Structural Rearrangements in DNA Repair Genes in Breast Cancer
Abstract
The genetic basis of cancer has been firmly established in the last few decades. Genomic instability is a hallmark feature of virtually all breast cancer cells, and is caused either by inherited mutations in genes that control genomic fidelity and stability (particularly in DNA repair pathways), or somatic mutations that are acquired during breast cancer progression. We hypothesized that structural genomic alterations in the genes that are actually themselves involved in DNA repair enhance the level of genomic instability and ultimately affect breast cancer progression and prognosis. We cloned a fusion gene of RAD51C:ATXN7 which exists in two spice isoforms. We found the same fusion in two other breast cancer cell lines and a prostate cancer cell line. We have transfected MCF10A and MCF-7 cells with a GFP reporter of DNA repair activity and are testing the effect of this mutation on DNA repair. We are also using COMET assays. We have also identified multiple truncations of the EYA family. We are expanding these studies and understanding the biological relevance of the findings.
Document Details
- Document Type
- Technical Report
- Publication Date
- Oct 01, 2011
- Accession Number
- ADA560842
Entities
People
- Adrian V Lee
Organizations
- University of Pittsburgh