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 relatively high penetrant genes BRCA1/2 may account for 3%. 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 included identical twins with differing genetic risks (i.e. concordant for breast cancer pairs vs. discordant pairs) as well as unaffected controls. DNA samples were obtained from 136 concordant pairs, 152 discordant pairs and 137 controls. DNA has been extracted and stored for conducting additional genetic testing using these samples. A total of 368 single nucleotide polymorphisms (SNPs) have been assayed along 16 genes using the Illumina System. The genes included AIB1, COMT, COX2, CYP17, CYP19, CYP1A1, CYP3A4, ESR1, ESR2, GPR54 ,GSTP1, IGF1, IGFBP3, P160, and PR. The SNPs selected were haplotype tagging SNPs that were selected to cover the variation across the entire length of each of the genes. Genes preliminarily showing the most indication of being involved with breast cancer susceptibility included HSD17B1, CYP1A1, GSTP1, AIB1, P160 and COX2. The project has generated a wealth of data that will require further analysis to understand the significance of these results and has created a valuable resource for additional testing of newly identified SNPs.
Document Details
- Document Type
- Technical Report
- Publication Date
- Dec 01, 2005
- Accession Number
- ADA457712
Entities
People
- Ann S Hamilton
Organizations
- University of Southern California