Article
Dominant negative ATM mutations in breast cancer families.
Journal of the National Cancer Institute - 6 Feb 2002
Chenevix-Trench Georgia, Spurdle Amanda B, Gatei Magtouf, Kelly Helena, Marsh Anna, Chen Xiaoqing, Donn Karen, Cummings Margaret, Nyholt Dale, Jenkins Mark A, Scott Clare, Pupo Gulietta M, Dörk Thilo, Bendix Regina, Kirk Judy, Tucker Katherine, McCredie Margaret R E, Hopper John L, Sambrook Joseph, Mann Graham J, Khanna Kum Kum
Abstract excerpt
BACKGROUND: The ATM gene encoding a putative protein kinase is mutated in ataxia-telangiectasia (A-T), an autosomal recessive disorder with a predisposition for cancer. Studies of A-T families suggest that female heterozygotes have an increased risk of breast cancer compared with noncarriers. However, neither linkage analyses nor mutation studies have provided supporting evidence for a role of ATM in breast...
Topics
- Ataxia Telangiectasia Mutated Proteins
- Blotting, Western
- Breast Neoplasms
- Cell Cycle Proteins
- Chromosome Mapping
- DNA Mutational Analysis
- DNA-Binding Proteins
- Female
- Gene Frequency