Jacques Simard is full Professor in the Department of Molecular Medicine at Université Laval’s Faculty of Medicine, and has been a researcher at the Centre de recherche du Centre Hospitalier Universitaire (CHU) – Université Laval since 1990. From 2001 to 2022, he held the Canada Research Chair in Oncogenetics. He is currently Vice-Dean of Research and Innovation at Université Laval’s Faculty of Medicine.


Research interests and outcomes :

He is the author of more than 520 publications, review articles and book chapters.

His research focuses on the genetic susceptibility of hormone-dependent cancers, including breast, ovarian and prostate cancer.

In this respect, he played a leading role in the discovery of the breast, ovarian, prostate and pancreatic cancer predisposition gene BRCA2, as well as in the characterization of BRCA1 gene mutations, particularly in Canadian families in the mid-90s. 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, named Breast Cancer Foundation entitled Personalized Risk Stratification for Prevention and Early Detection of Breast Cancer (PERSPECTIVE).

This project brought 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.


Ongoing projects :

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.

2705, boulevard Laurier
Québec, Québec
Canada G1V 4G2
540 entries « 1 of 54 »

Walker MJ, Blackmore KM, Chang A, Lambert-Côté L, Turgeon A, Antoniou AC, Bell KA, Broeders MJM, Brooks JD, Carver T, Chiquette J, Després P, Easton DF, Eisen A, Eloy L, Evans DG, Fienberg S, Joly Y, Kim RH, Kim SJ, Knoppers BM, Lofters AK, Nabi H, Paquette JS, Pashayan N, Sheppard AJ, Stockley TL, Dorval M, Simard J, Chiarelli AM

Implementing Multifactorial Risk Assessment with Polygenic Risk Scores for Personalized Breast Cancer Screening in the Population Setting: Challenges and Opportunities

Journal Article

Cancers (Basel), 16 (11), 2024.

Abstract | Links:

Moreno PG, Knoppers T, Zawati MH, Lang M, Knoppers BM, Wolfson M, Nabi H, Dorval M, Simard J, Joly Y

Regulating cancer risk prediction: legal considerations and stakeholder perspectives on the Canadian context

Journal Article

Hum Genet, 142 (7), 2023.

Abstract | Links:

Roucher-Boulez F, Morel Y, Ladjouze A, Plotton I, Simard J, Coll M

3β-Hydroxysteroid dehydrogenase deficiency

Book Chapter

Genetic Steroid Disorders (Second Edition), pp. 81-94, 2023, ISBN: 9780128214244.

Abstract | Links:

van Barele M, Akdeniz D, Heemskerk-Gerritsen BAM, , Andrieu N, Noguès C, , van Asperen CJ, Wevers M, Ausems MGEM, de Bock GH, Dommering CJ, Gómez-García EB, van Leeuwen FE, Mooij TM, , Easton DF, Antoniou AC, Evans DG, Izatt L, Tischkowitz M, Frost D, Brewer C, Olah E, Simard J, Singer CF, Thomassen M, Kast K, Rhiem K, Engel C, de la Hoya M, Foretová L, Jakubowska A, Jager A, Sattler MGA, Schmidt MK, Hooning MJ

Contralateral breast cancer risk in patients with breast cancer and a germline-BRCA1/2 pathogenic variant undergoing radiation

Journal Article

J Natl Cancer Inst, 115 (11), 2023.

Abstract | Links:

Kast K, John EM, Hopper JL, Andrieu N, Noguès C, Mouret-Fourme E, Lasset C, Fricker JP, Berthet P, Mari V, Salle L, Schmidt MK, Ausems MGEM, Garcia EBG, van de Beek I, Wevers MR, Evans DG, Tischkowitz M, Lalloo F, Cook J, Izatt L, Tripathi V, Snape K, Musgrave H, Sharif S, Murray J, , Colonna SV, Andrulis IL, Daly MB, Southey MC, de la Hoya M, Osorio A, Foretova L, Berkova D, Gerdes AM, Olah E, Jakubowska A, Singer CF, Tan Y, Augustinsson A, Rantala J, Simard J, Schmutzler RK, Milne RL, Phillips KA, Terry MB, Goldgar D, van Leeuwen FE, Mooij TM, Antoniou AC, Easton DF, Rookus MA, Engel C

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 Article

Breast Cancer Res, 25 (1), 2023.

Abstract | Links:

Hu C, Nagaraj AB, Shimelis H, Montalban G, Lee KY, Huang H, Lumby CA, Na J, Susswein LR, Roberts ME, Marshall ML, Hiraki S, LaDuca H, Chao E, Yussuf A, Pesaran T, Neuhausen SL, Haiman CA, Kraft P, Lindstrom S, Palmer JR, Teras LR, Vachon CM, Yao S, Ong I, Nathanson KL, Weitzel JN, Boddicker N, Gnanaolivu R, Polley EC, Mer G, Cui G, Karam R, Richardson ME, Domchek SM, Yadav S, Hruska KS, Dolinsky J, Weroha SJ, Hart SN, Simard J, Masson JY, Pang YP, Couch FJ

Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C

Journal Article

Cancer Res, 83 (15), 2023.

