Personalized risk assessment for prevention and early detection of breast cancer: Integration and Implementation

Breast cancer is the most common cancer in women in Canada and the second-leading cause of cancer death. Women face a one-in-eight chance of developing cancer in their lifetime. Current recommendations are that all women aged 50-74 have a screening mammogram every two-to-three years. Screening instead according to risk, through a combination of genomic profiling and other breast cancer risk factors, would enhance the benefits and reduce the risks of screening.

The evidence generated by this research project will support the transition from population-based to risk-based screening. It will also improve counseling for women with a family history of breast cancer who are seen in cancer genetic clinics. This improved approach to screening will enable earlier detection and treatment of breast cancer, saving lives and bringing health and socio-economic benefits.

The research team, led by Drs. Jacques Simard of Université Laval and Anna Maria Chiarelli of the University of Toronto, will study large cohorts of women using high throughput genomic technologies, together with statistical and epidemiological methods, to develop and validate a multi-gene panel test based on genetic variations associated with breast cancer. The team will also assess the acceptability and feasibility of using a new, comprehensive risk-prediction web-based tool and a genomic profiling test within the existing mammography screening system.

The results of this project will change breast-screening practice and ensure better use of human and financial resources, while reducing the burden of breast cancer on Canadian women.

Short version

This project will support a transformation in breast-cancer screening from a population-based approach to one based on risk. The research team will develop a multi-gene test based on genetic variations associated with breast cancer, to be used within existing mammography programs to ensure earlier detection and treatment of breast cancer and more efficient use of human and financial resources.

Lead Genome Centre: Génome Québec

Co-lead Genome Centre: Ontario Genomics

Co-project leader and User:

Co-applicants, Users and Collaborators: