{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:52:15Z","timestamp":1787028735339,"version":"build-2736575974"},"reference-count":88,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2021,6,4]],"date-time":"2021-06-04T00:00:00Z","timestamp":1622764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Government of Canada through Genome Canada and Canadian Institutes of Health Research, Minist\u00e8re de l\u2019\u00c9conomie et de l'Innovation du Qu\u00e9bec through Genome Qu\u00e9bec, Quebec Breast Cancer Foundation, CHU de Quebec Foundation and Ontario Research Fund","award":["13529"],"award-info":[{"award-number":["13529"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>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&amp;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&amp;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.<\/jats:p>","DOI":"10.3390\/jpm11060511","type":"journal-article","created":{"date-parts":[[2021,6,4]],"date-time":"2021-06-04T11:12:13Z","timestamp":1622805133000},"page":"511","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":102,"title":["Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&amp;I)"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7574-4256","authenticated-orcid":false,"given":"Jennifer","family":"Brooks","sequence":"first","affiliation":[{"name":"Dalla Lana School of Public Health, University of Toronto, Toronto, ON M5S 1A1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hermann","family":"Nabi","sequence":"additional","affiliation":[{"name":"CHU de Qu\u00e9bec-Universit\u00e9 Laval Research Center, Qu\u00e9bec City, QC G1V 4G2, Canada"},{"name":"Department of Social and Preventive Medicine, Faculty of Medicine, Universit\u00e9 Laval, Qu\u00e9bec City, QC G1V 0A6, Canada"},{"name":"Universit\u00e9 Laval Cancer Research Center, Qu\u00e9bec City, QC G1R 3S3, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4226-6435","authenticated-orcid":false,"given":"Irene","family":"Andrulis","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Lunenfeld-Tanenbaum Research Institute, Sinai Health System, University of Toronto, Toronto, ON M5G 1X5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonis","family":"Antoniou","sequence":"additional","affiliation":[{"name":"Centre for Cancer 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Canadian Cancer Statistics Advisory Committee Canadian Cancer Statistics 2019. Available online: http:\/\/cancer.ca\/Canadian-Cancer-Statistics-2019-EN."},{"key":"ref_2","unstructured":"(2021, April 28). Guidelines for the Economic Evaluation of Health Technologies: Canada. Available online: https:\/\/www.cadth.ca\/about-cadth\/how-we-do-it\/methods-and-guidelines\/guidelines-for-the-economic-evaluation-of-health-technologies-canada."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"De Oliveira, C., Pataky, R., Bremner, K.E., Rangrej, J., Chan, K.K., Cheung, W.Y., Hoch, J.S., Peacock, S., and Krahn, M.D. (2016). Phase-specific and lifetime costs of cancer care in Ontario, Canada. BMC Cancer, 16.","DOI":"10.1186\/s12885-016-2835-7"},{"key":"ref_4","unstructured":"Patra, J., Popova, S., Rehm, J., Bondy, S., Flint, R., and Giesbrecht, N. (2021, April 28). Economic cost of chronic disease in Canada. Available online: https:\/\/www.ocdpa.ca\/sites\/default\/files\/publications\/OCDPA_EconomicCosts.pdf."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1016\/S0959-8049(99)00340-8","article-title":"Estimates of the lifetime costs of breast cancer treatment in Canada","volume":"36","author":"Will","year":"2000","journal-title":"Eur. J. Cancer"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"E1441","DOI":"10.1503\/cmaj.180463","article-title":"Recommendations on screening for breast cancer in women aged 40\u201374 years who are not at increased risk for breast cancer","volume":"190","author":"Klarenbach","year":"2018","journal-title":"Can. Med. Assoc. J."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"E1432","DOI":"10.1503\/cmaj.181538","article-title":"Wise guidance and its challenges: The new Canadian recommendations on breast cancer screening","volume":"190","author":"Korenstein","year":"2018","journal-title":"Can. Med. Assoc. J."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"2353","DOI":"10.1056\/NEJMsr1504363","article-title":"Breast-Cancer Screening\u2014Viewpoint of the IARC Working Group","volume":"372","author":"Scoccianti","year":"2015","journal-title":"N. Engl. J. Med."