Characterization of Early Genomic Changes in Mammary Glands of High Risk Women
Abstract
Because many of the familial breast cancer patients carry a mutation in BRCA-1 on chromosome 17 or BRCA-2 on chromosome 13, the first genetic event that may occur in their mammary glands to begin the progression toward cancer is on one of these two chromosomes. This genetic event is termed loss of heterozygosity (LOH) . It is unknown if these genetic changes correspond to a recognizable histopathological abnormality, nor what are the precise associated chromosomal changes leading to cancer. At the Lombardi Cancer Center, we have a large ongoing study to test high-risk women for BRCA mutations and to counsel them on their prevention options. One of the options is prophylactic mastectomy, and our Histopathology and Tissue Shared Resource is maintaining a repository and database, with associated blood specimens of such material. We now propose to utilize these 'normal glands' removed for preventive purposes, as well as BRCA- positive breast cancer and associated mastectomy tissue to learn more about the precise earliest histopathologic changes and associated chromosomal changes in BRCA- carriers. From these studies we hope to learn more about the natural history of BRCA positive breast lesions and to improve their molecular diagnosis and the decision making for the patients.
Document Details
- Document Type
- Technical Report
- Publication Date
- Jul 01, 2000
- Accession Number
- ADA385938
Entities
People
- Robert P Dickson
Organizations
- Georgetown University