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

2017 Large-Scale Applied Research Project Competition: Genomics and Precision Health
Genome Centre(s):
Génome Québec, Ontario Genomics
Project Leader(s):
Jacques Simard (Université Laval), Anna Maria Chiarelli (Cancer Care Ontario, University of Toronto)
Project Description: 

Breast cancer is the most common cancer and second leading cause of cancer death in Canadian women. Women face one-in-eight chances of developing breast cancer in their lifetime. Current screening recommendations are that all women aged 50-74 have a mammogram every two-to-three years. Personalized risk assessment using a combination of genomic profiling and other breast cancer risk factors would allow tailored prevention and screening recommendations based on individual risk to improve the balance of benefits to harms.

This research project will provide evidence that can significantly extend the benefits of current population age-based screening programs by supporting the transition to a risk-based approach.   The evidence generated will also improve genetic counselling about screening and risk reduction strategies for women with a family history of breast cancer who are seen in cancer genetic clinics.

The research team, led by Drs. Jacques Simard of Université Laval and Anna Maria Chiarelli of Cancer Care Ontario and the University of Toronto, will study very 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, feasibility and outcomes of risk-based screening using a new, comprehensive risk-prediction web-based tool and a genomic profiling test within existing mammography centres.

Improved personalized risk assessment will enable earlier detection and treatment of breast cancer, saving lives and providing health and socio-economic benefits.