Jacques Simard is currently Vice-Dean of Research and Graduate Studies at the Université Laval’s Faculty of Medicine, and since 2001, he has held a Canada Research Chair in Oncogenetics. He is Professor in the Department of Molecular Medicine at Laval University’s School of Medicine, and since 1990, has been a scientist at the Centre Hospitalier Universitaire (CHU) – Université Laval Research Center.
He is the author of more than 500 publications, review articles and book chapters. His research focuses on the genetic susceptibility of hormone-dependent cancers, including breast, ovarian and prostate cancer. Specifically, he participated in the characterization of the impact of mutations in the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2. Professor Simard’s international reach and influence can be best exemplified in his heading, since 2001, one of the largest interdisciplinary and international research teams on genetic susceptibility to breast cancer guided by open science principles. He has had a leadership role in large-scale international studies focused on deciphering the genetic architecture of breast cancer, which have provided the long-awaited vital knowledge to develop personalized risk assessment tools to improve prevention and early detection of the disease. He has been Director of the Interdisciplinary Health Research International Team on Breast Cancer Susceptibility (INHERIT BRCAs), an international interdisciplinary health research team on genetic susceptibility to breast cancer funded by the Canadian Institutes of Health Research (CIHR) 2001 -2007, which was renewed in 2008 for five years as the CIHR Team in Familial Risks of Breast Cancer (2008-2013). The establishment of this international team has allowed Professor Simard to pursue numerous collaborations allowing him to accelerate the development of his oncogenetics research activities. Indeed, his close collaborations with several international consortia, notably the Breast Cancer Consortium Consortium (BCAC) and the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA), has led to a significant increase in the validity and the impact of scientific breakthroughs to improve the identification of women at increased risk of developing breast cancer whom would benefit most from a better adapted clinical follow-up.
From 2013-2018 Professor Simard was principal investigator (Bartha M Knoppers co-lead ) of a large-scale interdisciplinary project funded by Génome Québec/Genome Canada/CIHR/Quebec Breast Cancer Foundation entitled Personalized Risk Stratification for Prevention and Early Detection of Breast Cancer (PERSPECTIVE), bringing together 27 co-researchers including fundamentalists, biostatisticians and clinicians from Quebec, Ontario, the United States, the United Kingdom, the Netherlands and Germany. This project was designed to develop the tools needed to implement a risk stratification approach that will target breast cancer screening in women most likely to develop the disease. In this context, recommendations on the starting age and frequency of mammography screening could be adapted for women’s individual risk of breast cancer. Indeed, risk stratification will better serve the subpopulation of younger women, who are at high risk of developing breast cancer, and who are currently missed by the standard age-based screening program. Since breast cancer in these young women often has a poorer prognosis, earlier detection and follow-up would improve survival rates, provide less aggressive treatment, reduce side effects, and increase their quality of life.
He currently leads (co-lead Anna M. Chiarelli / 2018-2022) a related large-scale project entitled Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I). One of the major goals of this project is the development of a framework to support implementation of a personalized risk-based approach to breast cancer screening. This study uses the risk stratification tools, already developed by his team in the context of PERSPECTIVE, to generate real-world evidence on acceptability, uptake and cost-effectiveness of risk-based screening also address socio-ethical and legal issues. Two other major components of this project are 1: the identification and validation of novel moderate to high-risk breast cancer susceptibility genes and 2: the improvement, validation, and adaptation of a risk prediction web-tool for the Canadian context.
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Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
Journal ArticleNat Genet, 55 (9), 2023.
Canadian Healthcare Professionals' Views and Attitudes toward Risk-Stratified Breast Cancer Screening
Journal ArticleJ Pers Med, 13 (7), 2023.
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
Journal ArticleJ Med Genet, 2023.
Regulating cancer risk prediction: legal considerations and stakeholder perspectives on the Canadian context
Journal ArticleHum Genet, 142 (7), 2023.
Contralateral breast cancer risk in irradiated breast cancer patients with a germline-BRCA1/2 pathogenic variant
Journal ArticleJ Natl Cancer Inst, 2023.
Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium
Journal ArticleBreast Cancer Res, 25 (1), 2023.
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C
Journal ArticleCancer Res, 83 (15), 2023.
Perceptions and Usability of PREVENTION: A Breast Cancer Risk Assessment e-Platform
Journal ArticleJ Pers Med, 13 (5), 2023.
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
Journal ArticleBr J Cancer, 128 (12), 2023.
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
Journal ArticleGenome Med, 15 (1), 2023.
Active projects
- Journées de la recherche de la Faculté de médecine et des centres de recherche, from 2023-04-17 to 2024-04-30
- Observatoire international sur les impacts sociétaux de l'intelligence artificielle et du numérique, from 2018-04-01 to 2024-03-31
- Personalized Risk Assesment for Prevention and Early Detection of Breast Cancer : Integration and Implementation (PERSPECTIVE II), from 2017-11-01 to 2024-03-31
- Quand innovations technologique et organisationnelle vont de pair: Un modèle collaboratif pour rendre l'oncogénétique plus agile, accessible et efficiente, from 2020-04-01 to 2023-10-27
Recently finished projects
- Chaire de recherche du Canada en oncogénétique, from 2015-03-01 to 2022-06-30
- From correlation to causation in genomics: identifying mechanisms underlying disease, from 2015-07-01 to 2022-06-30
- The contribution of RAD51C and RAD51D to breast and ovarian cancer, from 2021-05-01 to 2023-04-30