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Articles by Jacques Simard
Perspectives from a multi-stakeholder workshop for implementing a risk-stratified breast cancer screening program in Canada
Abstract Implementing population-wide risk-stratified breast screening (RSBS) requires coordinated planning across diverse stakeholders and adaptation within complex healthcare systems. We convened a multi-stakeholder workshop with 34 policymakers, breast screening program leaders and healthcare professionals across Canada. Participants co-envisioned an RSBS program and focused on defining care pathways, the implementation roadmap, stakeholder engagement, and workforce training.
Genetic counseling services for hereditary breast and ovarian cancer: patients’ experience and satisfaction with different service models - European Journal of Human Genetics
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Abstract In the context of limited resources and growing demand, patients access genetic testing for hereditary breast and ovarian cancer (HBOC) through various service models, some of which include genetic counseling sessions. This study assessed the impact of these service models and participation in genetic counseling on patients’ experiences and satisfaction with the genetic testing process.
By Julie Lapointe, Anne-Sophie Bergeron, Karine Bouchard, Marie-Pascale Pomey, Johanne Hébert, Philippe Lachapelle, Madeleine R. Cote, Tania Cruz-Marino, Omar Touhami, Sylvain Gagnon, Isabelle Gosselin, Marie-Eve Bélanger, Marie-Claude Roy, Josianne Leblanc, Mathias Cavaillé, Marie Plante, Martin Beaumont, Jacques Simard, Michel Dorval, Hermann Nabi, Ouerdia Haroun, Rachel Guérard, Camille Raîche, Jocelyne Chiquette, Gabrielle Olivier Chevrier, Arian Omeranovic, Lily Boily, Carmen Brisson, Jean Gekas, Arnaud Blanchet Saint-Pierre, Karine Boisvert, Claire Brousseau, Lysanne Castonguay, Marie-Claude Renaud, Maria-Gabriela Ruiz Mangas, Audrey Paquet-Beaupré, Marie-Michelle Racine, Sandra Blanchette, Valérie Faucher, Marie-Eve Dubeau, Christine Desbiens
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Nature
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Adapting the BOADICEA breast and ovarian cancer risk models for the ethnically diverse UK population - British Journal of Cancer
Abstract BOADICEA is a widely used algorithm for predicting breast and ovarian cancer risks, using a combination of genetic and lifestyle, hormonal and reproductive risk factors. However, it has largely been developed using data from White/European individuals, limiting its applicability to other ethnicities. Here, we updated BOADICEA to provide ethnicity-specific risk estimates.
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2 - British Journal of Cancer
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Abstract Background The distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity, for application using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) variant classification system.
By Susan J. Ramus, Nicola S. Meagher, Irene L. Andrulis, Jeffrey N. Weitzel, Anna Jakubowska, Andrew Godwin, Jacques Simard, Manuel R. Teixeira, Wendy Chung, Peter J Hulick, Amanda E. Toland, Inge Sokilde Pedersen, HEBON Investigators, Susan Neuhausen, Ana Francisca Vega Verified, Heli Nevanlinna, Katherine L. Nathanson, Ana Osorio, Maria Garcia, Maria García Verified, María García Gil, Beth Karlan, GEMO Study Collaborators, Anna de Fazio, AOCS Group, Goska Leslie, Thilo Dörk, Paolo Peterlongo, Douglas F. Easton, Christian F. Singer, Weiva Sieh, James Brenton, Irene Konstantopoulou, Jana Soukupová, Michal Vocka, Amanda B. Spurdle, Kyriaki Michailidou, Denise G. O’Mahony, Adalgeir Arason, CZECANCA Consortium
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Nature
Verified
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers - Communications Biology
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Study cohort Female BRCA1 and BRCA2 pathogenic variant carriers were from study centres across North America, Europe, and Australia participating in CIMBA (Supplementary Data 12), as reported previously4,5. Eligibility criteria for study participants included: (1) female carriers of BRCA1 or BRCA2 pathogenic variants; and (2) minimum 18 years of age at recruitment.
By John Pearson, Joe Dennis, Daniel Barnes Verified, Peter D. Mace, Irene L. Andrulis, Jacopo Azzollini, Marinus J. Blok, Joan Brunet, Ian Campbell, Wendy Chung, GEMO Study Collaborators, EMBRACE Collaborators, Sita Dandiker, Robin de Putter, Douglas F. Easton, Hans Ehrencrona, Lidia Feliubadaló, Simon A. Gayther, Paul Gesta, Andrew Godwin, Mark Greene, Jan Hauke, Peter J Hulick, SWE-BRCA Investigators, K ConFab Investigators, HEBON Investigators, Claudine Isaacs, Louise Izatt, Ángel Cabrera Izquierdo, Anna Jakubowska, Paul James, Vijai Joseph, Beth Karlan, Irene Konstantopoulou, Conxi Lázaro, Goska Leslie, Fabienne El-Khoury Lesueur, Austin L. Miller Verified, Sophie Nambot, Katherine L. Nathanson, Susan Neuhausen, Heli Nevanlinna, Liene Nikitina-Zake, Olufunmilayo I. Olopade, Ana Osorio, Claus-Eric Ott, Sue K Park, Michael Parsons, Inge Sokilde Pedersen, Paolo Peterlongo, Paolo Radice, Efraim H Rosenberg, Jacques Simard, Doris Steinemann, Christian Sutter, Manuel R. Teixeira, Soo Hwang Teo, Marc Tischkowitz, Amanda E. Toland, Vishakha Tripathi, Ana Francisca Vega Verified, Alessandra Viel, Jeffrey N. Weitzel, Marike R. Wevers, Amanda B. Spurdle
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Nature
Verified
Health professionals’ perspectives on breast cancer risk stratification: understanding evaluation of risk versus screening for disease
Public Health Reviews201940:2 https://doi.org/10.1186/s40985-019-0111-5 © The Author(s). 2019 Received: 10 July 2018 Accepted: 12 February 2019 Published: 28 February 2019 Abstract Background Younger women at higher-than-population-average risk for breast cancer may benefit from starting screening earlier than presently recommended by the guidelines.
Genetic discrimination and life insurance: a systematic review of the evidence
Together, the 33 studies represent two decades' worth of research published from 1991 to 2012 (see Table 1). A small peak in the number of studies (eight studies) can be identified between 2006 and 2007, which can be linked to the charged political climate in the US and renewed academic interest that prefaced the adoption of GINA.
Genetic discrimination and life insurance: a systematic review of the evidence
This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0 ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Important methodological limitations and inconsistencies among the studies considered make it extremely difficult, at the moment, to justify policy action taken on the basis of evidence alone.
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