Abstract | Links:

Mueller SH, Lai AG, Valkovskaya M, Michailidou K, Bolla MK, Wang Q, Dennis J, Lush M, Abu-Ful Z, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baert T, Freeman LEB, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Brenner H, Brucker SY, Buys SS, Castelao JE, Chan TL, Chang-Claude J, Chanock SJ, Choi JY, Chung WK, , Colonna SV, , Cornelissen S, Couch FJ, Czene K, Daly MB, Devilee P, Dörk T, Dossus L, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Engel C, Evans DG, Fasching PA, Fletcher O, Flyger H, Gago-Dominguez M, Gao YT, García-Closas M, García-Sáenz JA, Genkinger J, Gentry-Maharaj A, Grassmann F, Guénel P, Gündert M, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Harkness EF, Harrington PA, Hartikainen JM, Hartman M, Hein A, Ho WK, Hooning MJ, Hoppe R, Hopper JL, Houlston RS, Howell A, Hunter DJ, Huo D, , Ito H, Iwasaki M, Jakubowska A, Janni W, John EM, Jones ME, Jung A, Kaaks R, Kang D, Khusnutdinova EK, Kim SW, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Kubelka-Sabit K, Kurian AW, Kwong A, Lacey JV, Lambrechts D, Le Marchand L, Li J, Linet M, Lo WY, Long J, Lophatananon A, Mannermaa A, Manoochehri M, Margolin S, Matsuo K, Mavroudis D, Menon U, Muir K, Murphy RA, Nevanlinna H, Newman WG, Niederacher D, O'Brien KM, Obi N, Offit K, Olopade OI, Olshan AF, Olsson H, Park SK, Patel AV, Patel A, Perou CM, Peto J, Pharoah PDP, Plaseska-Karanfilska D, Presneau N, Rack B, Radice P, Ramachandran D, Rashid MU, Rennert G, Romero A, Ruddy KJ, Ruebner M, Saloustros E, Sandler DP, Sawyer EJ, Schmidt MK, Schmutzler RK, Schneider MO, Scott C, Shah M, Sharma P, Shen CY, Shu XO, Simard J, Surowy H, Tamimi RM, Tapper WJ, Taylor JA, Teo SH, Teras LR, Toland AE, Tollenaar RAEM, Torres D, Torres-Mejía G, Troester MA, Truong T, Vachon CM, Vijai J, Weinberg CR, Wendt C, Winqvist R, Wolk A, Wu AH, Yamaji T, Yang XR, Yu JC, Zheng W, Ziogas A, Ziv E, Dunning AM, Easton DF, Hemingway H, Hamann U, Kuchenbaecker KB

Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

Journal Article

Genome Med, 15 (1), 2023.

Abstract | Links:

Mavaddat N, Ficorella L, Carver T, Lee A, Cunningham AP, Lush M, Dennis J, Tischkowitz M, Downes K, Hu D, Hahnen E, Schmutzler RK, Stockley TL, Downs GS, Zhang T, Chiarelli AM, Bojesen SE, Liu C, Chung WK, Pardo M, Feliubadaló L, Balmaña J, Simard J, Antoniou AC, Easton DF

Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model

Journal Article

Cancer Epidemiol Biomarkers Prev, 32 (3), 2023.

Abstract | Links:

Attieh S, Monarque M, Durand A, Ahmed S, Knoppers BM, Simard J, Loiselle CG

Perceptions and Usability of PREVENTION: A Breast Cancer Risk Assessment e-Platform

Journal Article

J Pers Med, 13 (5), 2023.

Abstract | Links:

O'Mahony DG, Ramus SJ, Southey MC, Meagher NS, Hadjisavvas A, John EM, Hamann U, Imyanitov EN, Andrulis IL, Sharma P, Daly MB, Hake CR, Weitzel JN, Jakubowska A, Godwin AK, Arason A, Bane A, Simard J, Soucy P, Caligo MA, Mai PL, Claes KBM, Teixeira MR, Chung WK, Lazaro C, Hulick PJ, Toland AE, Pedersen IS, , Neuhausen SL, Vega A, de la Hoya M, Nevanlinna H, Dhawan M, Zampiga V, Danesi R, Varesco L, Gismondi V, Vellone VG, James PA, Janavicius R, Nikitina-Zake L, Nielsen FC, van Overeem Hansen T, Pejovic T, Borg A, Rantala J, Offit K, Montagna M, Nathanson KL, Domchek SM, Osorio A, García MJ, Karlan BY, , De Fazio A, Bowtell D, , McGuffog L, Leslie G, Parsons MT, Dörk T, Speith LM, Dos Santos ES, da Costa AABA, Radice P, Peterlongo P, Papi L, Engel C, Hahnen E, Schmutzler RK, Wappenschmidt B, Easton DF, Tischkowitz M, Singer CF, Tan YY, Whittemore AS, Sieh W, Brenton JD, Yannoukakos D, Fostira F, Konstantopoulou I, Soukupova J, Vocka M, , Chenevix-Trench G, Pharoah PDP, Antoniou AC, Goldgar DE, Spurdle AB, Michailidou K, ,

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

Journal Article

Br J Cancer, 128 (12), 2023.

Abstract | Links:

540 entries « 1 of 54 »
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Active projects

  • Caractérisation de nouveaux gènes de susceptibilité au cancer du sein, from 2024-02-15 to 2027-04-01
  • Characterization of novel breast cancer susceptibility genes through large-scale targeted sequencing and functional assays., from 2024-04-01 to 2029-03-31
  • Grand Prix Scientifique 2024 de la Fondation du cancer du sein du Québec, from 2024-03-31 to 2025-03-31
  • O. Harold Warwick Prize, from 2024-06-15 to 2025-03-31
  • Observatoire international sur les impacts sociétaux de l'intelligence artificielle et du numérique, from 2018-04-01 to 2025-03-31
  • Personalized Risk Assesment for Prevention and Early Detection of Breast Cancer : Integration and Implementation (PERSPECTIVE II), from 2017-11-01 to 2025-09-30

Recently finished projects

  • Journées de la recherche de la Faculté de médecine et des centres de recherche, from 2023-04-17 to 2024-04-30
  • 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
  • The contribution of RAD51C and RAD51D to breast and ovarian cancer, from 2021-05-01 to 2023-04-30
Data provided by the Université Laval research projects registery