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Article

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.

British journal of haematology - 1 Apr 2000

Stanulla M, Stümm M, Dieckvoss B O, Seidemann K, Schemmel V, Müller Brechlin A, Schrappe M, Welte K, Reiter A

Abstract excerpt

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...

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Identifiers

PMID: 10848790
DOI: 10.1046/j.1365-2141.2000.01973.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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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.PMID 10848790Read ↗

Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies.Semantic proximity Read ↗

657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls.Semantic proximity Read ↗

Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations.Semantic proximity Read ↗

Regional distribution of heterozygous 657del5 mutation carriers of the NBS1 gene in Wielkopolska province (Poland).Semantic proximity Read ↗

Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation.Semantic proximity Read ↗

Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland.Semantic proximity Read ↗

Cancer risk of heterozygotes with the NBN founder mutation.Semantic proximity Read ↗

Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.Semantic proximity Read ↗

Determination of the frequency of the common 657Del5 Nnijmegen breakage syndrome mutation in the German population: No association with risk of breast cancerSemantic proximity Read ↗

Mutations and molecular variants of the NBS1 gene in non-Hodgkin lymphoma.Semantic proximity Read ↗

Heterozygous carriers of the I171V mutation of the NBS1 gene have a significantly increased risk of solid malignant tumours.Semantic proximity Read ↗

NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia.Semantic proximity Read ↗

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