Jacques Simard

Jacques Simard is a full professor in the Department of Molecular Medicine at the Faculty of Medicine of Université Laval, and has been a researcher since 1990 at the Centre de recherche du CHU de Québec-Université Laval. From 2001 to 2022, he held the Canada Research Chair in Oncogenetics. He is currently vice-dean for research and innovation at the Faculty of Medicine at Université Laval.

His work focuses on the genetic susceptibility of hormone-dependent cancers, particularly breast and ovarian cancer. In this regard, he played a leading role in the discovery of the breast, ovarian, prostate and pancreatic cancer susceptibility gene BRCA2, as well as in the characterization of BRCA1 gene mutations, particularly in Canadian families. His findings provided crucial insights into the mechanisms underlying the development of breast cancer. They also made it possible to improve the accuracy of cancer risk prediction models.

Since 2001, he has led one of the largest international and interdisciplinary teams on genetic susceptibility to breast cancer. It is in this context that he used his expertise combining human genetics and epidemiology with the evaluation of psychosocial and ethical issues in order to consolidate the numerous translational research projects in precision medicine. His activities at the heart of the largest international consortia, notably the Breast Cancer Association Consortium (BCAC) and the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA), have contributed substantially to the elucidation of the different components of genetic susceptibility to breast cancer. These discoveries have made it possible to improve the accuracy of cancer risk prediction models, facilitating the identification of women who can benefit the most from detection allowing earlier surveillance, the use of less invasive therapies, thus reducing side effects, improving survival and quality of life.

Professor Simard currently leads the large-scale PERSPECTIVE: Integration & Implementation (PERSPECTIVE I&I) project which uses innovative risk stratification tools to support the implementation of a personalized approach to breast cancer screening. This paradigm shift in public health will, for example, make it possible to better serve younger women who are at high risk of the disease and who currently escape the standard screening program which mainly uses age as an eligibility criterion. This approach will also make it possible to adapt the frequency and methods of screening. This project benefits from collaborations with the Direction de la cancérologie du MSSS du Québec, and Ontario Health/Cancer Care Ontario.

As part of PERSPECTIVE I&I, Professor Simard recently led a major whole exome sequencing study, containing data from approximately 26,300 cases of breast cancer and 217,600 unaffected women. This analysis identified new associations between several genes and breast cancer risk. He is currently carrying out a replication study of these genes in nearly 100,000 samples in order to confirm their role in the risk of the disease. In addition, Professor Simard studies the functional impact of genetic variants identified in confirmed breast cancer susceptibility genes in order to determine their role on the development of the disease. The identification and validation of new breast cancer susceptibility genes, as well as the characterization of the impact of variants identified in these genes, will contribute to the improvement of gene panel tests for this disease.