Informed Choices

informedchoices

Determining who is most at risk of breast cancer could fine-tune screening for all women

Last revised: December 2015

Every year in Canada, 5,000 women die of breast cancer, and another 23,000 individuals are newly diagnosed with the disease. Almost a quarter are women under age 50, who are currently not eligible for routine breast-cancer screening. In the near future, that could change.With $11.4 million in funding from Genome Canada and its partners, an international team of scientists led by geneticist Dr. Jacques Simard of Laval University is creating a new genetic test, and a comprehensive risk-prediction model, to identify women of all ages with an increased susceptibility to breast cancer.

These tools will allow doctors to combine genetic and non-genetic risk factors to determine how likely an individual is to develop breast cancer. Provincial governments might then conduct pilot tests to assess the public health benefits of basing screening guidelines on relative risk, rather than just age.

“By the end of this project, we will be able to identify 10 times more women at risk,” says Dr. Simard. “This represents a significant proportion who currently are not effectively screened.” The same tools would also determine which individuals have a lower-than-average risk of breast cancer, possibly leading them to extend the interval between routine breast scans.

This significant advance in personalized health is the culmination of 20 years of research by Dr. Simard and his interdisciplinary team. In 2013, an international consortium, with whom he works, identified 49 new genetic markers for breast cancer, bringing the total now known to 76. McGill University and the Génome Québec Innovation Centre (one of 10 Genomic Innovation Network Nodes across the country funded by Genome Canada) was “critical” to this major breakthrough, says Dr. Simard; it was chosen to analyze samples from 100,000 individuals around the world because of its state-of-the-art technology and expertise. Genome Canada’s major partners in the breast cancer risk stratification project are the Canadian Institutes of Health Research and Génome Québec.

“In younger women, breast cancer tends to be more aggressive. Detected early, survival rates will be better with less aggressive treatments.” — Dr. Jacques Simard, geneticist

Genome Canada funds 10 “Nodes” that together form Canada’s Genomic Innovation Network. Each Node provides researchers across Canada and internationally with access to leading-edge technologies used in genomics, metabolomics, proteomics and other related areas of research.

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