The ATM gene and susceptibility to childhood T-cell acute lymphoblastic leukaemia

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...

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Main Authors: Takeuchi, Seisho (Author) , Koike, Michiaki (Author) , Park, Susan (Author) , Seriu, Taku (Author) , Bartram, Claus R. (Author) , Taub, Harry E. (Author) , Williamson, Ian K. (Author) , Grewal, Jeffrey (Author) , Taguchi, Hirokuni (Author) , Koeffler, H. Phillip (Author)
Format: Article (Journal)
Language:English
Published: 1998
In: British journal of haematology
Year: 1998, Volume: 103, Issue: 2, Pages: 536-538
ISSN:1365-2141
DOI:10.1046/j.1365-2141.1998.00993.x
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1046/j.1365-2141.1998.00993.x
Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1046/j.1365-2141.1998.00993.x
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Author Notes:Seisho Takeuchi, Michiaki Koike, Susan Park, Taku Seriu, Claus R. Bartram, Harry E. Taub, Ian K. Williamson, Jeffrey Grewal, Hirokuni Taguchi, H. Phillip Koeffler
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Summary: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.
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ISSN:1365-2141
DOI:10.1046/j.1365-2141.1998.00993.x