ATM (Ataxia Telangiectasia Mutated) Gene Mutation Analysis

Ataxia Telangiectasia
Certain Leukemias and Lymphomas
(T-PLL, B-CLL, Mantle Cell Lymphomas)

Germline mutations in the ATM gene cause the autosomal recessive neurological disease ataxia telangiectasia (A-T). The prevalence of A-T is ~1/40,000 – 1/100,000 affected individuals, with a carrier frequency of ~1/100. A-T is characterized by progressive cerebellar degeneration, immunodeficiency, radiation sensitivity, and a predisposition to cancer development. Heterozygous ATM mutations have also been found in some patients with T-cell prolymphocytic leukemia (T-PLL)1, B-cell chronic lymphocytic leukemia (B-CLL)2, 3 and mantle cell lymphoma4. Identification of both ATM gene mutations in A-T patients may permit identification of carriers in these families. Greater than 500 uniuqe mutations have been identified in ATM. Identification of heterozygous ATM mutations may also identify individuals with an increased risk for certain cancers, such as leukemias, lymphomas, and breast.

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ATM Gene Mutation Analysis Assay Summary (in portable document format (pdf) which requires Adobe® Acrobat® Reader™ to view or print; download latest version free)

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  1. Vorechovsky, I. et al. (1997). Nature Genet. 17: 96-99.
  2. Bullrich, F. et al. (1999). Cancer Res. 59: 24-27.
  3. Stankovic, T. et al. (1999). The Lancet 353: 26-29.
  4. Stilgenbauer, S. et al. (1999). Blood 94: 3262-3264.