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Article

Multiplex single-tube screening for mutations in the Nijmegen Breakage Syndrome (NBS1) gene in Hodgkin's and non-Hodgkin's lymphoma patients of Slavic origin.

European journal of human genetics : EJHG - 1 May 2003

Soucek Pavel, Gut Ivan, Trneny Marek, Skovlund Eva, Grenaker Alnaes Grethe, Kristensen Tom, Børresen-Dale Anne-Lise, Kristensen Vessela N

Abstract excerpt

Patients with Nijmegen Breakage Syndrome (NBS) have a high risk to develop malignant diseases, most frequently B-cell lymphomas. It has been demonstrated that this chromosomal breakage syndrome results from mutations in the NBS1 gene that cause either a loss of full-length protein expression or e...

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Identifiers

PMID: 12734548
DOI: 10.1038/sj.ejhg.5200972

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12734548-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Multiplex single-tube screening for mutations in the Nijmegen Breakage Syndrome (NBS1) gene in Hodgkin's and non-Hodgkin's lymphoma patients of Slavic origin.PMID 12734548Read ↗

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

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

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

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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 ↗

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