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CHEK2 1100delC mutation is frequent among Russian breast cancer patients |
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| Authors: | Elena V. Chekmariova Anna P. Sokolenko Konstantin G. Buslov Aglaya G. Iyevleva Yulia M. Ulibina Maxim E. Rozanov Natalia V. Mitiushkina Alexandr V. Togo Dmitry E. Matsko Dmitry A. Voskresenskiy Oleg L. Chagunava Peter Devilee Cees Cornelisse Vladimir F. Semiglazov Evgeny N. Imyanitov |
| Affiliation: | (1) N.N. Petrov Institute of Oncology, St.-Petersburg, Russia;(2) Center of Mammology, St.-Petersburg, Russia;(3) Leiden University Medical Center, Leiden, The Netherlands;(4) N.N. Petrov Institute of Oncology, Pesochny-2, 197758 St.-Petersburg, Russia |
| Abstract: | This study was aimed to assess the role of CHEK2 1100delC mutation in breast cancer (BC) predisposition in Russia. The 1100delC allele was detected in 14/660 (2.1%) unilateral BC cases and in 8/155 (5.2%) patients with the bilateral form of the disease, but only in 1/448 (0.2%) middle-aged control females and in none of 373 elderly tumor-free women. The obtained data point at potentially high clinical relevance of CHEK2 1100delC testing in females of Russian origin and warrant similar case-control studies in ethnically and geographically related regions, especially in Ukraine, Belarus and Baltic countries. |
| Keywords: | CHEK2 1100delC Mutation Breast cancer predisposition Elderly |
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