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NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia
Author(s) -
Buslov Konstantin G.,
Iyevleva Aglaya G.,
Chekmariova Elena V.,
Suspitsin Evgeny N.,
Togo Alexandr V.,
Kuligina Ekatherina Sh.,
Sokolenko Anna P.,
Matsko Dmitry E.,
Turkevich Elena A.,
Lazareva Yulia R.,
Chagunava Oleg L.,
BitSava Elena M.,
Semiglazov Vladimir F.,
Devilee Peter,
Cornelisse Cees,
Hanson Kaido P.,
Imyanitov Evgeny N.
Publication year - 2004
Publication title -
international journal of cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.475
H-Index - 234
eISSN - 1097-0215
pISSN - 0020-7136
DOI - 10.1002/ijc.20765
Subject(s) - nijmegen breakage syndrome , breast cancer , cancer , allele , medicine , mutation , oncology , genetics , biology , gene , dna damage , dna , ataxia telangiectasia
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 hypomorphic 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 657del5 allele may contribute only to a limited fraction of breast cancer cases in Russia. © 2004 Wiley‐Liss, Inc.