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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 |
| Institution: | (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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