Purpose: Hereditary cancer risk is key to guiding screening and prevention strategies. Cancer risks can vary by individual due to the presence or absence of high- and moderate-risk pathogenic variants (PV) in cancer-associated genes, in addition to sex, age, and other risk factors. We previously developed Fam3PRO, a flexible multi-gene, multi-cancer Mendelian risk prediction model that estimates a patient's risk of carrying a PV in hereditary cancer genes and their future risk of developing several types of cancer. The Fam3PRO R package includes 22 genes with 18 associated cancers, allowing users to build customized sub-models from any gene-cancer set. However, the current R package lacks a user interface (UI), limiting its practical use in clinical settings. Therefore, we aim to develop a web-based UI for broader use of the Fam3PRO functionalities. Methods: The Fam3PRO UI (F3PI), built with R Shiny, collects and formats inputs including family health history, genetic test results, and other risk factors. Pedigree data are interactively visualized and modified via pedigreejs, while the backend Fam3PRO model takes all the inputs to generate carrier probabilities and future cancer risks, presented through an interactive UI. Results: F3PI streamlines the collection of patient and family history data, which is analyzed by the Fam3PRO models to provide personalized cancer risks for each proband across 18 cancers, as well as probabilities that a proband has a PV in up to 22 hereditary cancer genes. These results are returned to the user, within one minute on average and are available in both interactive and downloadable formats. Conclusion: We have developed F3PI, an easy-to-use, interactive web application that makes cancer and genetic risk information more accessible to providers and their patients.

翻译：目的：遗传性癌症风险是指导筛查和预防策略的关键。除性别、年龄及其他风险因素外，个体癌症风险可因癌症相关基因中是否存在高、中风险致病性变异（PV）而存在差异。我们先前开发了Fam3PRO，这是一个灵活的多基因、多癌症孟德尔风险预测模型，用于评估患者携带遗传性癌症基因中PV的风险及其未来罹患多种癌症的风险。Fam3PRO R包包含22个基因与18种相关癌症，允许用户从任意基因-癌症组合构建定制子模型。然而，当前R包缺乏用户界面（UI），限制了其在临床环境中的实际应用。因此，我们旨在开发一个基于网络的UI，以更广泛地利用Fam3PRO的功能。方法：Fam3PRO UI（F3PI）基于R Shiny构建，收集并格式化包括家族健康史、基因检测结果及其他风险因素在内的输入数据。谱系数据通过pedigreejs进行交互式可视化与修改，而后端Fam3PRO模型整合所有输入数据，生成携带者概率及未来癌症风险，并通过交互式UI呈现结果。结果：F3PI简化了患者及家族史数据的收集流程，经Fam3PRO模型分析后，可为每位先证者提供涵盖18种癌症的个性化癌症风险，以及先证者在多达22个遗传性癌症基因中存在PV的概率。这些结果平均在一分钟内返回给用户，并提供交互式与可下载两种格式。结论：我们开发了F3PI，这是一个易于使用的交互式网络应用程序，使医疗提供者及其患者能更便捷地获取癌症与遗传风险信息。