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The ATM gene and susceptibility to childhood T‐cell acute lymphoblastic leukaemia
Author(s) -
Takeuchi Seisho,
Koike Michiaki,
Park Susan,
Seriu Taku,
Bartram Claus R.,
Taub Harry E.,
Williamson Ian K.,
Grewal Jeffrey,
Taguchi Hirokuni,
Koeffler H. Phillip
Publication year - 1998
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1998.00993.x
Subject(s) - ataxia telangiectasia , loss of heterozygosity , locus (genetics) , gene , tumor suppressor gene , biology , genetics , cancer research , allele , carcinogenesis , dna , dna damage
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.