Progression of Structural Change in the Breast Cancer Genome
Abstract
As our basic understanding of the human genome evolves, we are beginning to appreciate that it is not a static entity but rather a plastic one acquiring de novo mutations and structural changes. A number of recent studies suggest that breast cancer is initiated through disrupted DNA repair processes, leading to a destabilized genome, in turn promoting a heterogeneous primary lesion from which a/many subpopulation(s) acquire general or organ specific metastatic potential. I aim to identify and characterize the specific mutations that are acquired during breast cancer metastasis. To do this paired primary and metastatic breast cancer samples have been obtained and used for targeted and genome-wide analyses. Large insert mater-pair sequencing has been completed for 7 samples from 2 patients. Analysis is ongoing but many primary-metastasis shared and metastasis specific structural changes have been identified. Additionally, I present strong evidence that NCOR1 and a number of other genes are mutated specifically in ER+ disease and thus represent ideal targets for endocrine resistance research. Attached herein, I provide a detailed progress report for this subject.
Document Details
- Document Type
- Technical Report
- Publication Date
- Aug 01, 2013
- Accession Number
- ADA591079
Entities
People
- Ryan J. Hartmaier
Organizations
- University of Pittsburgh