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

eLife

Qing Zhang¹  Theodore Huang²  Jane W Liang²  Giovanni Parmigani²  Danielle Braun²  Christine Choirat³  Gavin Lee³ 

[1] Broad Institute of MIT and Harvard, Cambridge, United States;Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, United States;Department of Data Sciences, Dana-Farber Cancer Institute, Boston, United States;Swiss Data Science Center, ETH Zürich and EPFL, Lausanne, Switzerland;

关键词: mendelian modeling;    cancer risk;    statistical software;    pedigree data;    None;   

DOI  :  10.7554/eLife.68699

来源: eLife Sciences Publications, Ltd

【 摘 要 】

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/panelpro.

【 授权许可】

CC BY