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Article

[Increased risk of malignancies in heterozygotes in families of patients with Nijmegen breakage syndrome].

Casopis lekaru ceskych - 1 Jan 2006

Seemanová E, Jarolím P, Seeman P, Varon R, Sperling K

Abstract excerpt

BACKGROUND: The autosomal recessive chromosomal instability and hyperradiosensitivity Nijmegen breakage syndrome (NBS) in consequence of a mutation in the NBSI gene at 8q21 is associated with high occurrence of lymphoreticular malignancies due to deficient DNA reparation (double strand breaks). In the Slavic population the majority of patients are homozygotes of the so-called "Slavic mutation" 657de15 in exon 6....

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PMID: 16521404

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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