Germline mutations 657del5 and 643C>T (R215W) in NBN are not likely to be associated with increased risk of breast cancer in Czech women
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The NBN (formerly NBS1) gene (OMIM*602667) is located on chromosome 8q21 and encodes a 754-amino acid protein known as nibrin. Nibrin is a component of the MRE11/RAD50/NBN (MRN) complex and is involved in the DNA double-strand break repair, telomere maintenance, and cell-cycle checkpoint control. Individuals homozygous for deleterious mutations in NBN develop an autosomal recessive disorder, Nijmegen breakage syndrome (NBS; #251260), characterized by microcephaly, growth retardation, immunodeficiency, hypersensitivity to X-irradiation, and increased risk of lymphoid malignancies . About 90 % of NBS patients carry the homozygous mutation 657del5 (c.657_661delACAAA) affecting exon 6 of the NBN gene that has been predominantly identified in Slavic populations [2, 3]. Another potentially deleterious NBNalteration, the missense substitution c.643C>T (p.R215W), is also located in exon 6 and has been described in two severely affected NBS siblings who were compound...
KeywordsBreast Cancer Breast Cancer Patient High Resolution Melting Male Breast Cancer Nijmegen Breakage Syndrome
We would like to thank Stanislav Kormunda for the statistical analyses and Marie Epsteinova for her excellent technical assistance. The project was supported by the Internal Grant Agency of the Ministry of Health of the Czech Republic, Grant No. NS 10304-3/2009.
Conflict of interest
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