title: The ATM gene and susceptibility to childhood T-cell acute lymphoblastic leukaemia.
abstract: Ataxia-telangiectasia (A-T) is a multisystem recessive disease characterized by cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency and increased risk of cancer. The ATM gene, responsible for A-T, was recently cloned at human chromosome band 11q22-23, a region of frequent alterations in childhood acute lymphoblastic leukaemia (ALL). Children with A-T frequently develop T-ALL. We investigated 18 T-ALL samples for ATM mutations and loss of heterozygosity (LOH) at the ATM locus. No mutations of ATM were found within the coding region in the 18 T-ALL samples, and LOH at the ATM locus was detected in three. The ATM gene appears to be an infrequently altered tumour suppressor gene in childhood T-ALL.
authors.affiliation: Division of Hematology/Oncology, Cedars-Sinai Research Institute, UCLA School of Medicine, Los Angeles, California, USA.
authors.forename: S
authors.initials: S
authors.lastname: Takeuchi
authors.forename: M
authors.initials: M
authors.lastname: Koike
authors.forename: S
authors.initials: S
authors.lastname: Park
authors.forename: T
authors.initials: T
authors.lastname: Seriu
authors.forename: C R
authors.initials: CR
authors.lastname: Bartram
authors.forename: H E
authors.initials: HE
authors.lastname: Taub
authors.forename: I K
authors.initials: IK
authors.lastname: Williamson
authors.forename: J
authors.initials: J
authors.lastname: Grewal
authors.forename: H
authors.initials: H
authors.lastname: Taguchi
authors.forename: H P
authors.initials: HP
authors.lastname: Koeffler
mesh_terms: D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins; D002648:Child; D002880:Chromosomes, Human, Pair 11; D004268:DNA-Binding Proteins; D016147:Genes, Tumor Suppressor / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D015459:Leukemia-Lymphoma, Adult T-Cell / Q000235:genetics*; D019656:Loss of Heterozygosity; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017346:Protein Serine-Threonine Kinases; D011506:Proteins / Q000235:genetics*; D025521:Tumor Suppressor Proteins
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D011506:Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases