Evidence map›Paper›PMID 40214032›Full record

Observational studyThe New England journal of medicine2025

Assessment of a Polygenic Risk Score in Screening for Prostate Cancer.

Jana K McHugh, Elizabeth K Bancroft, Edward Saunders, Mark N Brook, Eva McGrowder, Sarah Wakerell, Denzil James, Reshma Rageevakumar, Barbara Benton, Natalie Taylor and 40 more

Registry-linked trialAbstract readObservational Study
In one paragraph

Observational study in The New England journal of medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03857477 (The BARCODE 1 Study), which is not on this map. Cited by 66 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
66citing 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.

NCT03857477 active not recruitingnot on this map

The BARCODE 1 Study: The Use of Genetic Profiling to Guide Prostate Cancer Targeted Screening.

TypeobservationalSponsorInstitute of Cancer Research, United KingdomRan2019 to 2028Enrolled4,700ConditionsProstate CancerArmsGenetic SNP profiling, Prostate cancer screening, MRI Scan, Prostate biopsy
3 · Its place in the literature

Who cites it

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

  1. Pooled it
  2. Trial
  3. Trial
  4. Observational
  5. Article
  6. Article
  7. Review
  8. Article
  9. [Current status of prostate cancer screening research].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2026
    Review
  10. Review
  11. Article
  12. Genetic basis of Asian diabetes.Journal of diabetes investigation · 2026
    Review
  13. Article
  14. Article
  15. Article
  16. Article
  17. Review
  18. An introduction to polygenic scores - methodological basics and recent advances.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026
    Article
  19. Article
  20. Polygenic risk scores in cancer.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026
    Article

6 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

50 authors.

Jana K McHughInstitute of Cancer Research, London.
Elizabeth K BancroftInstitute of Cancer Research, London.
Edward SaundersInstitute of Cancer Research, London.
Mark N BrookInstitute of Cancer Research, London.
Eva McGrowderInstitute of Cancer Research, London.
Sarah WakerellInstitute of Cancer Research, London.
Denzil JamesInstitute of Cancer Research, London.
Reshma RageevakumarInstitute of Cancer Research, London.
Barbara BentonInstitute of Cancer Research, London.
Natalie TaylorInstitute of Cancer Research, London.
Kathryn MyhillInstitute of Cancer Research, London.
Matthew HogbenInstitute of Cancer Research, London.
Netty KinsellaRoyal Marsden NHS Foundation Trust, London.
Aslam A SohaibRoyal Marsden NHS Foundation Trust, London.
Declan CahillRoyal Marsden NHS Foundation Trust, London.
Stephen HazellRoyal Marsden NHS Foundation Trust, London.
Samuel J WitheyRoyal Marsden NHS Foundation Trust, London.
Naami McaddyRoyal Marsden NHS Foundation Trust, London.
Elizabeth C PageInstitute of Cancer Research, London.
Andrea OsborneInstitute of Cancer Research, London.
Sarah BenafifInstitute of Cancer Research, London.
Ann-Britt JonesInstitute of Cancer Research, London.
Dhruv PatelInHealth Limited, InHealth Group HQ, High Wycombe, United Kingdom.
Dean Y HuangInHealth Limited, InHealth Group HQ, High Wycombe, United Kingdom.ORCID 0000-0002-5637-6723
Kaljit KaurRoyal Marsden NHS Foundation Trust, London.
Bradley RussellRoyal Marsden NHS Foundation Trust, London.
Ray NicholsonRoyal Marsden NHS Foundation Trust, London.
Fionnuala CroftRoyal Marsden NHS Foundation Trust, London.
Justyna SobczakRoyal Marsden NHS Foundation Trust, London.
Claire McNallyRoyal Marsden NHS Foundation Trust, London.
Fiona MutchRoyal Marsden NHS Foundation Trust, London.
Samantha BennettRoyal Marsden NHS Foundation Trust, London.
Lenita KingstonRoyal Marsden NHS Foundation Trust, London.
Questa KarlssonInstitute of Cancer Research, London.
Tokhir DadaevInstitute of Cancer Research, London.
Sibel SayaInstitute of Cancer Research, London.
Susan MersonInstitute of Cancer Research, London.
Angela WoodInstitute of Cancer Research, London.
Nening DennisInstitute of Cancer Research, London.
Nafisa HussainInstitute of Cancer Research, London.
Alison ThwaitesInstitute of Cancer Research, London.
Syed HussainInstitute of Cancer Research, London.
Imran RafiSt. George's University of London, London.
Michelle FerrisLane End Medical Group, London.
Pardeep KumarRoyal Marsden NHS Foundation Trust, London.
Nicholas D JamesInstitute of Cancer Research, London.
Nora PashayanUniversity of Cambridge, Cambridge, United Kingdom.
Zsofia Kote-JaraiInstitute of Cancer Research, London.
Rosalind A EelesInstitute of Cancer Research, London.
BARCODE1 Steering Committee and Collaborators

Funding

Cancer Research UK EDDCPJT\100006European Research Council 339208European Research Council ERC-2013-AdG-339208
6 · The paper itself

Abstract

backgroundThe incidence of prostate cancer is increasing. Screening with an assay of prostate-specific antigen (PSA) has a high rate for false positive results. Genomewide association studies have identified common germline variants in persons with prostate cancer, which can be used to calculate a polygenic risk score associated with risk of prostate cancer.

methodsWe recruited persons 55 to 69 years of age from primary care centers in the United Kingdom. Using germline DNA extracted from saliva, we derived polygenic risk scores from 130 variants known to be associated with an increased risk of prostate cancer. Participants with a polygenic risk score in the 90th percentile or higher were invited to undergo prostate cancer screening with multiparametric magnetic resonance imaging (MRI) and transperineal biopsy, irrespective of PSA level.

resultsAmong 40,292 persons invited to participate, 8953 (22.2%) expressed interest in participating and 6393 had their polygenic risk score calculated; 745 (11.7%) had a polygenic risk score in the 90th percentile or higher and were invited to undergo screening. Of these 745 participants, 468 (62.8%) underwent MRI and prostate biopsy; prostate cancer was detected in 187 participants (40.0%). The median age at diagnosis was 64 years (range, 57 to 73). Of the 187 participants with cancer, 103 (55.1%) had prostate cancer classified as intermediate or higher risk according to the 2024 National Comprehensive Cancer Network (NCCN) criteria, so treatment was indicated; cancer would not have been detected in 74 (71.8%) of these participants according to the prostate cancer diagnostic pathway currently used in the United Kingdom (high PSA level and positive MRI results). In addition, 40 of the participants with cancer (21.4%) had disease classified as unfavorable intermediate risk or as high or very high risk according to NCCN criteria.

conclusionsIn a prostate cancer screening program involving participants in the top decile of risk as determined by a polygenic risk score, the percentage found to have clinically significant disease was higher than the percentage that would have been identified with the use of PSA or MRI. (Funded by the European Research Council Seventh Framework Program and others; BARCODE1 ClinicalTrials.gov number, NCT03857477.).

Indexed as

Early Detection of CancerGenetic Risk ScoreMultifactorial InheritanceProstatic NeoplasmsAgedBiopsyCase-Control StudiesGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedMultiparametric Magnetic Resonance ImagingProspective StudiesProstateProstate-Specific AntigenProstate-Specific Antigen

Identifiers

PMID40214032
PMCPMC7617604

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Registered trials

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 OpenQuestion graph.