AUBTRG - Whole Exome Sequencing of Diffuse Glioma Samples

Large-scale studies identified mutational signatures across many cancer types. These signatures are associated with certain processes, such as aging, exposure to carcinogens and DNA Damage Repair deficiency (DDRd). To investigate the processes contributing to the formation of gliomas, we analyzed the mutational signatures in adult hemispheric diffuse gliomas (HDG). 25 HDG and paired blood samples were whole exome sequenced. In each case, somatic mutational signatures were identified. Associations of signatures with parameters including age at diagnosis, molecular subset, mutational load, and somatic and germline alterations were investigated. Our findings may suggest that DDRd is a major contributor to gliomagenesis in adult HDG.EGA study EGAS00001003035