No evidence for a major role of heterozygous deletion 657del5 within the NBS1 gene in the pathogenesis of non‐Hodgkin's lymphoma of childhood and adolescence
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Media type:
E-Article
Title:
No evidence for a major role of heterozygous deletion 657del5 within the NBS1 gene in the pathogenesis of non‐Hodgkin's lymphoma of childhood and adolescence
Description:
<jats:p>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 <jats:italic>NBS1</jats:italic> gene. The observation of a high incidence of cancer in close relatives of NBS patients suggests a potential pathogenetic role of <jats:italic>NBS1</jats:italic> 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 <jats:italic>NBS1</jats:italic> allele with the 657del5 mutation, suggesting that this mutation does not play a major role in the pathogenesis of NHL of childhood and adolescence.</jats:p>