دورية أكاديمية

Multi-syndrome, multi-gene risk modeling for individuals with a family history of cancer with the novel R package PanelPRO

التفاصيل البيبلوغرافية
العنوان: Multi-syndrome, multi-gene risk modeling for individuals with a family history of cancer with the novel R package PanelPRO
المؤلفون: Gavin Lee, Jane W Liang, Qing Zhang, Theodore Huang, Christine Choirat, Giovanni Parmigiani, Danielle Braun
المصدر: eLife, Vol 10 (2021)
بيانات النشر: eLife Sciences Publications Ltd, 2021.
سنة النشر: 2021
المجموعة: LCC:Medicine
LCC:Science
LCC:Biology (General)
مصطلحات موضوعية: mendelian modeling, cancer risk, statistical software, pedigree data, Medicine, Science, Biology (General), QH301-705.5
الوصف: Identifying individuals who are at high risk of cancer due to inherited germline mutations is critical for effective implementation of personalized prevention strategies. Most existing models focus on a few specific syndromes; however, recent evidence from multi-gene panel testing shows that many syndromes are overlapping, motivating the development of models that incorporate family history on several cancers and predict mutations for a comprehensive panel of genes. We present PanelPRO, a new, open-source R package providing a fast, flexible back-end for multi-gene, multi-cancer risk modeling with pedigree data. It includes a customizable database with default parameter values estimated from published studies and allows users to select any combinations of genes and cancers for their models, including well-established single syndrome BayesMendel models (BRCAPRO and MMRPRO). This leads to more accurate risk predictions and ultimately has a high impact on prevention strategies for cancer and clinical decision making. The package is available for download for research purposes at https://projects.iq.harvard.edu/bayesmendel/panelproTest.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2050-084X
العلاقة: https://elifesciences.org/articles/68699Test; https://doaj.org/toc/2050-084XTest
DOI: 10.7554/eLife.68699
الوصول الحر: https://doaj.org/article/30151eb9e9c3417ebd4c31b84536a3e7Test
رقم الانضمام: edsdoj.30151eb9e9c3417ebd4c31b84536a3e7
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:2050084X
DOI:10.7554/eLife.68699