Gene Polymorphisms in Relation to Cancer in Black Women

During the first period of the study, cheek cell samples were obtained from ~27,000 Black Women’s Health Study (BWHS) participants by the mouthwash-swish methods.  Samples from ~900 breast cancer cases and matched controls were genotyped in fine-mapping of the loci identified as associated with breast cancer risk in genome-wide association studies of European and Asian ancestry women.   In addition, replication genotyping of the top 60 SNPs from the first GWAS in African American women was carried out.   Under continuation funding, we will genotype the top 1500 SNPs from the collaborative GWAS in BWHS breast cancer cases and controls and carry out a meta-analysis of results with results of the GWAS.  We will also carry out targeted sequencing of two loci of interest.