657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls

Igor B. Resnick, Irina Kondratenko, Eugeni Pashanov, Alexey A. Maschan, Alexander Karachunsky, Oleg Togoev, Andrey Timakov, Alexander Polyakov, Svetlana Tverskaya, Oleg Evgrafov, Alexander G. Roumiantsev

Research output: Contribution to journalArticlepeer-review

35 Scopus citations

Abstract

Nijmegen breakage syndrome (NBS, OMIM 251260) is a rare hereditary disease, characterized by immune deficiency, microcephaly, and an extremely high incidence of lymphoid tissue malignancies. The gene mutated in NBS, NBS1, was recently cloned from its location on chromosome 8q21. The encoded protein, nibrin (p95), together with hMre11 and hRad50, is involved in the double-strand DNA break repair system. We screened two Russian cohorts for the 657del5 NBS1 mutation and found no carriers in 548 controls and two carriers in 68 patients with lymphoid malignancies: one with acute lymphoblastic leukemia (ALL) and one with non-Hodgkin lymphoma (NHL). Several relatives of the second patient, who were carriers of the same mutation, had cancer (ALL, breast cancer, GI cancers). These preliminary data suggest that NBS1 mutation carriers can be predisposed to malignant disorders.

Original languageEnglish (US)
Pages (from-to)174-179
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume120 A
Issue number2
DOIs
StatePublished - Jul 15 2003
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Keywords

  • NBS mutation
  • Pediatric leukemia
  • Pediatric lymphoma
  • Predisposposition to cancer

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