Evidence map›Paper›PMID 34406119›Full record

ArticleeLife2021

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

Gavin Lee, Jane W Liang, Qing Zhang, Theodore Huang, Christine Choirat, Giovanni Parmigiani, Danielle Braun

Abstract read
In one paragraph

Article in eLife, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. TheBioinformatics advances · 2025
    Article
  5. Meta-Analysis of Breast Cancer Risk for Individuals with PALB2 Pathogenic Variants.medRxiv : the preprint server for health sciences · 2024
    Article
  6. Article
  7. Article
  8. A validation of models for prediction of pathogenic variants in mismatch repair genes.Genetics in medicine : official journal of the American College of Medical Genetics · 2022
    Article
  9. Article
  10. Article
  11. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors.

Gavin Lee *Swiss Data Science Center, ETH Zürich and EPFL, Lausanne, Switzerland.ORCID https://orcid.org/0000-0003-2659-1163
Jane W Liang *Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, United States.ORCID https://orcid.org/0000-0002-2302-3809
Qing ZhangBroad Institute of MIT and Harvard, Cambridge, United States.
Theodore HuangDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, United States.
Christine ChoiratSwiss Data Science Center, ETH Zürich and EPFL, Lausanne, Switzerland.
Giovanni ParmigianiDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, United States.
Danielle BraunDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, United States.ORCID https://orcid.org/0000-0002-5177-8598

Funding

VectorP30CA006516 · NCI · DANA-FARBER CANCER INSTITUTE · PI JENNIFER W MACK · 1985 to 2026
$330.6M
Training Program in Cancer EpidemiologyT32CA009001 · NCI · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI A. Heather Eliassen, Meir Stampfer · 1985 to 2026
$17.3M
Training Grant in Quantitative Sciences for Cancer ResearchT32CA009337 · NCI · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI QUACKENBUSH, JOHN, TRIPPA, LORENZO · 1986 to 2025
$12.3M
NCI NIH HHS P30 CA006516NCI NIH HHS T32 CA009001NCI NIH HHS T32 CA009337
6 · The paper itself

Abstract

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.

Indexed as

Genetic Predisposition to DiseaseSoftwareFemaleGenetic TestingHumansMaleModels, GeneticMutationNeoplasmsPedigreeSyndromecancer biologycancer riskgeneticsgenomicsmendelian modelingnonepedigree datastatistical software

Identifiers

PMID34406119
PMCPMC8478415

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.