Breast Cancer Susceptibility Genes in High Risk Women
Abstract
A positive family history, present in about 30% of breast cancer cases, has been shown to double a woman's risk of breast cancer. The genetic factors responsible are largely unknown, although the autosomal dominant, relatively high penetrant genes BRCAl/2 may account for 3%. It has been hypothesized that susceptibility genes of lower penetrance may also affect breast cancer risk, and a likely group of such genes are those that regulate the production, intracellular transport, and metabolism of estrogen. Previous studies of these susceptibility genes have not been conducted with women with high familial risk. This study is being conducted with identical twins with differing genetic risks (i.e. concordant for breast cancer pairs vs. discordant pairs) as well as unaffected controls. We have chosen to focus on those genes related to estrogen metabolism and carcinogen metabolism. In the estrogen metabolism pathway, polymorphisms have been described related to the CYP 17 gene, the CYP 19 gene, the COMT gene, and the HSD 17B1 gene. Genes related to carcinogen metabolism which have been linked to breast cancer risk include GSTMl and Pt and CYPIAl. We will compare the frequency of selected polymorphisms in these genes in 200 breast cancer concordant, 200 discordant, and 200 control women. We currently have tissue or buccal smears and informed consents from 85 concordant, 108 discordant, and 101 control women. Preliminary laboratory analyses of the CYPl7 gene indicate that this gene is not associated with a high genetic risk. underway.
Document Details
- Document Type
- Technical Report
- Publication Date
- Jul 01, 2002
- Accession Number
- ADA408997
Entities
People
- Ann S Hamilton
Organizations
- University of Southern California