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Ataxia Telangiectasia
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1. ATM activation is accompanied with earlier stages of prostate tumorigenesis.
Match Strength: 6.116

The ATM (ataxia telangiectasia mutated) kinase plays an essential role in maintaining genome integrity by coordinating cell cycle arrest, apoptosis, and DNA damage repair. Phosphorylation of ATM at serine 1981 (ATMpSer1981) by DNA damage activates ATM, which subsequently phosphorylates H2AX Ser139 (gammaH2AX), Chk2 Thr68 (Chk2pThr68), and p53 Ser15 (p53pSer15). To determine the role of the ATM pathway in prostate cancer tumorigenesis, we have analyzed 35 primary prostate cancer specimens for ATMpSer1981 (ATM activation), Chk2pThr68, gammaH2AX, and p53pSer15 by immunohistochemistry (IHC) in ... Read More »
» Published in Biochim Biophys Acta. 2006 Oct;1763(10):1090-7. Epub 2006 Aug 24.

2. Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling.
Match Strength: 5.181

Mutations in ATM are responsible for the autosomal recessive disorder ataxia telangiectasia. Heterozygous mutations in ATM have been associated with an elevated risk of breast cancer. We previously reported one breast cancer family in which ATM 7271T>G (V2424G) segregated with disease, and apparently acted in a dominant negative manner. We now report the screening of 782 multiple-case breast cancer families that identified two additional index cases with ATM 7271T>G. Phylogenetic sequence analysis showed that V2424 is a highly conserved residue, and that the 2424G variant is likely to ... Read More »
» Published in Genes Chromosomes Cancer. 2006 Dec;45(12):1169-81.

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