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Article

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

Cancer reports (Hoboken, N.J.) - 1 Feb 2023

Chrzanowska Krystyna H, Seemanova Eva, Varon Raymonda, Digweed Martin, Piekutowska-Abramczuk Dorota, Sperling Karl, Seeman Pavel

Abstract excerpt

BACKGROUND: Nijmegen breakage syndrome (NBS) is an autosomal-recessive chromosome instability disorder characterized by, among others, hypersensitivity to X-irradiation and an exceptionally high risk for lymphoid malignancy. The vast majority of NBS patients is homozygous for a common Slavic founder mutation, c.657del5, of the NBN gene, which is involved in the repair of DNA double-strand breaks (DSBs). The...

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Identifiers

PMID: 36806726
DOI: 10.1002/cnr2.1700
PMCID: PMC9939984

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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