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1136\/jech.49.4.413","article-title":"Does routine screening for breast cancer raise anxiety? Results from a three wave prospective study in England","volume":"49","author":"Sutton","year":"1995","journal-title":"J. Epidemiol. Community Health"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.ypmed.2011.05.012","article-title":"Overdiagnosis in breast cancer: Design and methods of estimation in observational studies","volume":"53","author":"Puliti","year":"2011","journal-title":"Prev. Med."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1038\/ng853","article-title":"Polygenic susceptibility to breast cancer and implications for prevention","volume":"31","author":"Pharoah","year":"2002","journal-title":"Nat. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"2796","DOI":"10.1056\/NEJMsa0708739","article-title":"Polygenes, risk prediction, and targeted prevention of breast cancer","volume":"358","author":"Pharoah","year":"2008","journal-title":"N. Engl. J. Med."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"2224","DOI":"10.1200\/JCO.2013.52.8331","article-title":"Effectiveness of screening with annual magnetic resonance imaging and mammography: Results of the initial screen from the ontario high risk breast screening program","volume":"32","author":"Chiarelli","year":"2014","journal-title":"J. Clin. Oncol."},{"key":"ref_14","unstructured":"Canadian Partnership Against Cancer (2017). Breast Cancer Screening in Canada: Monitoring and Evaluation of Quality Indicator\u2014Results Report, January 2011 to December 2012, Canadian Partnership Against Cancer."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1093\/jnci\/djz079","article-title":"Performance Measures of Magnetic Resonance Imaging Plus Mammography in the High Risk Ontario Breast Screening Program","volume":"112","author":"Chiarelli","year":"2019","journal-title":"J. Natl. Cancer Inst."},{"key":"ref_16","unstructured":"National Comprehensive Cancer Network (NCCN) (2021, June 02). NCCN Guidelines Version 1.2019 Breast Cancer Screening and Diagnosis. Available online: www.nccn.org."},{"key":"ref_17","unstructured":"National Institute of Health and Care Excellence (2013). Familial Breast Cancer: Classification and Care of People at Risk of Familial Breast Cancer and Management of Breast Cancer and Related Risks in People with a Family History of Breast Cancer, National Collaborating Centre for Cancer."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"75","DOI":"10.3322\/canjclin.57.2.75","article-title":"American Cancer Society Guidelines for Breast Screening with MRI as an Adjunct to Mammography","volume":"57","author":"Saslow","year":"2007","journal-title":"CA Cancer J. Clin."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"2243","DOI":"10.1056\/NEJMsr1501341","article-title":"Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk","volume":"372","author":"Easton","year":"2015","journal-title":"N. Engl. J. Med."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1056\/NEJMoa1913948","article-title":"Breast Cancer Risk Gene\u2014Association Analysis in More than 113,000 Women","volume":"384","author":"Dorling","year":"2021","journal-title":"N. Engl. J. Med."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1056\/NEJMoa2005936","article-title":"A Population-Based Study of Genes Previously Implicated in Breast Cancer","volume":"384","author":"Hu","year":"2021","journal-title":"N. Engl. J. Med."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/nature24284","article-title":"Association analysis identifies 65 new breast cancer risk loci","volume":"551","author":"Michailidou","year":"2017","journal-title":"Nature"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.ajhg.2018.11.002","article-title":"Polygenic risk scores for prediction of breast cancer and breast cancer subtypes","volume":"104","author":"Mavaddat","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/s13058-021-01399-7","article-title":"Comparative validation of the BOADICEA and Tyrer-Cuzick breast cancer risk models incorporating classical risk factors and polygenic risk in a population-based prospective cohort of women of European ancestry","volume":"23","author":"Choudhury","year":"2021","journal-title":"Breast Cancer Res."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1803","DOI":"10.1038\/s41436-020-0884-4","article-title":"Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort","volume":"22","author":"Lakeman","year":"2020","journal-title":"Genet. Med."