Over-representation of a polymorphism/missense mutation in the ataxia telangiectasia, mutated (ATM) gene in breast cancer patients versus controls
β Scribed by T.A. Buchholz; M.D. Story; C.L. Ashorn; R. Chakraborty; E.A. Strom; J.D. Cox; M.D. McNeese; M.M. Weil
- Book ID
- 117658824
- Publisher
- Elsevier Science
- Year
- 2001
- Tongue
- English
- Weight
- 161 KB
- Volume
- 37
- Category
- Article
- ISSN
- 0959-8049
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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),
## Abstract ## BACKGROUND Mothers of children who have ataxia telangiectasia have been reported to be at increased risk for development of breast carcinoma. To test whether sequence variants in the ataxia telangiectasia, mutated, gene (__ATM__) are associated with breast carcinoma, the authors com