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Article

Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.

Clinical genetics - 1 Aug 2016

van Os N J H, Roeleveld N, Weemaes C M R, Jongmans M C J, Janssens G O, Taylor A M R, Hoogerbrugge N, Willemsen M A A P

Abstract excerpt

Ataxia-telangiectasia (AT) is an autosomal recessive neurodegenerative disorder with immunodeficiency and an increased risk of developing cancer, caused by mutations in the ataxia-telangiectasia mutated (ATM) gene. Logically, blood relatives may also carry a pathogenic ATM mutation. Female carriers of such a mutation have an increased risk of breast cancer. Other health risks for carriers are suspected but have...

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Identifiers

PMID: 26662178
DOI: 10.1111/cge.12710

Genes

ATM

Variants

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