researchers analyzed a total of 12,496 cases and 18,190 control subjects.
In addition to the previously identified areas, researchers highlighted DNA areas that are “at risk” for glioma development. A specific DNA mutation in these areas may be linked to higher risk of developing a glioma-type brain tumor. 5 new areas were identified for glioblastomas, and 8 for low-grade gliomas.
This study is the largest pangenome assembly study on gliomas to date. On the whole, results highlight crucial data on specific assemblies for different subtypes of glioma and highlight the polygenic (linked to a set of genes) aspect of glioma predisposition.
Further research on pangenome assembly as well as functional analyses are necessary to gain a deeper understanding of the biological and developmental aspects of the various types of glioma. Studies may help acquire highly useful information for the implementation of new therapy and tailored treatment.
Source : Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. Melin BS, Barnholtz-Sloan JS, Wrensch MR, Johansen C, Il’yasova D, Kinnersley B, Ostrom QT, Labreche K, Chen Y, Armstrong G, Liu Y, Eckel-Passow JE, Decker PA, Labussière M, Idbaih A, Hoang-Xuan K, Di Stefano AL, Mokhtari K, Delattre JY, Broderick P, Galan P, Gousias K, Schramm J, Schoemaker MJ, Fleming SJ, Herms S, Heilmann S, Nöthen MM, Wichmann HE, Schreiber S, Swerdlow A, Lathrop M, Simon M, Sanson M, Andersson U, Rajaraman P, Chanock S, Linet M, Wang Z, Yeager M; GliomaScan Consortium, Wiencke JK, Hansen H, McCoy L, Rice T, Kosel ML, Sicotte H, Amos CI, Bernstein JL, Davis F, Lachance D, Lau C, Merrell RT, Shildkraut J, Ali-Osman F, Sadetzki S, Scheurer M, Shete S, Lai RK, Claus EB, Olson SH, Jenkins RB, Houlston RS, Bondy ML. Nat Genet. 2017 May;49(5):789-794.