CHEK2 1100delC mutation is frequent among Russian breast cancer patients

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 f...

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Published in:Breast cancer research and treatment 2006-11, Vol.100 (1), p.99-102
Main Authors: Chekmariova, Elena V, Sokolenko, Anna P, Buslov, Konstantin G, Iyevleva, Aglaya G, Ulibina, Yulia M, Rozanov, Maxim E, Mitiushkina, Natalia V, Togo, Alexandr V, Matsko, Dmitry E, Voskresenskiy, Dmitry A, Chagunava, Oleg L, Devilee, Peter, Cornelisse, Cees, Semiglazov, Vladimir F, Imyanitov, Evgeny N
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Breast cancer
Breast Neoplasms - epidemiology
Breast Neoplasms - etiology
Breast Neoplasms - genetics
Cancer research
Case-Control Studies
Checkpoint Kinase 2
European Continental Ancestry Group - genetics
Female
Gene Frequency
Genetic Predisposition to Disease
Humans
Middle Aged
Mutation
Protein-Serine-Threonine Kinases - genetics
Russia - epidemiology
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Summary: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.
ISSN:0167-6806
1573-7217
DOI:10.1007/s10549-006-9227-7