Three-hit hypothesis in astrocytoma: tracing the polymorphism D1853N in ATM gene through a pedigree of the proband affected with primary brain tumor
Three-hit hypothesis in astrocytoma: tracing the polymorphism D1853N in ATM gene through a pedigree of the proband affected with primary brain tumor
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星形细胞瘤的三击假说：通过原发性脑肿瘤先证者家系追踪 ATM 基因 D1853N 多态性
DOI：
10.1007/s00432-008-0404-4
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发表时间：
2008
影响因子：
3.6
通讯作者：
Masoud Mehr Azin
中科院分区：
文献类型：
--
作者：
P. Mehdipour;L. Habibi;J. Mohammadi;N. Kamalian;Masoud Mehr Azin
毛细血管弛缓性共济失调突变（ATM）涉及DNA修复途径和细胞周期检查点。髓母细胞瘤、胶质瘤中有ATM改变，星形细胞瘤中无。在健康个体和成神经管细胞瘤中报道了D1853N多态性。我们可以观察到这种多态性，杂合，在一个先证者患有星形细胞瘤，并追溯其谱系。我们提出了三击假设，作为一个三角形启动器，包括D1853N作为第一个易感点，IVS 38- 63T→a作为第二点，起源于分化前的第一个体细胞进化，IVS 38- 30a→G作为第三点，通过星形细胞瘤的发展。此外，IVS 38- 63T→A和IVS 38- 30a→G的不同等位基因存在D1853N多态性。
Ataxia telangictasia mutated (ATM) is involved in DNA repair pathway and cell-cycle checkpoints. ATM alterations were found in medulloblastomas, gliomas, but not in astrocytoma. The polymorphism D1853N was reported in healthy individuals and medulloblastomas. We could observe this polymorphism, heterozygously, in a proband affected with astrocytoma and traced it through her pedigree. We propose the three-hit hypothesis as a triangle initiators includes D1853N as a first predisposing hit, IVS 38- 63T → A as a second hit deriving from the first somatic evolution before differentiation and IVS 38- 30 A → G as a third hit through the development of an astrocytoma. In addition, the D1853N polymorphism was occurred in different allele from IVS 38- 63T → A and IVS 38- 30 A → G.
影响因子：
56.9
作者：
SAVITSKY, K;BARSHIRA, A;SHILOH, Y
通讯作者：
SHILOH, Y
影响因子：
56.9
作者：
Matsuoka, S;Huang, MX;Elledge, SJ
通讯作者：
Elledge, SJ
共济失调毛细血管扩张体内体细胞突变频率升高的证据。
影响因子：
9.8
作者：
Bigbee,WL;Langlois,RG;Swift,M;Jensen,RH
通讯作者：
Jensen,RH