title: Disruption of the ATM gene in breast cancer.
abstract: Mutations in the ATM gene, which maps to 11q22-23, cause the multisystem recessive syndrome ataxia-telangiectasia (AT). Breast cancer has been reported in AT patients and carriers. Sporadic breast cancer is associated with loss of heterozygosity at or in the region of ATM and chromosomal abnormalities involving 11q23. We have investigated the chromosomes, nuclei and released chromatin fibers from nine primary breast carcinoma and eight cell lines by fluorescence in situ hybridization with four fluorochrome-labeled cosmids spanning the ATM gene. The ATM gene was disrupted in one primary breast carcinoma and in the cell lines MDA-MB-231 and MCF-7. The role of these aberrations in breast carcinomas, which may lead to gene dosage or dominant negative effects on gene function, requires further investigation.
authors.affiliation: Molecular Cytogenetics, Haddow Laboratories, Institute of Cancer Research, 15 Cotswold Road, Sutton, SM2 5NG, Surrey, UK.
authors.forename: Y
authors.initials: Y
authors.lastname: Lu
authors.forename: A
authors.initials: A
authors.lastname: Condie
authors.forename: J D
authors.initials: JD
authors.lastname: Bennett
authors.forename: M J
authors.initials: MJ
authors.lastname: Fry
authors.forename: M R
authors.initials: MR
authors.lastname: Yuille
authors.forename: J
authors.initials: J
authors.lastname: Shipley
mesh_terms: D064007:Ataxia Telangiectasia Mutated Proteins; D001943:Breast Neoplasms / Q000235:genetics*; D018797:Cell Cycle Proteins; D002869:Chromosome Aberrations; D002880:Chromosomes, Human, Pair 11; D004268:DNA-Binding Proteins; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D019656:Loss of Heterozygosity; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D025521:Tumor Suppressor Proteins
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases