Incidence of germ-line p53 mutations in patients with gliomas
Incidence of germ-line p53 mutations in patients with gliomas
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DOI：
10.1002/ijc.2910640606
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发表时间：
1995-12-20
影响因子：
6.4
通讯作者：
Hamelin, R
中科院分区：
文献类型：
--
作者：
Li, YJ;Sanson, M;Hamelin, R
颅内肿瘤的流行病学研究表明，所观察到的一部分神经胶质瘤的家族聚集性可能是由于遗传易感性，以他们的发展。在与p53基因生殖系突变相关的Li-Fraumeni综合征（LFS）中，观察到神经系统肿瘤的发生频率增加。然而，生殖系p53突变对脑肿瘤发病率的贡献尚未研究。为了解决这一问题，我们进行了两次独立调查。首先，我们检查了一系列脑肿瘤。每当观察到肿瘤中存在p53突变时，研究突变的可能种系起源。此外，还分析了因不寻常的个人或家族癌症史而选择的胶质瘤患者的组成DNA中的生殖系p53突变。生殖系p53突变检测在80例中的1例和15例中的3例（20%）。我们的结论是，生殖系p53突变可能有助于一小部分的神经胶质瘤，在一般人群中发展。胶质瘤患者的个人或家族癌症史的存在应促使对生殖系p53突变的研究。然而，低频率的p53生殖系突变表明，该基因的改变可能无法解释大多数家族性胶质瘤病例。(C)1995 Wiley-Liss，Inc.
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 I 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. (C) 1995 Wiley-Liss, Inc.