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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.基于欧洲血统女性的人群前瞻性队列中，纳入经典风险因素和多基因风险的 BOADICEA 和 Tyrer-Cuzick 乳腺癌风险模型的比较验证。
Breast Cancer Res. 2021 Feb 15;23(1):22. doi: 10.1186/s13058-021-01399-7.
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Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.遗传/家族性高风险评估：乳腺癌、卵巢癌和胰腺癌，第 2.2021 版，NCCN 肿瘤学临床实践指南。
J Natl Compr Canc Netw. 2021 Jan 6;19(1):77-102. doi: 10.6004/jnccn.2021.0001.
3
Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort.验证 BOADICEA 模型和一个包含 313 个变异的多基因风险评分在荷兰前瞻性队列中对乳腺癌风险预测的性能。
Genet Med. 2020 Nov;22(11):1803-1811. doi: 10.1038/s41436-020-0884-4. Epub 2020 Jul 6.
4
Evaluating clinician acceptability of the prototype CanRisk tool for predicting risk of breast and ovarian cancer: A multi-methods study.评估原型 CanRisk 工具预测乳腺癌和卵巢癌风险的临床医生可接受性：一项多方法研究。
PLoS One. 2020 Mar 6;15(3):e0229999. doi: 10.1371/journal.pone.0229999. eCollection 2020.
5
BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors.BOADICEA：一种综合乳腺癌风险预测模型，纳入了遗传和非遗传风险因素。
Genet Med. 2019 Aug;21(8):1708-1718. doi: 10.1038/s41436-018-0406-9. Epub 2019 Jan 15.
6
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.多基因风险评分在乳腺癌及乳腺癌亚型预测中的应用。
Am J Hum Genet. 2019 Jan 3;104(1):21-34. doi: 10.1016/j.ajhg.2018.11.002. Epub 2018 Dec 13.
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.
8
Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model.将PALB2、CHEK2和ATM中的截短变异纳入BOADICEA乳腺癌风险模型。
Genet Med. 2016 Dec;18(12):1190-1198. doi: 10.1038/gim.2016.31. Epub 2016 Apr 14.
9
A risk prediction algorithm for ovarian cancer incorporating BRCA1, BRCA2, common alleles and other familial effects.一种纳入BRCA1、BRCA2、常见等位基因及其他家族性因素的卵巢癌风险预测算法。
J Med Genet. 2015 Jul;52(7):465-75. doi: 10.1136/jmedgenet-2015-103077. Epub 2015 May 29.
10
Cancer screening in the United States, 2015: a review of current American cancer society guidelines and current issues in cancer screening.美国 2015 年癌症筛查：对当前美国癌症协会指南和癌症筛查中当前问题的回顾。
CA Cancer J Clin. 2015 Jan-Feb;65(1):30-54. doi: 10.3322/caac.21261. Epub 2015 Jan 8.

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.

DOI:10.1158/1055-9965.EPI-20-1319
PMID:33335023
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7611188/
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。