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

Author:

van Os N.J.H.1,Roeleveld N.23,Weemaes C.M.R.3,Jongmans M.C.J.4,Janssens G.O.5,Taylor A.M.R.6,Hoogerbrugge N.4,Willemsen M.A.A.P.1

Affiliation:

1. Department of Neurology - Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour; Nijmegen The Netherlands

2. Department for Health Evidence, Radboud Institute for Health Sciences; Nijmegen The Netherlands

3. Department of Pediatrics, Radboudumc Amalia Children's Hospital; Nijmegen The Netherlands

4. Department of Human Genetics, Radboud Institute for Molecular Life Sciences; Radboud university medical center; Nijmegen The Netherlands

5. Department of Radiation Oncology; University Medical Center Utrecht and Princess Maxima Center for Pediatric Oncology; Utrecht The Netherlands

6. School of Cancer Sciences; University of Birmingham; Birmingham UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference68 articles.

1. A single ataxia telangiectasia gene with a product similar to PI-3 kinase;Savitsky;Science,1995

2. Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection;Boder;Pediatrics,1958

3. Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations;Gatti;Mol Genet Metab,1999

4. Breast and other cancers in families with ataxia-telangiectasia;Swift;N Engl J Med,1987

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