Suppr超能文献

CanRisk 工具——用于预测乳腺癌和卵巢癌风险以及携带遗传致病性变异可能性的网络界面。

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

机构信息

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.

Centre for Computational Biology, University of Birmingham, Birmingham, United Kingdom.

出版信息

Cancer Epidemiol Biomarkers Prev. 2021 Mar;30(3):469-473. doi: 10.1158/1055-9965.EPI-20-1319. Epub 2020 Dec 17.

Abstract

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.

摘要

背景

CanRisk 工具(https://canrisk.org)是下一代 BOADICEA(乳腺癌和卵巢疾病发病和携带者估计算法)最新版本的网络界面,也是即将推出的卵巢癌风险模型。

方法

该工具捕获家族史、癌症易感性基因中的罕见致病性变异、多基因风险评分、生活方式/激素/临床特征以及影像学风险因素等信息,以预测乳腺癌和卵巢癌风险,并估计携带特定基因致病性变异的概率。它使用现代网络框架、技术和 Web 服务实现,使其具有可扩展性,并增加了研究人员和第三方应用程序的可访问性。图形用户界面的设计是根据医疗保健专业人员的反馈和正式评估来确定的。

结果

该免费工具旨在为临床医生提供用户友好的体验,并提高其在临床环境中的接受度。该工具采用了新颖的图形系谱构建器,以方便收集风险计算所需的家族史数据。

结论

CanRisk 工具为医疗保健专业人员和研究人员提供了一个用户友好的界面,可进行多因素乳腺癌和卵巢癌风险预测。它是第一个获得 CE 标志的免费癌症风险预测程序。

影响

在 CanRisk 工具推出的头 9 个月内,已经有超过 3100 个账户注册,进行了 98000 次乳腺癌和卵巢癌风险计算。

相似文献

引用本文的文献

本文引用的文献

7
pedigreejs: a web-based graphical pedigree editor. pedigreejs:一个基于网络的图形系谱编辑器。
Bioinformatics. 2018 Mar 15;34(6):1069-1071. doi: 10.1093/bioinformatics/btx705.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验