Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I)

Jennifer D Brooks¹, Hermann H Nabi^{2

3

4}, Irene L Andrulis⁵, Antonis C Antoniou⁶, Jocelyne Chiquette^{2

7}, Philippe Després⁸, Peter Devilee⁹, Michel Dorval^{2

4

10

11}, Arnaud Droit¹², Douglas F Easton⁶, Andrea Eisen¹³, Laurence Eloy¹⁴, Samantha Fienberg¹⁵, David Goldgar¹⁶, Eric Hahnen¹⁷, Yann Joly¹⁸, Bartha Maria Knoppers¹⁸, Aisha Lofters¹⁹, Jean-Yves Masson^{2

4}, Nicole Mittmann^{13

20}, Jean-Sébastien Paquette⁷, Nora Pashayan²¹, Rita Schmutzler¹⁷, Tracy Stockley^{22

23}, Sean V Tavtigian¹⁶, Meghan J Walker^{1

15}, Michael Wolfson²⁴, Anna Maria Chiarelli^{1

15}, Jacques Simard^{2

12}

Affiliations

¹ Dalla Lana School of Public Health, University of Toronto, Toronto, ON M5S 1A1, Canada.
² CHU de Québec-Université Laval Research Center, Québec City, QC G1V 4G2, Canada.
³ Department of Social and Preventive Medicine, Faculty of Medicine, Université Laval, Québec City, QC G1V 0A6, Canada.
⁴ Université Laval Cancer Research Center, Québec City, QC G1R 3S3, Canada.
⁵ Department of Molecular Genetics, Lunenfeld-Tanenbaum Research Institute, Sinai Health System, University of Toronto, Toronto, ON M5G 1X5, Canada.
⁶ Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, School of Clinical Medicine, University of Cambridge, Cambridge CB1 8RN, UK.
⁷ Department of Family Medicine and Emergency Medicine, Faculty of Medicine, Université Laval, Québec City, QC G1V 4G2, Canada.
⁸ Department of Physics, Engineering Physics and Optics, Faculty of Science and Engineering, Université Laval, Québec City, QC G1V 0A6, Canada.
⁹ Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
¹⁰ Faculty of Pharmacy, Université Laval, Québec City, QC G1V 4G2, Canada.
¹¹ CISSS de Chaudière-Appalaches Research Center, Lévis, QC G6V 3Z1, Canada.
¹² Department of Molecular Medicine, Faculty of Medicine, Université Laval, Québec City, QC G1V 4G2, Canada.
¹³ Sunnybrook Health Science Center, Toronto, ON M4N 3M5, Canada.
¹⁴ Programme Québécois de Cancérologie, Ministère de la Santé et des Services Sociaux, Québec City, QC G1S 2M1, Canada.
¹⁵ Ontario Health, Cancer Care Ontario, Toronto, ON M5G 2L3, Canada.
¹⁶ Department of Oncological Sciences and Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA.
¹⁷ Centre for Familial Breast and Ovarian Cancer, Center for Integrated Oncology, Medical Faculty, University Hospital Cologne, 50937 Köln, Germany.
¹⁸ Centre of Genomics and Policy, McGill University, Montreal, QC H3A 0G1, Canada.
¹⁹ Women's College Research Institute, Toronto, ON M5G 1N8, Canada.
²⁰ Canadian Agency for Drugs and Technologies in Health, Toronto, ON M5H 3Y9, Canada.
²¹ Department of Applied Health Research, Institute of Epidemiology and Healthcare, University College London, London WC1E 6BT, UK.
²² Division of Clinical Laboratory Genetics, University Health Network, Toronto, ON M5G 2C4, Canada.
²³ Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5S 1A8, Canada.
²⁴ School of Epidemiology and Public Health, University of Ottawa, Ottawa, ON K1G 5Z3, Canada.

PMID: 34199804
PMCID: PMC8226444
DOI: 10.3390/jpm11060511

Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I)

Jennifer D Brooks et al. J Pers Med. 2021.

. 2021 Jun 4;11(6):511.

doi: 10.3390/jpm11060511.

