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

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

Research output: Contribution to journalArticlepeer-review


Alterations of the NBSI gene are responsible for Nijmegen breakage syndrome (NBS), which is characterized by chromosomal instability, radiosensitivity, and cancer predisposition. NBSI protein (Nibrin) is part of a molecular complex (NBSI - MREIIA - 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 chromosomal aberrations, genetic instability, as well as cancer predisposition syndromes (i.e., NBS, ataxia-telangiectasia, Bloom syndrome). In this study, we examined 20 cancer cell lines to evaluate the potential involvement of NBSI in tumoral pathogenesis. Three different mutations, generating truncated or aberrant NBSI transcripts, were identified at the level of NBSI mRNA. In addition, two shorter NBSI protein variants were detected in two cell lines. These data suggest a possible involvement of NBSI in tumor development.

Original languageEnglish
Pages (from-to)198-204
Number of pages7
JournalGenes Chromosomes and Cancer
Issue number2
Publication statusPublished - Feb 1 2003

ASJC Scopus subject areas

  • Cancer Research
  • Genetics


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