Evidence mapPaperPMID 40601893Full record

ArticleJCO precision oncology2025

Polygenic Score Complements Family History and Lynch Syndrome Genes for Predicting Colorectal Cancer Risk.

Talia Y Helfand, Jun Wei, Ashley J Mulford, Huy Tran, Zhuqing Shi, Chi-Hsiung Wang, Andrew S Rifkin, Annabelle Ashworth, S Lilly Zheng, Brian T Helfand and 6 more

Abstract read
In one paragraph

Article in JCO precision oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
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

4 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
  4. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Talia Y HelfandProgram for Genomic Translational Research, NorthShore University HealthSystem (Endeavor Health), Evanston, IL.
Jun WeiProgram for Genomic Translational Research, NorthShore University HealthSystem (Endeavor Health), Evanston, IL.
Ashley J MulfordGenomic Health Initiative, Endeavor Health, Evanston, IL.
Huy TranProgram for Genomic Translational Research, NorthShore University HealthSystem (Endeavor Health), Evanston, IL.ORCID 0009-0006-1648-3280
Zhuqing ShiProgram for Genomic Translational Research, NorthShore University HealthSystem (Endeavor Health), Evanston, IL.
Chi-Hsiung WangProgram for Genomic Translational Research, NorthShore University HealthSystem (Endeavor Health), Evanston, IL.
Andrew S RifkinProgram for Genomic Translational Research, NorthShore University HealthSystem (Endeavor Health), Evanston, IL.ORCID 0009-0004-9038-7014
Annabelle AshworthProgram for Genomic Translational Research, NorthShore University HealthSystem (Endeavor Health), Evanston, IL.
S Lilly ZhengProgram for Genomic Translational Research, NorthShore University HealthSystem (Endeavor Health), Evanston, IL.
Brian T HelfandProgram for Genomic Translational Research, NorthShore University HealthSystem (Endeavor Health), Evanston, IL.
Henry M DunnenbergerNeaman Center for Personalized Medicine, Endeavor Health, Evanston, IL.
David DugganTranslational Genomics Research Institute, TGen-an Affiliate of City of Hope, Phoenix, AZ.
Peter J HulickNeaman Center for Personalized Medicine, Endeavor Health, Evanston, IL.ORCID 0000-0001-8397-4078
Allison DePersiaNeaman Center for Personalized Medicine, Endeavor Health, Evanston, IL.ORCID 0000-0001-8338-3112
Alan R SandersGenomic Health Initiative, Endeavor Health, Evanston, IL.ORCID 0000-0001-6629-4011
Jianfeng XuProgram for Genomic Translational Research, NorthShore University HealthSystem (Endeavor Health), Evanston, IL.ORCID 0000-0002-9419-6627

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeFamily history (FH) and pathogenic variants (PVs) in Lynch syndrome (LS) genes are established risk factors of colorectal cancer (CRC). This study evaluates whether newly published polygenic scores (PGSs) improve CRC prediction of known risk factors.

methodsThe associations of CRC risk with FH, PVs in LS genes (

resultsIn UKB, 18.99%, 11.43%, and 0.42% of participants were positive for PGS, FH, and PVs, respectively, with corresponding PAR% of 29.97%, 6.27%, and 1.25%. In multivariable analysis adjusting for age, sex, and genetic background, each genetic factor independently predicted CRC risk (

conclusionPGS complements FH and PVs of LS genes in predicting CRC risk and improves prediction performance beyond traditional genetic factors across diverse populations.

Indexed as

Colorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisMultifactorial InheritanceAdultAgedFemaleGenetic Predisposition to DiseaseHumansMaleMedical History TakingMiddle AgedRisk AssessmentRisk Factors

Identifiers

PMID40601893
PMCPMC12233176

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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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.