4.5 Article

CanRisk Tool-A Web Interface for the Prediction of Breast and Ovarian Cancer Risk and the Likelihood of Carrying Genetic Pathogenic Variants

期刊

CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
卷 30, 期 3, 页码 469-473

出版社

AMER ASSOC CANCER RESEARCH
DOI: 10.1158/1055-9965.EPI-20-1319

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资金

  1. Cancer Research UK [C12292/A20861, C1287/A16563, C8640/A23385]
  2. European Union [633784, 634935]
  3. Wellcome Trust Collaborative Award [203477/B/16/Z]
  4. PERSPECTIVE programme: The Government of Canada through Genome Canada
  5. PERSPECTIVE programme: The Government of Canada through Canadian Institutes of Health Research [GPH-129344]
  6. Ministere de l'Economie, de la Science et de l'Innovation du Quebec through Genome Quebec
  7. Quebec Breast Cancer Foundation
  8. Wellcome Trust [203477/B/16/Z] Funding Source: Wellcome Trust

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The CanRisk Tool is a next-generation web interface for the latest BOADICEA risk model, providing a user-friendly platform for multifactorial breast and ovarian cancer risk predictions. With over 3,100 account registrations and 98,000 risk calculations within the first 9 months of launch, it has shown significant impact in boosting accessibility for healthcare professionals and researchers.
Background: The CanRisk Tool (https://canrisk.org) is the next-generation web interface for the latest version of the BOADICEA (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm) state-of-the-art risk model and a forthcoming ovarian cancer risk model. Methods: The tool captures information on family history, rare pathogenic variants in cancer susceptibility genes, polygenic risk scores, lifestyle/hormonal/clinical features, and imaging risk factors to predict breast and ovarian cancer risks and estimate the probabilities of carrying pathogenic variants in certain genes. It was implemented using modern web frameworks, technologies, and web services to make it extensible and increase accessibility to researchers and third-party applications. The design of the graphical user interface was informed by feedback from health care professionals and a formal evaluation. Results: This freely accessible tool was designed to be user friendly for clinicians and to boost acceptability in clinical settings. The tool incorporates a novel graphical pedigree builder to facilitate collection of the family history data required by risk calculations. Conclusions: The CanRisk Tool provides health care professionals and researchers with a user-friendly interface to carry out multifactorial breast and ovarian cancer risk predictions. It is the first freely accessible cancer risk prediction program to carry the CE marking. Impact: There have been over 3,100 account registrations, and 98,000 breast and ovarian cancer risk calculations have been run within the first 9 months of the CanRisk Tool launch.

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