Abstract
The presence of a personnel or familial history of cancer in a patient with primary brain tumor should prompt the search for genetic predisposition. Familial aggregation of brain tumors and especially gliomas has been reported in 5–7% of the cases. Rarely, familial gliomas can be attributed to hereditary multisystem syndromes. In majority of the cases, a hereditary syndrome cannot be identified and genetic alterations predisposing to familial gliomas are not clearly identified. Studies investigating candidate loci in glioma families have frequently examined TP53 gene which encodes p53, a checkpoint protein that plays a crucial role in DNA damage repair and apoptosis. Although occasional germline TP53 mutations were reported in glioma families, the frequency remained low (2.5–6.7%). However, germline TP53 mutations are more incriminated in glioma patients with multifocality or secondary malignancy, particularly if these factors are combined. Moreover, a functional single nucleotide polymorphism at codon 72 of TP53 gene was found to be associated with earlier onset of sporadic glioblastomas, opening new insights into the role of low-risk variants as genetic susceptibility to develop brain tumors. This chapter reviews the genetic predisposition in brain tumors and highlights the role of TP53 gene in familial gliomas, and in other forms of genetic predisposition or susceptibility to gliomas.
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Hallani, S.E., Ratbi, I. (2011). Familial Gliomas: Role of TP53 Gene. In: Hayat, M. (eds) Tumors of the Central Nervous System, Volume 2. Tumors of the Central Nervous System, vol 2. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-0618-7_5
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DOI: https://doi.org/10.1007/978-94-007-0618-7_5
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