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CHEK2 1100delC mutation is frequent among Russian breast cancer patients

✍ Scribed by 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


Book ID
106377125
Publisher
Springer US
Year
2006
Tongue
English
Weight
176 KB
Volume
100
Category
Article
ISSN
0167-6806

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Correlation of CHEK2 protein expression
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The CHEK2 kinase is a tumor suppressor whose activation in response to DNA double-strand breaks contributes to cell cycle arrest or apoptosis. The c.1100delC mutation is associated with familial breast cancer, and tumors from mutation carriers show reduced or absent CHEK2 protein expression. We have

CHEK2 1100delC is not a risk factor for
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## Abstract Genetic risk factors for male breast cancer (MBC) are poorly understood. High penetrance genes such as BRCA1 or BRCA2 account for only a small proportion of the disease. A 1100delC mutation in CHEK2 (previously known as CHK2), a cell‐cycle checkpoint kinase, has been implicated in predi