Ataxia telangiectasia epidemiology and demographics: Difference between revisions
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== Epidemiology and Demographics == | == 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. | Ataxia-telangiectasia has an incidence of between 1 in 40,000 and 1 in 100,000.<ref name="pmid27884168">{{cite journal| author=Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM| title=Ataxia telangiectasia: a review. | journal=Orphanet J Rare Dis | year= 2016 | volume= 11 | issue= 1 | pages= 159 | pmid=27884168 | doi=10.1186/s13023-016-0543-7 | pmc=5123280 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27884168 }} </ref> 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. | ||
== References == | == References == | ||
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Epidemiology and Demographics
Ataxia-telangiectasia has an incidence of between 1 in 40,000 and 1 in 100,000.[1] 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.
References
- ↑ Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM (2016). "Ataxia telangiectasia: a review". Orphanet J Rare Dis. 11 (1): 159. doi:10.1186/s13023-016-0543-7. PMC 5123280. PMID 27884168.