Characterization of Putative Proto-Oncogenes and Tumor Suppressor Genes That Are Transcriptionally Deregulated in Breast Cancer
Abstract
Candidate proto-oncogenes and tumor suppressor genes were previously isolated in a gene expression study involving breast cancer. The present research focus on the characterization of genetic alterations associated with presenilin-2 (PS-2), a gene identified in the gene expression a%alysis. PS-2 has been implicated in the pathogenesis of Alzheimer's disease, but functional studies indicate that the gene plays a role in pathways commonly perturbed in cancer, hence suggesting that PS-2 may be a target for genetic alterations in tumors. PS-2 maps to a chromosomal region for which LOH/deletion in breast tumors has been reported. We found low PS-2 expression in a fraction of breast tumors. In some cases, the reduction in expression can be attributed to deletion at the PS-2 genomic locus. In addition, we identified two sequence alterations in PS-2 which resulted in amino acid substitutions. Both of the alterations were observed to affect the physiological activity of PS-2, but appear not to be contributing to the Alzheimer's phenotype. The alterations may indeed contribute to mammary tumorigenesis and we are in the process of further exploring this possibility.
Document Details
- Document Type
- Technical Report
- Publication Date
- Jul 01, 2000
- Accession Number
- ADA389340
Entities
People
- Minh To
Organizations
- Mount Sinai Hospital, Toronto