{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T23:49:20Z","timestamp":1773272960274,"version":"3.50.1"},"reference-count":44,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,5,15]],"date-time":"2003-05-15T00:00:00Z","timestamp":1052956800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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, <jats:italic>NBS1<\/jats:italic>, was recently cloned from its location on chromosome 8q21. The encoded protein, nibrin (p95), together with hMre11 and hRad50, is involved in the double\u2010strand DNA break repair system. We screened two Russian cohorts for the 657del5 <jats:italic>NBS1<\/jats:italic> 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\u2010Hodgkin 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 <jats:italic>NBS1<\/jats:italic> mutation carriers can be predisposed to malignant disorders. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20188","type":"journal-article","created":{"date-parts":[[2003,6,24]],"date-time":"2003-06-24T10:15:25Z","timestamp":1056449725000},"page":"174-179","source":"Crossref","is-referenced-by-count":27,"title":["657del5 mutation in the gene for Nijmegen breakage syndrome (<i>NBS1<\/i>) in a cohort of Russian children with lymphoid tissue malignancies and controls"],"prefix":"10.1002","volume":"120A","author":[{"given":"Igor 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