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ATM heterozygosity and cancer risk

Biallelic mutations in ATM cause the recessive disorder ataxia-telangiectasia that is characterized by an increased susceptibility to cancer, but the link between single-copy ATM mutations and cancer has been more difficult to establish. New studies implicate missense mutations in ATM and suggest a model based on dominant interference in heterozygotes.

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Concannon, P. ATM heterozygosity and cancer risk. Nat Genet 32, 89–90 (2002). https://doi.org/10.1038/ng0902-89

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