Article
The breast cancer susceptibility allele CHEK2*1100delC promotes genomic instability in a knock-in mouse model.
Mutation research - 1 Mar 2007
Bahassi El Mustapha, Penner C Gail, Robbins Susan B, Tichy Elisia, Feliciano Estrella, Yin Moying, Liang Li, Deng Li, Tischfield Jay A, Stambrook Peter J
Abstract excerpt
Allelic variants of CHEK2 contribute to an elevated risk for human breast cancer and possibly other cancer types. In particular, the CHEK2*1100delC polymorphic variant has been identified as a low-penetrance breast cancer susceptibility allele in breast cancer families with wild type BRCA1 and BRCA2. To better understand the molecular basis by which this allele increases risk for disease, we have generated a...
Topics
- Alleles
- Animals
- Cell Cycle
- Cells, Cultured
- Checkpoint Kinase 2
- DNA Damage
- Female
- Genetic Predisposition to Disease
- Genomic Instability
- Homozygote
- Mammary Neoplasms, Experimental
- Mice
- Mice, Transgenic