Génome Québec is pleased to highlight the unprecedented advances of Prof. Jacques Simard’s work, co-author of two important studies on the risk of developing breast cancer.


Thanks to this work, a simple saliva test could help to gauge, with unprecedented accuracy, a woman’s risk of developing breast cancer during her lifetime, according to an international study published today. By combining a person’s genetic profile obtained through a saliva sample with a statistical model that takes into account family history, hormonal factors and lifestyle habits, the researchers were able to estimate each woman’s overall risk for breast cancer, paving the way for personalized screening protocols for the disease.

“Many hundreds of researchers around the world pooled the DNA samples they had collected through their respective projects and conducted genomic analyses on 94,000 women who had had breast cancer and another 75,000 women who were part of a control group,” explains one of the study’s leaders, Jacques Simard, Canada Research Chair in Oncogenetics at Université Laval and researcher at the Genomics Center of the CHU de Québec-Université Laval Research Center. Through sophisticated statistical analyses, we developed a breast cancer risk score that includes 313 genetic variants and then validated it on nearly 220,000 women.”


Read the press release
Read the article in Genetics in Medicine
Read the article in The American Journal of Human Genetics