Dominant Negative ATM Mutations in Breast Cancer Families

• Published in: JNCI : Journal of the National Cancer Institute Vol. 94; no. 3; pp. 205 - 215
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: Cary, NC Oxford University Press 06.02.2002; Oxford Publishing Limited (England)
• Subjects: Ataxia Telangiectasia Mutated Proteins; ATM gene; Biological and medical sciences; Blotting, Western; Breast cancer; Breast Neoplasms - genetics; Breast Neoplasms - pathology; Cell Cycle Proteins; Chromosome Mapping; DNA Mutational Analysis; DNA-Binding Proteins; Female; Gene Frequency - genetics; Genes, Dominant - genetics; Genetic Predisposition to Disease - genetics; Genetic Testing; Genotype; Gynecology. Andrology. Obstetrics; Humans; Lod Score; Male; Mammary gland diseases; Medical sciences; Microsatellite Repeats - genetics; Mutation - genetics; Pedigree; Protein-Serine-Threonine Kinases - genetics; Protein-Serine-Threonine Kinases - metabolism; Tumor Cells, Cultured; Tumor Suppressor Proteins; Tumors; Human; Mammary gland diseases; Carcinoma; Predisposition; Cytogenetics; Familial cancer; Female; Malignant tumor; Mammary gland; Mutation; Molecular biology; Carcinogenesis

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. Howeve...