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1708","DOI":"10.1038\/s41436-018-0406-9","article-title":"BOADICEA: A comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors","volume":"21","author":"Lee","year":"2019","journal-title":"Genet. Med."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1016\/S1470-2045(18)30902-1","article-title":"10-year performance of four models of breast cancer risk: A validation study","volume":"20","author":"Terry","year":"2019","journal-title":"Lancet Oncol."},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Pashayan, N., Antoniou, A.C., Ivanus, U., Esserman, L.J., Easton, D.F., French, D., Sroczynski, G., Hall, P., Cuzick, J., and Evans, D.G. (2020). Personalized early detection and prevention of breast cancer: ENVISION consensus statement. Nat. Rev. Clin. Oncol.","DOI":"10.1038\/s41571-020-0412-0"},{"key":"ref_29","doi-asserted-by":"crossref","unstructured":"Nepomuceno, T.C., Carvalho, M.A., Rodrigue, A., Simard, J., Masson, J.Y., and Monteiro, A.N.A. (2020). PALB2 Variants: Protein Domains and Cancer Susceptibility. Trends Cancer.","DOI":"10.1016\/j.trecan.2020.10.002"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"10662","DOI":"10.1093\/nar\/gkz780","article-title":"A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor","volume":"47","author":"Rodrigue","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1038\/s41436-019-0682-z","article-title":"Functional characterization of 84 PALB2 variants of uncertain significance","volume":"22","author":"Wiltshire","year":"2020","journal-title":"Genet. Med."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"5296","DOI":"10.1038\/s41467-019-13194-2","article-title":"Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2","volume":"10","author":"Boonen","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1038\/nature13695","article-title":"Saturation editing of genomic regions by multiplex homology-directed repair","volume":"513","author":"Findlay","year":"2014","journal-title":"Nature"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/s41588-019-0537-1","article-title":"Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes","volume":"52","author":"Fachal","year":"2020","journal-title":"Nat. Genet."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1767","DOI":"10.1038\/ng.3785","article-title":"Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer","volume":"49","author":"Milne","year":"2017","journal-title":"Nat. Genet."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1038\/s41588-020-0609-2","article-title":"Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses","volume":"52","author":"Zhang","year":"2020","journal-title":"Nat. Genet."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1653","DOI":"10.1038\/s41436-020-0862-x","article-title":"Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants","volume":"22","author":"Barnes","year":"2020","journal-title":"Genet. Med."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1295","DOI":"10.1001\/jamaoncol.2016.1025","article-title":"Breast Cancer Risk From Modifiable and Nonmodifiable Risk Factors Among White Women in the United States","volume":"2","author":"Maas","year":"2016","journal-title":"JAMA Oncol."},{"key":"ref_39","unstructured":"Kapoor, P.M., Mavaddat, N., Choudhury, P.P., Wilcox, A.N., Lindstr\u00f6m, S., Behrens, S., Michailidou, K., Dennis, J., Bolla, M.K., and Wang, Q. (2020). Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk. J. Natl. Cancer Inst."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1457","DOI":"10.1038\/sj.bjc.6604305","article-title":"The BOADICEA model of genetic susceptibility to breast and ovarian cancers: Updates and extensions","volume":"98","author":"Antoniou","year":"2008","journal-title":"Br. J. Cancer"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1190","DOI":"10.1038\/gim.2016.31","article-title":"Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model","volume":"18","author":"Lee","year":"2016","journal-title":"Genet. Med."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1296","DOI":"10.1038\/bjc.2013.382","article-title":"Prospective validation of the breast cancer risk prediction model BOADICEA and a batch-mode version BOADICEACentre","volume":"109","author":"MacInnis","year":"2013","journal-title":"Br. J. Cancer"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"3833","DOI":"10.1038\/s41467-020-17680-w","article-title":"European polygenic risk score for prediction of breast cancer shows similar performance in Asian women","volume":"11","author":"Ho","year":"2020","journal-title":"Nat. Commun."