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Blood, 15 July 2002, Vol. 100, No. 2, pp. 603-609
NEOPLASIA
ATM mutations are rare in familial chronic
lymphocytic leukemia
Martin R. Yuille,
Alison Condie,
Chantelle D. Hudson,
Paul S. Bradshaw,
Elaine M. Stone,
Estella Matutes,
Daniel Catovsky, and
Richard S. Houlston
From Academic Department of Haematology and
Cytogenetics; Section of Cancer Genetics, Institute of Cancer Research,
Sutton, Surrey, United Kingdom.
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.

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