| First Author | Meyn MS | Year | 1999 |
| Journal | Clin Genet | Volume | 55 |
| Issue | 5 | Pages | 289-304 |
| PubMed ID | 10422797 | Mgi Jnum | J:56074 |
| Mgi Id | MGI:1340064 | Doi | 10.1034/j.1399-0004.1999.550501.x |
| Citation | Meyn MS (1999) Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene. Clin Genet 55(5):289-304 |
| abstractText | Ataxia-telangiectasia (A-T) is a pleiotropic inherited disease characterized by neurodegeneration, cancer, immunodeficiencies, radiation sensitivity, and genetic instability. Although A-T homozygotes are rare, the A-T gene may play a role in sporadic breast cancer and leukemia. ATM, the gene responsible for A-T, is homologous to several cell cycle checkpoint genes from other organisms. ATM is thought to play a crucial role in a signal transduction network that modulates cell cycle checkpoints, genetic recombination, apoptosis, and other cellular responses to DNA damage. New insights into the pathobiology of A-T have been provided by the creation of Atm-/- mice and by in vitro studies of ATM function. Analyses of ATM mutations in A-T patients and in sporadic tumors suggest the existence of two classes of ATM mutation: null mutations that lead to A-T and dominant negative missense mutations that may predispose to cancer in the heterozygous state. |
