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Review
. 1999 May;55(5):289-304.
doi: 10.1034/j.1399-0004.1999.550501.x.

Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene

M S Meyn  1
Affiliations
Review

Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene

M S Meyn. Clin Genet. 1999 May.

Abstract

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.

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