CONFLUENCE: uncovering breast cancer genetics

Genome wide association studies (GWAS) have been successful in identifying over 180 common susceptibility loci for breast cancer. However, heritability analyses indicate that breast cancer is a highly polygenic disease with thousands of common genetic variants of small effects, and that increasing sample sizes will generate new discoveries. The Confluence project funding by NIH and leading by BCAC (Breast Cancer Association Consortium) aims to build a large research resource of over 300,000 cases and 300,000 controls of different ancestries—doubling current sample sizes to study the genetic architecture of breast cancer. This will be accomplished by the confluence of existing and new genome-wide genotyping data to be generated through this project. This large increase in sample size and diversity of populations will enable discoveries that will lead to a better understanding of the etiology of distinct breast cancer subtypes and the role of genetic variation in prognosis and treatment response, thus improving risk stratification, prevention, and clinical care of breast cancer across ancestry groups