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The Role of Genetic Factors in Ependymoma Susceptibility

Brain tumors are rare and when combined with other nervous system tumors account for ~ 2% of all cancers; however, they are the second most common type of pediatric cancer and the leading cause of childhood cancer-related mortality. The etiology and molecular features of most pediatric brain tumors is poorly understood. Exposure to ionizing radiation and several inherited disorders are the only established risk factors for brain tumors, and these factors contribute to only a small proportion of cases. Thus, it has been suggested that brain tumorigenesis results from complex interactions between genetic and epigenetic variations in concert with exposure to environmental factors.

Despite the extensive research, a small proportion of genetic variants contributing to the genetic architecture of brain tumors are detected. To date, the published genome-wide association studies (GWAS) on adult brain tumors have been largely conducted on pooled histological subtypes of glioma. However, recently it has been shown that of the currently identified variants, eleven single nucleotide polymorphisms (SNPs) were significantly associated with glioblastoma while eighteen SNPs showed significant associations with non-glioblastoma glioma . In addition, the role of genetic variation in pediatric brain tumor etiology is largely unknown. Currently, there are no published GWAS on pediatric brain tumors. Given the importance of identifying validated genetic associations for a better understanding of pediatric brain tumorigenesis, conducting GWAS is necessary and this topic merits further research.

The purpose of the project is to identify genetic variants of importance for pediatric brain tumor etiology and to investigate the potential similarities in etiological pathways between adult and pediatric brain tumors.