Journal
INTERNATIONAL JOURNAL OF CANCER
Volume 114, Issue 4, Pages 585-589Publisher
WILEY
DOI: 10.1002/ijc.20765
Keywords
NBS1 gene; germline mutation; founder mutation; breast cancer; predisposition
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The gene for Nijmegen chromosomal breakage syndrome (NBS1) plays a role in a variety of processes protecting chromosomal stability. Recently, it was suggested in a Polish case-control study that the founder hypornorphic mutation in NBS1, 657del5, which occurs in approximately 0.5% of Slavic subjects, may be associated with an increased risk of breast cancer (BC). We attempted to validate these findings in Russian subjects, who are also of Slavic descent. Heterozygous carriers for the 657del5 mutation were detected in 2 of 173 (1.16%) bilateral breast cancer cases, 5 of 700 (0.71 %) unilateral breast cancer patients, 2 of 348 (0.57 %) healthy middle-aged females and in 0 of 344 elderly tumor-free women. The difference between the extreme cohorts, i.e., biBC patients vs. elderly controls, approached the formal limit of statistic significance (p = 0.046). LOH at NBS1 was detected in only 3 of 5 available breast tumors from NBS1 657del5-carriers. In 2 of these tumors, the loss involved the mutant NBS1-allele. Overall, our data suggest that the NBS1 657de15 allele may contribute only to a limited fraction of breast cancer cases in Russia. (C) 2004 Wiley-Liss, Inc.
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