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"E272","DOI":"10.9778\/cmajo.20180062","article-title":"Harmonization of the Health and Risk Factor Questionnaire Data of the Canadian Partnership for Tomorrow Project: A descriptive analysis","volume":"7","author":"Fortier","year":"2019","journal-title":"CMAJ Open"},{"key":"ref_45","doi-asserted-by":"crossref","unstructured":"Carver, T., Hartley, S., Lee, A., Cunningham, A.P., Archer, S., Babb de Villiers, C., Roberts, J., Ruston, R., Walter, F.M., and Tischkowitz, M. (2020). CanRisk Tool\u2014A Web Interface for the Prediction of Breast and Ovarian Cancer Risk and the Likelihood of Carrying Genetic Pathogenic Variants. Cancer Epidemiol. Biomark. Prev.","DOI":"10.1158\/1055-9965.EPI-20-1319"},{"key":"ref_46","doi-asserted-by":"crossref","unstructured":"Archer, S., Babb de Villiers, C., Scheibl, F., Carver, T., Hartley, S., Lee, A., Cunningham, A.P., Easton, D.F., McIntosh, J.G., and Emery, J. (2020). Evaluating clinician acceptability of the prototype CanRisk tool for predicting risk of breast and ovarian cancer: A multi-methods study. PLoS ONE, 15.","DOI":"10.1371\/journal.pone.0229999"},{"key":"ref_47","unstructured":"(2021, April 28). Regulation (EU) 2017\/745 of the European Parliament and of the Council on medical devices. Available online: https:\/\/eur-lex.europa.eu\/legal-content\/EN\/TXT\/?uri=CELEX%3A32017R0745."},{"key":"ref_48","unstructured":"(2021, April 28). Regulation (EU) 2017\/746 of the European Parliament and of the Council on in vitro Diagnostic Medical Devices. Available online: https:\/\/eur-lex.europa.eu\/legal-content\/EN\/TXT\/?uri=CELEX:32017R0746."},{"key":"ref_49","unstructured":"(2021, April 28). Medical Devices Regulations, SOR\/98-282. Available online: https:\/\/laws-lois.justice.gc.ca\/eng\/regulations\/sor-98-282\/."},{"key":"ref_50","unstructured":"(2021, April 28). European Commission Guidelines on the Qualification and Classification of Stand Alone Software Used in Healthcare within the Regulatory Framework of Medical Devices. Available online: https:\/\/ec.europa.eu\/docsroom\/documents\/17921."},{"key":"ref_51","unstructured":"Health Canada (2021, April 28). Guidance Document Software as Medical Device (SaMD). Definition and Classification. (Canada: Health Canada, 2019), Available online: https:\/\/www.canada.ca\/en\/health-canada\/services\/drugs-health-products\/medical-devices\/application-information\/guidance-documents\/software-medical-device-guidance-document.html."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"1702","DOI":"10.1002\/humu.23621","article-title":"Genetic database software as medical devices","volume":"39","author":"Thorogood","year":"2018","journal-title":"Hum. Mutat."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1093\/jnci\/djz131","article-title":"Annual vs Biennial Screening: Diagnostic Accuracy Among Concurrent Cohorts Within the Ontario Breast Screening Program","volume":"112","author":"Chiarelli","year":"2020","journal-title":"J. Natl. Cancer Inst."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1177\/0969141318816736","article-title":"Breast cancer subtype and screening sensitivity in the Quebec Mammography Screening Program","volume":"26","author":"Perron","year":"2019","journal-title":"J. Med. Screen."},{"key":"ref_55","unstructured":"Green, L., and Kreuter, M. (2005). Health Program Planning: An Educational and Ecological Approach, McGraw-Hill."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1159\/000345941","article-title":"Stratified cancer screening: The practicalities of implementation","volume":"16","author":"Dent","year":"2013","journal-title":"Public Health Genom."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"djw301","DOI":"10.1093\/jnci\/djw301","article-title":"The complexity of achieving the promise of precision breast cancer screening","volume":"109","author":"Haas","year":"2017","journal-title":"J. Natl. Cancer Inst."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1158\/1055-9965.EPI-16-0555","article-title":"Population-based precision cancer screening: A symposium on evidence, epidemiology, and next steps","volume":"25","author":"Marcus","year":"2016","journal-title":"Cancer Epidemiol. Biomark. Prev."