ATM mutations are rare in familial chronic lymphocytic leukemia

Martin Yuille, Alison Condie, Chantelle D. Hudson, Paul S. Bradshaw, Elaine M. Stone, Estella Matutes, Daniel Catovsky, Richard S. Houlston

    Research output: Contribution to journalArticlepeer-review


    It is now recognized that a subset of B-cell chronic lymphocytic leukemia (CLL) is familial. The genetic basis of familial CLL is poorly understood, but recently germ line mutations in the Ataxia Telangiectasia (ATM) gene have been proposed to confer susceptibility to CLL. The evidence for this notion is, however, not unequivocal. To examine this proposition further we have screened the ATM gene for mutations in CLLs from 61 individuals in 29 families. Truncating ATM mutations, including a known ATM mutation, were detected in 2 affected individuals, but the mutations did not cosegregate with CLL in the families. In addition, 3 novel ATM missense mutations were detected. Common ATM missense mutations were not overrepresented. The data support previous observations that ATM mutation is associated with B-CLL. However, ATM mutations do not account for familial clustering of the disease. © 2002 by The American Society of Hematology.
    Original languageEnglish
    Pages (from-to)603-609
    Number of pages6
    Issue number2
    Publication statusPublished - 15 Jul 2002


    • Adult
    • Aged
    • Aged,80 and over
    • Ataxia Telangiectasia
    • Cell Cycle Proteins
    • DNA Mutational Analysis
    • DNA Primers
    • DNA-Binding Proteins
    • Family
    • Family Health
    • Female
    • Gene Frequency
    • Genetic Predisposition to Disease
    • Genetic Screening
    • genetics
    • Humans
    • Leukemia,Lymphocytic,Chronic,B-Cell
    • Male
    • Middle Aged
    • Mutation
    • Protein-Serine-Threonine Kinases
    • Proteins
    • Tumor Suppressor Proteins


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