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

J.H. van Os, Nienke; Roeleveld, Nel; M.R. Weemaes, Corry; C.J. Jongmans, Marjolijn; O. Janssens, Geert; Malcolm R. Taylor, A.; Hoogerbrugge, N.; A.A.P. Willemsen, Michèl

doi:10.1111/cge.12710

Public

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

Published in Clinical Genetics • Dec 10, 2015

Authors:

Nienke J.H. van Os

Nel Roeleveld

Corry M.R. Weemaes

Abstract

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 ...

Subject

Ataxia-telangiectasia

Medicine

Breast cancer

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