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.
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.
authors.affiliation: Department of Paediatric Haematology and Oncology, Children's Hospital, Hannover Medical School, Germany. stanulla.martin@mh-hannover.de
authors.forename: M
authors.initials: M
authors.lastname: Stanulla
authors.forename: M
authors.initials: M
authors.lastname: Stümm
authors.forename: B O
authors.initials: BO
authors.lastname: Dieckvoss
authors.forename: K
authors.initials: K
authors.lastname: Seidemann
authors.forename: V
authors.initials: V
authors.lastname: Schemmel
authors.forename: A
authors.initials: A
authors.lastname: Müller Brechlin
authors.forename: M
authors.initials: M
authors.lastname: Schrappe
authors.forename: K
authors.initials: K
authors.lastname: Welte
authors.forename: A
authors.initials: A
authors.lastname: Reiter
mesh_terms: D000293:Adolescent; D018797:Cell Cycle Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D019457:Chromosome Breakage; D002883:Chromosomes, Human, Pair 14; D002897:Chromosomes, Human, Pair 7; D002898:Chromosomes, Human, Pair 8; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008228:Lymphoma, Non-Hodgkin / Q000235:genetics*; D008297:Male; D009687:Nuclear Proteins
chemical_list: D018797:Cell Cycle Proteins; C112156:NBN protein, human; D009687:Nuclear Proteins