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ATM alterations in childhood non-Hodgkin lymphoma

Betts, David R
Published in Cancer Genetics and Cytogenetics. 2006, vol. 166, no. 2, p. 101-11
Abstract ATM gene alterations and impaired ATM protein expression have been described in various adult lymphoproliferative malignancies, suggesting that ATM contributes to lymphomagenesis. The present study investigated the prevalence of ATM gene and ATM protein expression alterations in sporadic childhood non-Hodgkin lymphoma (NHL). Twenty-seven cases of NHL were screened for ATM mutations by denaturing high-performance liquid chromatography (DHPLC). Direct and indirect criteria, including in silico tools, were used to classify the gene alterations. The methylation status of the ATM promoter CpG island was determined in 25 samples; ATM protein expression was assessed by Western blot in 9 lymphomas. ATM alterations were detected in 12 NHLs (44%). Ten different heterozygous base substitutions were identified in 10 NHLs (37%). Five samples (19%) were found to harbor a gene alteration considered to be a mutation or a rare variant potentially pathogenic. In one case, an ATM mutation was found in the germline. Four NHLs (44%) showed reduced or absent ATM protein expression. Except for one sample, no definite genetic or epigenetic alteration was identified to account for impaired ATM protein expression. These observations document a high prevalence of ATM gene and protein expression alterations, suggesting that ATM is involved in childhood NHL.
Keywords AdolescentAtaxia Telangiectasia Mutated ProteinsCase-Control StudiesCell Cycle Proteins/geneticsChildChild, PreschoolDNA MethylationDNA Mutational AnalysisDNA-Binding Proteins/geneticsFemaleHumansLymphoma, Non-Hodgkin/geneticsMaleMutation/geneticsPolymorphism, GeneticPromoter Regions, Genetic/geneticsProtein-Serine-Threonine Kinases/geneticsTumor Suppressor Proteins/genetics
PMID: 16631465
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Research group Oncologie et hématologie pédiatrique (907)
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GUMY PAUSE, Fabienne et al. ATM alterations in childhood non-Hodgkin lymphoma. In: Cancer Genetics and Cytogenetics, 2006, vol. 166, n° 2, p. 101-11. doi: 10.1016/j.cancergencyto.2005.09.005 https://archive-ouverte.unige.ch/unige:73117

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Deposited on : 2015-06-09

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