Dj. Vanmeyel et al., ABSENCE OF HEREDITARY MUTATIONS IN EXON-5 THROUGH EXON-9 OF THE P53 GENE AND EXON-24 OF THE NEUROFIBROMIN GENE IN FAMILIES WITH GLIOMA, Annals of neurology, 35(1), 1994, pp. 120-122
Inherited mutations of the p53 and neurofibromin genes are thought to
cause two distinct neoplastic disorders in which gliomas occur, the Li
-Fraumeni syndrome and neurofibromatosis type 1. We investigated the p
ossibility that inherited mutations in specific regions of these genes
also contributed to the clustering of gliomas in otherwise normal fam
ilies. Twenty-six members of 16 families with glioma were screened for
germline mutations of exons 5 through 9 of the p53 gene and exon 24 o
f the neurofibromin gene using a polymerase chain reaction-single-stra
nd conformation polymorphism method. No germline mutations were found,
suggesting that the genetic basis of familial. glioma is distinct fro
m that of gliomas occurring in the Li-Fraumeni syndrome, and that inhe
rited mutations of the catalytic domain of neurofibromin do not predis
pose affected glioma families to these tumors.