## Abstract Epidemiological studies have indicated that ataxia‐telangiectasia (AT) heterozygotes in AT families have an increased risk of cancer, particularly of breast cancer (BC). However, in BC case–control studies, no significant differences were found in the frequency of __ATM__ mutations betw
✦ LIBER ✦
ATM Mutations and Phenotypes in Ataxia-Telangiectasia Families in the British Isles: Expression of Mutant ATM and the Risk of Leukemia, Lymphoma, and Breast Cancer
✍ Scribed by T. Stankovic; A.M.J. Kidd; A. Sutcliffe; G.M. McGuire; P. Robinson; P. Weber; T. Bedenham; A.R. Bradwell; D.F. Easton; G.G. Lennox; N. Haites; P.J. Byrd; A.M.R. Taylor
- Book ID
- 117852283
- Publisher
- American Society of Human Genetics
- Year
- 1998
- Tongue
- English
- Weight
- 458 KB
- Volume
- 62
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/301706
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The functional consequences of missense variants are often difficult to predict. This becomes especially relevant when DNA sequence changes are used to determine a diagnosis or prognosis. To analyze the consequences of 12 missense variants in patients with mild forms of ataxia-telangiectasia (A-T),