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New mutations and protein variants of NBS1 are identified in cancer cell lines.

Genes, chromosomes & cancer - 1 Feb 2003

Tessitore Alessandra, Biordi Leda, Flati Vincenzo, Toniato Elena, Marchetti Paolo, Ricevuto Enrico, Ficorella Corrado, Scotto Luigi, Giannini Giuseppe, Frati Luigi, Masciocchi Carlo, Tombolini Vincenzo, Gulino Alberto, Martinotti Stefano

Abstract excerpt

Alterations of the NBS1 gene are responsible for Nijmegen breakage syndrome (NBS), which is characterized by chromosomal instability, radiosensitivity, and cancer predisposition. NBS1 protein (Nibrin) is part of a molecular complex (NBS1- MRE11A-RAD50) that is functionally involved in DNA double-strand-break repair. Defects in recombination or in repair mechanisms at the level of DNA breakage can lead to...

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Identifiers

PMID: 12508248
DOI: 10.1002/gcc.10145

Genes

RAD50

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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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New mutations and protein variants of NBS1 are identified in cancer cell lines.PMID 12508248Read ↗

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Nijmegen breakage syndrome.Semantic proximity Read ↗

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.Semantic proximity Read ↗

An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele.Semantic proximity Read ↗

Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage SyndromeSemantic proximity Read ↗

Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2 French Canadian families with high risk of breast cancer.Semantic proximity Read ↗

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