},{"key":"ref_59","doi-asserted-by":"crossref","unstructured":"Mbuya Bienge, C., Pashayan, N., Brooks, J.D., Dorval, M., Chiquette, J., Eloy, L., Turgeon, A., Lambert-C\u00f4t\u00e9, L., Paquette, J.S., and L\u00e9vesque, E. (2021). Women\u2019s Views on Multifactorial Breast Cancer Risk Assessment and Risk-Stratified Screening: A Population-Based Survey from Four Provinces in Canada. J. Pers. Med., 11.","DOI":"10.3390\/jpm11020095"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"353","DOI":"10.3917\/spub.163.0353","article-title":"Influence of organizational factors on implementation of a personalized approach to breast cancer screening","volume":"28","author":"Hagan","year":"2016","journal-title":"Sante Publique"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1080\/14636778.2018.1549477","article-title":"Organizational challenges to equity in the delivery of services within a new personalized risk-based approach to breast cancer screening","volume":"38","author":"Hagan","year":"2019","journal-title":"New Genet. Soc."},{"key":"ref_62","first-page":"39","article-title":"Envisioning Implementation of a Personalized Approach in Breast Cancer Screening Programs: Stakeholder Perspectives","volume":"15","author":"Hagan","year":"2019","journal-title":"Healthc. Policy"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"128","DOI":"10.3389\/fgene.2017.00128","article-title":"Breast cancer risk estimation and personal insurance: A qualitative study presenting perspectives from canadian patients and decision makers","volume":"8","author":"Salman","year":"2017","journal-title":"Front. Genet."},{"key":"ref_64","first-page":"1","article-title":"Regulatory approval for new pharmacogenomic tests: A comparative overview","volume":"66","author":"Joly","year":"2011","journal-title":"Food Drug Law J."},{"key":"ref_65","unstructured":"L\u00e9vesque, E., and Knoppers, B.M. (2021). Faire Jouer un R\u00f4le \u00c9largi aux Infirmi\u00e8res Dans une Approche Individualis\u00e9e de D\u00e9pistage du Cancer du Sein: Analyse des Options Juridiques, Faculty of Law, McGill University. in press."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1200\/JCO.2013.51.3226","article-title":"Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer","volume":"32","author":"Schwartz","year":"2014","journal-title":"J. Clin. Oncol."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"2914","DOI":"10.1200\/JCO.2015.65.9557","article-title":"Randomized Noninferiority Trial of Telephone Delivery of BRCA1\/2 Genetic Counseling Compared With In-Person Counseling: 1-Year Follow-Up","volume":"34","author":"Kinney","year":"2016","journal-title":"J. Clin. Oncol."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1007\/s10897-015-9897-6","article-title":"Patient perceptions of telephone vs. in-person BRCA1\/BRCA2 genetic counseling","volume":"25","author":"Peshkin","year":"2016","journal-title":"J. Genet. Couns."},{"key":"ref_69","unstructured":"L\u00e9vesque, E., and Knoppers, B.M. (2021). La T\u00e9l\u00e9sant\u00e9\u0301 au Qu\u00e9bec: Quel Encadrement Pour la Consultation Vid\u00e9o? Revue de Droit de l\u2019Universit\u00e9\u0301 de Sherbrooke, \u00c9ditions RDUS. in press."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1038\/s41588-020-0606-5","article-title":"Establishing the International Genetic Discrimination Observatory","volume":"52","author":"Joly","year":"2020","journal-title":"Nat. Genet."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"94","DOI":"10.7202\/1064941ar","article-title":"Is Genetic Discrimination Back on the Radar? A Commentary on the Recent Court of Appeal Reference Decision on the Genetic Non-Discrimination Act (GNDA)","volume":"2","author":"Joly","year":"2019","journal-title":"Can. J. Bioeth.\/Revue Can. Bio\u00e9th."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"401","DOI":"10.3747\/co.24.3850","article-title":"The OncoSim model: Development and use for better decision-making in Canadian cancer control","volume":"24","author":"Gauvreau","year":"2017","journal-title":"Curr. Oncol."},{"key":"ref_73","unstructured":"Wolfson, M., Gribble, S., Pashayan, N., Easton, D.F., Antoniou, A.C., Lee, A., van Katwyk, S., and Simard, J. Potential of Polygenic Risk Scores for Improving Population Estimates of Women\u2019s Breast Cancer Genetic Risks. Genet. Med., accepted."},{"key":"ref_74","first-page":"16","article-title":"Total cost-effectiveness of mammography screening strategies","volume":"26","author":"Mittmann","year":"2015","journal-title":"Health Rep."