657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls.
作者： Igor B. Resnick , Irina Kondratenko , Eugeni Pashanov , Alexey A. Maschan , Alexander Karachunsky
DOI: 10.1002/AJMG.A.20188
关键词: Nijmegen breakage syndrome 、 Cancer 、 Nibrin 、 Lymphoproliferative disorders 、 Microcephaly 、 Lymphoma 、 Chromosome breakage 、 Immunology 、 Breast cancer 、 Biology
摘要: 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. encoded protein, nibrin (p95), together with hMre11 hRad50, involved the double-strand DNA break repair system. We screened two Russian cohorts for 657del5 NBS1 mutation found no carriers 548 controls 68 patients malignancies: one acute lymphoblastic leukemia (ALL) non-Hodgkin lymphoma (NHL). Several relatives second patient, who were same mutation, had cancer (ALL, breast cancer, GI cancers). These preliminary data suggest that can be predisposed to malignant disorders.
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