Authors

Affiliations

¹ Dalla Lana School of Public Health, University of Toronto, Toronto, ON M5S 1A1, Canada.
² CHU de Québec-Université Laval Research Center, Québec City, QC G1V 4G2, Canada.
³ Department of Social and Preventive Medicine, Faculty of Medicine, Université Laval, Québec City, QC G1V 0A6, Canada.
⁴ Université Laval Cancer Research Center, Québec City, QC G1R 3S3, Canada.
⁵ Department of Molecular Genetics, Lunenfeld-Tanenbaum Research Institute, Sinai Health System, University of Toronto, Toronto, ON M5G 1X5, Canada.
⁶ Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, School of Clinical Medicine, University of Cambridge, Cambridge CB1 8RN, UK.
⁷ Department of Family Medicine and Emergency Medicine, Faculty of Medicine, Université Laval, Québec City, QC G1V 4G2, Canada.
⁸ Department of Physics, Engineering Physics and Optics, Faculty of Science and Engineering, Université Laval, Québec City, QC G1V 0A6, Canada.
⁹ Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
¹⁰ Faculty of Pharmacy, Université Laval, Québec City, QC G1V 4G2, Canada.
¹¹ CISSS de Chaudière-Appalaches Research Center, Lévis, QC G6V 3Z1, Canada.
¹² Department of Molecular Medicine, Faculty of Medicine, Université Laval, Québec City, QC G1V 4G2, Canada.
¹³ Sunnybrook Health Science Center, Toronto, ON M4N 3M5, Canada.
¹⁴ Programme Québécois de Cancérologie, Ministère de la Santé et des Services Sociaux, Québec City, QC G1S 2M1, Canada.
¹⁵ Ontario Health, Cancer Care Ontario, Toronto, ON M5G 2L3, Canada.
¹⁶ Department of Oncological Sciences and Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA.
¹⁷ Centre for Familial Breast and Ovarian Cancer, Center for Integrated Oncology, Medical Faculty, University Hospital Cologne, 50937 Köln, Germany.
¹⁸ Centre of Genomics and Policy, McGill University, Montreal, QC H3A 0G1, Canada.
¹⁹ Women's College Research Institute, Toronto, ON M5G 1N8, Canada.
²⁰ Canadian Agency for Drugs and Technologies in Health, Toronto, ON M5H 3Y9, Canada.
²¹ Department of Applied Health Research, Institute of Epidemiology and Healthcare, University College London, London WC1E 6BT, UK.
²² Division of Clinical Laboratory Genetics, University Health Network, Toronto, ON M5G 2C4, Canada.
²³ Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5S 1A8, Canada.
²⁴ School of Epidemiology and Public Health, University of Ottawa, Ottawa, ON K1G 5Z3, Canada.

PMID: 34199804
PMCID: PMC8226444
DOI: 10.3390/jpm11060511

Abstract

Early detection of breast cancer through screening reduces breast cancer mortality. The benefits of screening must also be considered within the context of potential harms (e.g., false positives, overdiagnosis). Furthermore, while breast cancer risk is highly variable within the population, most screening programs use age to determine eligibility. A risk-based approach is expected to improve the benefit-harm ratio of breast cancer screening programs. The PERSPECTIVE I&I (Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation) project seeks to improve personalized risk assessment to allow for a cost-effective, population-based approach to risk-based screening and determine best practices for implementation in Canada. This commentary describes the four inter-related activities that comprise the PERSPECTIVE I&I project. 1: Identification and validation of novel moderate to high-risk susceptibility genes. 2: Improvement, validation, and adaptation of a risk prediction web-tool for the Canadian context. 3: Development and piloting of a socio-ethical framework to support implementation of risk-based breast cancer screening. 4: Economic analysis to optimize the implementation of risk-based screening. Risk-based screening and prevention is expected to benefit all women, empowering them to work with their healthcare provider to make informed decisions about screening and prevention.

Keywords: breast cancer; risk prediction; risk stratification; screening.

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Conflict of interest statement

BOADICEA has been licensed to Cambridge Enterprise (University of Cambridge) and ACA and DFE are listed as creators. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

Figures

**Figure 1**
Overview of the PERSPECTIVE I&I project.

**Figure 2**
Framework to support implementation of a personalized risk-based approach to breast cancer screening.

**Figure 3**
Data collection pathway for the PERSPECTIVE I&I Project. ^a upon request for Average and Higher than average risk categories.

See this image and copyright information in PMC

References

1. Canadian Cancer Statistics Advisory Committee Canadian Cancer Statistics 2019. [(accessed on 6 February 2021)]; Available online: http://cancer.ca/Canadian-Cancer-Statistics-2019-EN.
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1. Patra J., Popova S., Rehm J., Bondy S., Flint R., Giesbrecht N. Economic cost of chronic disease in Canada. [(accessed on 28 April 2021)]; Available online: https://www.ocdpa.ca/sites/default/files/publications/OCDPA_EconomicCost....
1. Will B., Berthelot J.-M., Le Petit C., Tomiak E., Verma S., Evans W. Estimates of the lifetime costs of breast cancer treatment in Canada. Eur. J. Cancer. 2000;36:724–735. doi: 10.1016/S0959-8049(99)00340-8. - DOI - PubMed

Grants and funding

13529/Government of Canada through Genome Canada and Canadian Institutes of Health Research, Ministère de l'Économie et de l'Innovation du Québec through Genome Québec, Quebec Breast Cancer Foundation, CHU de Quebec Foundation and Ontario Research Fund

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Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I)

Affiliations

Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I)

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

Grants and funding

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