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[Heterozygous carriers of Slavic mutation 657del5 of NBN gene in patients with colorectal cancer].

Casopis lekaru ceskych - 1 Jan 2011

Seemanová Eva, Hoch Jirí, Seeman Pavel

Abstract excerpt

BACKGROUND: Nijmegen breakage syndrome (NBS) is one of the chromosomal instability syndromes due to DNA repair disorder. The syndrome is autosomal recessive determined, in homozygotes is characterized by many disorders including high predisposition to lymphoreticular malignancy in childhood and adolescence. METHODS: Laboratory findings represent low level of immunoglobulins, B and T lymphocytes, increased...

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Identifiers

PMID: 21560448

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NBN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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[Heterozygous carriers of Slavic mutation 657del5 of NBN gene in patients with colorectal cancer].PMID 21560448Read ↗

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

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

[Nijmegen breakage syndrome in Slovakia].Semantic proximity Read ↗

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

The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation.Semantic proximity Read ↗

Germline 657del5 mutation in the NBS1 gene in breast cancer patients.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 ↗

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.Semantic proximity Read ↗

NBN 657del5 heterozygous mutations and colorectal cancer risk in the Czech Republic.Semantic proximity Read ↗

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