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- Title
Three-hit hypothesis in astrocytoma: tracing the polymorphism D1853N in ATM gene through a pedigree of the proband affected with primary brain tumor.
- Authors
Mehdipour, Parvin; Habibi, Laleh; Mohammadi-Asl, Javad; Kamalian, Naser; Azin, Masoud Mehr
- Abstract
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.
- Subjects
ASTROCYTOMAS; DNA; MEDULLOBLASTOMA; BRAIN tumors; ATAXIA telangiectasia
- Publication
Journal of Cancer Research & Clinical Oncology, 2008, Vol 134, Issue 11, p1173
- ISSN
0171-5216
- Publication type
Article
- DOI
10.1007/s00432-008-0404-4