The genetic epidemiology of breast cancer: CanPath Application to the Confluence Project

Principal Investigator: Dr. Jennifer Brooks

Affiliation: Dalla Lana School of Public Health, University of Toronto

Start Year: 2021

Genome wide association studies (GWAS) have been successful in identifying over 180 common susceptibility loci (specific physical locations of a gene on a chromosome) for breast cancer. However, heritability analyses indicate that breast cancer is influenced by multiple genes with thousands of common genetic variants of small effects, and that increasing sample sizes will generate new discoveries. The Confluence project 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. CanPath will support the Confluence Study by contributing data and biosamples for genotyping for all incident and prevalent cancer cases. The inclusion of CanPath in Confluence will provide solid representation of Canadians in this international genotyping effort. This includes prominent minority populations in Canada, allowing Canadians to benefit from the findings of this ambitious project. Further, the generation of GWAS data through this effort will enhance the CanPath (and regional cohort) datasets through the genotyping of all breast cancer cases and a selection of controls.