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"E77","DOI":"10.9778\/cmajo.20170106","article-title":"Cost-effectiveness of mammography from a publicly funded health care system perspective","volume":"6","author":"Mittmann","year":"2018","journal-title":"CMAJ Open"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"2772","DOI":"10.1002\/1097-0142(197706)39:6<2772::AID-CNCR2820390665>3.0.CO;2-K","article-title":"Evidence on screening for breast cancer from a randomized trial","volume":"39","author":"Shapiro","year":"1977","journal-title":"Cancer"},{"key":"ref_77","doi-asserted-by":"crossref","unstructured":"Coldman, A., Phillips, N., Wilson, C., Decker, K., Chiarelli, A.M., Brisson, J., Zhang, B., Payne, J., Doyle, G., and Ahmad, R. (2014). Pan-Canadian study of mammography screening and mortality from breast cancer. J. Natl. Cancer Inst., 106.","DOI":"10.1093\/jnci\/dju261"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"244","DOI":"10.7326\/M15-0969","article-title":"Effectiveness of Breast Cancer Screening: Systematic Review and Meta-analysis to Update the 2009 U.S. Preventive Services Task Force Recommendation","volume":"164","author":"Nelson","year":"2016","journal-title":"Ann. Intern. Med."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.maturitas.2016.08.003","article-title":"Discussing the benefits and harms of screening mammography","volume":"92","author":"Brennan","year":"2016","journal-title":"Maturitas"},{"key":"ref_80","doi-asserted-by":"crossref","unstructured":"G\u00f8tzsche, P.C., and J\u00f8rgensen, K.J. (2013). Screening for breast cancer with mammography. Cochrane Database Syst. Rev.","DOI":"10.1002\/14651858.CD001877.pub5"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"1615","DOI":"10.1001\/jama.2015.13183","article-title":"Benefits and Harms of Breast Cancer Screening: A Systematic Review","volume":"314","author":"Myers","year":"2015","journal-title":"JAMA"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1093\/jnci\/84.10.781","article-title":"Case-Control Study of Factors Associated With Failure to Detect Breast Cancer by Mammography","volume":"84","author":"Ma","year":"1992","journal-title":"J. Natl. Cancer Inst."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1093\/jnci\/92.13.1081","article-title":"Breast Density as a Predictor of Mammographic Detection: Comparison of Interval- and Screen-Detected Cancers","volume":"92","author":"Mandelson","year":"2000","journal-title":"J. Natl. Cancer Inst."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1038\/s41523-017-0035-5","article-title":"The WISDOM Study: Breaking the deadlock in the breast cancer screening debate","volume":"3","author":"Esserman","year":"2017","journal-title":"NPJ Breast Cancer"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"djw290","DOI":"10.1093\/jnci\/djw290","article-title":"Breast Cancer Screening in the Precision Medicine Era: Risk-Based Screening in a Population-Based Trial","volume":"109","author":"Shieh","year":"2017","journal-title":"J. Natl. Cancer Inst."},{"key":"ref_86","unstructured":"(2021, February 06). The Project\u2014MyPeBS. Available online: https:\/\/mypebs.eu\/the-project\/."},{"key":"ref_87","doi-asserted-by":"crossref","unstructured":"Evans, D.G., Astley, S., Stavrinos, P., Harkness, E., Donnelly, L.S., Dawe, S., Jacob, I., Harvie, M., Cuzick, J., and Brentnall, A. (2016). Improvement in Risk prediction, Early Detection and Prevention of Breast Cancer in the NHS Breast Screening Programme and Family History Clinics: A Dual Cohort Study, NIHR Journals Library.","DOI":"10.3310\/pgfar04110"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"1504","DOI":"10.1001\/jamaoncol.2018.1901","article-title":"Cost-effectiveness and Benefit-to-Harm Ratio of Risk-Stratified Screening for Breast Cancer: A Life-Table Model","volume":"4","author":"Pashayan","year":"2018","journal-title":"JAMA Oncol."}],"container-title":["Journal of Personalized Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4426\/11\/6\/511\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:10:50Z","timestamp":1760163050000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4426\/11\/6\/511"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,4]]},"references-count":88,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2021,6]]}},"alternative-id":["jpm11060511"],"URL":"https:\/\/doi.org\/10.3390\/jpm11060511","relation":{},"ISSN":["2075-4426"],"issn-type":[{"value":"2075-4426","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,4]]}}}