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Article

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

European journal of cancer (Oxford, England : 1990) - 1 Mar 2008

Nowak Jerzy, Mosor Maria, Ziółkowska Iwona, Wierzbicka Malgorzta, Pernak-Schwarz Monika, Przyborska Marta, Roznowski Krzysztof, Pławski Andrzej, Słomski Ryszard, Januszkiewicz Danuta

Abstract excerpt

Homozygous mutation 657del5 within the NBS1 gene is responsible for the majority of Nijmegen breakage syndrome (NBS) cases. NBS patients are characterised by increased susceptibility to malignancies mainly of lymphoid origin. Recently it has been postulated that heterozygous carriers of 657del5 N...

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PMID: 18280732
DOI: 10.1016/j.ejca.2008.01.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18280732-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Heterozygous carriers of the I171V mutation of the NBS1 gene have a significantly increased risk of solid malignant tumours.PMID 18280732Read ↗

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