Incidence of germ-line p53 mutations in patients with gliomas.
Epidemiological studies on intracranial tumors have suggested that the observed familial aggregation of a proportion of gliomas may be due to inherited predisposition to their development. In the Li-Fraumeni syndrome (LFS) associated with germ-line mutations of the p53 gene, nervous-system tumors are observed with increased frequency. However, the contribution of germ-line p53 mutation to the incidence of brain tumors has not been investigated. In order to address this point, we have performed 2 independent investigations. First, we have examined an unselected series of brain tumors. Whenever the presence of a p53 mutation in the tumor was observed, the possible germ-line origin of the mutation was investigated. Germ-line p53 mutations were also analyzed in constitutional DNA of patients with gliomas that had been selected for an unusual personal or familial history of cancer. Germ-line p53 mutations were detected in 1 out of 80 unselected cases and in 3 out of 15 selected cases (20%). We conclude that germ-line p53 mutation may contribute to a small fraction of gliomas that develop in the general population. The presence of a personal or familial history of cancer in a patient with glioma should prompt the search for a germ-line p53 mutation. However, the low frequency of p53 germ-line mutation suggests that alterations of this gene may not account for most familial cases of gliomas.
Li
Y J
YJ
INSERM U 434, Institut Curie, Paris, France.
Sanson
M
M
Hoang-Xuan
K
K
Delattre
J Y
JY
Poisson
M
M
Thomas
G
G
Hamelin
R
R
D000595:Amino Acid Sequence; D001483:Base Sequence; D001932:Brain Neoplasms / Q000453:epidemiology / Q000235:genetics*; D005602:France / Q000453:epidemiology; D005854:Germ Cells / Q000378:metabolism; D018095:Germ-Line Mutation; D005910:Glioma / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D010375:Pedigree; D015995:Prevalence; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
D016159:Tumor Suppressor Protein p53