Ataxia telangiectasia epidemiology and demographics

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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Epidemiology and Demographics

Ataxia-telangiectasia has an incidence of between 1 in 40,000 and 1 in 100,000. Carrier frequency is thought to be 1:100-200. Some studies have shown that the prevalence of A-T among adults younger than age 50 is approximately 1 in 500,000. Some mutations are more common than others is certain geographical regions for example, the 7636del9 mutation is a common mutation in European populations which has been shown to increase the risk of breast cancer in carriers.