Article
Contribution of mutations in ATM to breast cancer development in the Czech population.
Oncology reports - 1 Jun 2008
Soukupova Jana, Dundr Pavel, Kleibl Zdenek, Pohlreich Petr
Abstract excerpt
Mutations in the ATM gene are the cause of a rare autosomal recessive syndrome, ataxia-telangiectasia (AT). Of the general population, approximately 0.35-1% has been estimated to be heterozygous for a germline mutation in the ATM gene. The finding that ATM heterozygotes have an increased breast cancer risk was supported by some studies but not confirmed by others. In our study, the entire coding sequence of the...
Topics
- Adult
- Age of Onset
- Alternative Splicing
- Ataxia Telangiectasia Mutated Proteins
- Breast Neoplasms
- Cell Cycle Proteins
- Czechoslovakia
- DNA Methylation
- DNA Mutational Analysis
- DNA-Binding Proteins
- Female