In this Breast Cancer Awareness Month, Génome Québec wishes to highlight the important discoveries made in this field by Professor Jacques Simard.  Professor Simard has held the Canada Research Chair in Oncogenetics since 2001 and is a professor in the Department of Molecular Medicine at Université Laval. He is also Deputy Director of Basic Research and Head of the Genomics Centre at the CHU de Québec Research Centre-Université Laval.

An estimated 27,900 Canadians are diagnosed with breast cancer every year, and thousands more are affected by the disease. In Québec, one in eight women will develop breast cancer during her lifetime. Currently, the breast cancer screening program is essentially age-based, targeting women between the ages of 50 and 69, as well as younger women with a family history of breast cancer. However, this traditional approach means that, despite all precautions, many women at high risk of developing the disease miss out on preventive screening.

At Université Laval, Professor Jacques Simard is one of an international group of eminent researchers who, in the mid-1990s, discovered the role of the BRCA1, BRCA2 and PALB2 genes in breast cancer. Today, women who are carriers of these genes can benefit from earlier follow-up to detect the early onset of cancer.

Recently published in the journal Nature, the latest work by Professor Simard and colleagues has identified at least four new genes also associated with the risk of developing breast cancer. They have also demonstrated evidence of association with several other genes.

“This study identified at least four new genes associated with breast cancer risk, and also demonstrated evidence of association for several other genes. The identification of these new genes will contribute to our understanding of genetic risk for breast cancer. This new knowledge will improve risk prediction by better identifying women at higher risk of the disease. As a result, approaches to breast cancer screening, risk reduction and clinical management will be more judicious.” (Salle de presse, Université Laval, 2023)

To find out more, consult the following source: nouveaux gènes de susceptibilité au cancer du sein (; and the article published in Nature in September 2023:  Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.