Evidence map›Paper›PMID 35128723›Full record

ArticleJournal of gastroenterology and hepatology2022

Germline variant testing in serrated polyposis syndrome.

Aisling Murphy, Joyce Solomons, Peter Risby, Jessica Gabriel, Tina Bedenham, Michael Johnson, Nathan Atkinson, Adam A Bailey, Elizabeth Bird-Lieberman, Simon J Leedham and 2 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of gastroenterology and hepatology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.8field-weighted citation impact, top 16% of its field
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

8 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
  2. Adenomatous Polyposis Coli Gene Polyposis-Related Syndromes.The American journal of gastroenterology · 2026
    Review
  3. Review
  4. Review
  5. Review
  6. Review
  7. Unraveling the impact of a germline heterozygousFrontiers in molecular biosciences · 2023
    Article
  8. Germline variant testing in serrated polyposis syndrome.Journal of gastroenterology and hepatology · 2022
    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

12 authors at 6 institutions in 2 countries.

Aisling MurphyTranslational Gastroenterology Unit, Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK.
Joyce SolomonsOxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Peter RisbyOxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Jessica GabrielOxford Regional Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Tina BedenhamOxford Regional Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Michael JohnsonTranslational Gastroenterology Unit, Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK.
Nathan AtkinsonNew Zealand Familial Gastrointestinal Cancer Registry, Auckland City Hospital, Auckland, New Zealand.
Adam A BaileyTranslational Gastroenterology Unit, Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK.ORCID https://orcid.org/0000-0002-8371-2147
Elizabeth Bird-LiebermanTranslational Gastroenterology Unit, Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK.
Simon J LeedhamTranslational Gastroenterology Unit, Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK.
James E EastTranslational Gastroenterology Unit, Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK.
Sujata BiswasTranslational Gastroenterology Unit, Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK.ORCID https://orcid.org/0000-0002-0700-7286
University of Oxford · GBChurchill Hospital · GBNuffield Orthopaedic Centre · GBAuckland City Hospital · NZBuckinghamshire Healthcare NHS Trust · GBCentre for Human Genetics · GB

Funding

National Institute for Health ResearchWellcome TrustWellcome Trust 206314/Z/17/Z
6 · The paper itself

Abstract

BACKGROUND AND

aimSerrated polyposis syndrome (SPS) is now known to be the commonest polyposis syndrome. Previous analyses for germline variants have shown no consistent positive findings. To exclude other polyposis syndromes, 2019 British Society of Gastroenterology (BSG) guidelines advise gene panel testing if the patient is under 50 years, there are multiple affected individuals within a family, or there is dysplasia within any of the polyps.

methodsA database of SPS patients was established at the Oxford University Hospitals NHS Foundation Trust. Patients were referred for genetic assessment based on personal and family history and patient preference. The majority were tested for a hereditary colorectal cancer panel including MUTYH, APC, PTEN, SMAD4, BMPR1A, STK11, NTLH1, POLD1, POLE, GREM1 (40-kb duplication), PMS2, and Lynch syndrome mismatch repair genes.

resultsOne hundred and seventy-three patients were diagnosed with SPS based on World Health Organization 2019 criteria between February 2010 and December 2020. The mean age of diagnosis was 54.2 ± 16.8 years. Seventy-three patients underwent genetic testing and 15/73 (20.5%) were found to have germline variants, of which 7/73 (9.6%) had a pathogenic variant (MUTYH n = 2, SMAD4 n = 1, CHEK2 n = 2, POLD1 n = 1, and RNF43 n = 1). Only 60% (9/15) of these patients would have been recommended for gene panel testing according to current BSG guidelines.

conclusionsA total of 20.5% of SPS patients tested were affected by heterozygous germline variants, including previously unreported associations with CHEK2 and POLD1. This led to a change in management in seven patients (9.6%). Current recommendations may miss SPS associated with germline variants, which is more common than previously anticipated.

Indexed as

Adenomatous Polyposis ColiColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisAdultAgedGenetic TestingGerm CellsGerm-Line MutationHumansMiddle AgedSyndromecolongeneticspolyposis

Identifiers

PMID35128723
PMCPMC9305167
OpenAlexW4210722149

What OpenQuestion 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 OpenQuestion graph.