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 compared women with high familial risk to those with lower risk. We are studying identical twins with differing genetic risks (i.e. concordant for breast cancer pairs vs. discordant pairs) as well as unaffected controls and are comparing the frequency of polymorphisms in selected genes related to estrogen and carcinogen metabolism in each of these groups. In the estrogen metabolism pathway, polymorphisms related to the CYPl7, CYPl9, COMT, and HSDI7B 1 genes are being studied as are polymorphisms in the GSTMl, Pi and CYPlAl genes in the carcinogen metabolism pathway. The final sample size will include 200 women in each group. We have developed the protocols and procedures for the study and currently have tissue from 111 concordant and 148 discordant pairs and buccal smears from 3 control women. Informed consents (specifically for this study) have been obtained from 26 concordant, 54 discordant, and 3 control women. Laboratory analyses of the CYPl7 gene are underway.
Document Details
- Document Type
- Technical Report
- Publication Date
- Jul 01, 2001
- Accession Number
- ADA396387
Entities
People
- Ann S Hamilton
Organizations
- University of Southern California