Let’s Talk About Risk: Personalizing Breast Cancer Risk Prediction
Improved genetic profiling and risk communication are enabling targeted breast-cancer prediction, detection and treatment for those who need it most
AT A GLANCE
Who: Dr. Jacques Simard, research centre of the Centre hospitalier universitaire de Québec and Laval University
Issue: In Canada, one out of nine women will develop breast cancer during her lifetime. At present, predictive genetic testing exists only for mutations in the BRCA1 and BRCA2 genes, which account for just 5% of all breast cancers.
Projects: Dr. Simard leads the CIHR Team in Familial Risks of Breast Cancer, which includes more than two dozen Canadian and international researchers. The team, which is part of the international Collaborative Oncological Gene-environment Study (COGS), is developing a personalized risk stratification system to identify women who will most benefit from earlier screening, detection and targeted treatment of breast cancer. The team has also evaluated different strategies for sharing risk information with patients.
Research Evidence: In March 2013, COGS released the largest-ever genetic association study in cancer. The study, involving more than 100,000 women worldwide, identified 49 new genetic markers, or genetic “spelling mistakes,” related to breast cancer. In addition, the CIHR team has found that the risk communication format most commonly used by clinicians is the least preferred and understood by breast cancer patients.
Evidence in Action: The CIHR team’s risk communication research has contributed to making BOADICEA, the world’s primary risk prediction model, more patient-friendly through the incorporation of a risk curve graphic to its online risk communication package. The COGS study, meanwhile, provides the CIHR team with genetic information for the development of a new, broad-based genetic profile screening test for breast cancer, one that will enable improved personalized breast cancer screening.
Sources: Michailidou, Kyriaki, et al. “Large-scale genotyping identifies 41 new loci associated with breast cancer risk,”Nature Genetics 45, 4 (2013): 353–61. Dorval, Michel, et al. “A focus group study on breast cancer risk presentation: one format does not fit all,” European Journal of Human Genetics 21, 7 (2013): 719–24.