CHEK2 1100delC mutation is frequent among Russian breast cancer patients
β 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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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
## 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 cellβcycle checkpoint kinase, has been implicated in predi