Abstract:
:Nijmegen breakage syndrome (NBS) is an autosomal recessive DNA repair disorder with a high predisposition for lymphoid malignancies. The majority of NBS patients carry a homozygous founder mutation (657del5) within the NBS1 gene. The observation of a high incidence of cancer in close relatives of NBS patients suggests a potential pathogenetic role of NBS1 mutations in heterozygotes as well. We assessed the frequency of the 657del5 mutation in 109 paediatric patients with non-Hodgkin's lymphoma (NHL). None of the patients analysed carried a NBS1 allele with the 657del5 mutation, suggesting that this mutation does not play a major role in the pathogenesis of NHL of childhood and adolescence.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Stanulla M,Stümm M,Dieckvoss BO,Seidemann K,Schemmel V,Müller Brechlin A,Schrappe M,Welte K,Reiter Adoi
10.1046/j.1365-2141.2000.01973.xsubject
Has Abstractpub_date
2000-04-01 00:00:00pages
117-20issue
1eissn
0007-1048issn
1365-2141pii
bjh1973journal_volume
109pub_type
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