Brain tumor susceptibility: From genetic predisposition syndromes to extended characterization of genomic determinants

There is still a lack of knowledge regarding the aetiology of central nervous system (CNS) tumors and the risk factors that predispose to their development. Some mutated genes are well known to be causative agents for tumorigenesis. In the most recent classification of CNS tumors, 19 genetic syndromes were correlated with brain neoplasms. Genetic predisposition has also been suspected outside hereditary syndromes. In this perspective, analyses have mainly been carried out using genome-wide association studies. A current issue is to identify genetic variants, such as single nucleotide polymorphisms (SNPs), which may increase the risk of development and progression of brain cancer. In this review, we summarize the current literature on genomic risk factors, in particular genetic tumor syndromes and genomic alterations, whether or not associated with SNPs, that predispose to brain tumor formation. These elements may be important in providing new strategies for screening and prevention. Furthermore, understanding the variations that predispose to brain tumors may suggest a better way to target the tumor with specific molecules that could interact with a driver mutation.