Recombinational Repair Genes and Breast Cancer Risk
Abstract
To seek novel DNA double strand break (DSB) repair genes that may influence breast cancer risk, phenotype-based saeen for chromosome instability mutations in mice, successfully yielding four mutations. Underlying genes for two of these mutations have been identified and their effects on carcinogenesis have been investigated. chaosl (chromosome aberration occurring spontaneously 1) was the first mutation identified from this saeen. This recessive mutation was linked with a missense mutation in Polq encoding DNA polymerase 0, which is potentially involved in DNA inter-strand crosslink repair. We confirmed that chaosl is a mutant allele of Polq using two genetic approaches. Although the chaos1 allele itself does not confer higher cancer susceptibility, interestingly we observed genetic interaction between chaosl and Atm (ataxia telangiectasia mutated), which has a central role in regulating DSB repair by homologous recombination, and presumably influences breast cancer susceptibility.
Document Details
- Document Type
- Technical Report
- Publication Date
- Jul 01, 2004
- Accession Number
- ADA428433
Entities
People
- Naoko Shima