Evidence map›Paper›PMID 39433398›Full record

Observational studyJournal of medical genetics2024

Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study.

Lucy Loong, Catherine Huntley, Joanna Pethick, Fiona McRonald, Francesco Santaniello, Brian Shand, Oliver Tulloch, Shilpi Goel, Margreet Lüchtenborg, Sophie Allen and 15 more

Abstract readObservational Study
In one paragraph

Observational study in Journal of medical genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
  4. Article
  5. Review
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

25 authors.

Lucy Loong *Institute of Cancer Research Division of Genetics and Epidemiology, Sutton, UK.
Catherine Huntley *Institute of Cancer Research Division of Genetics and Epidemiology, Sutton, UK.
Joanna PethickNational Disease Registration Service, London, UK.
Fiona McRonaldNational Disease Registration Service, London, UK.
Francesco SantanielloNational Disease Registration Service, London, UK.
Brian ShandNational Disease Registration Service, London, UK.
Oliver TullochNational Disease Registration Service, London, UK.
Shilpi GoelNational Disease Registration Service, London, UK.
Margreet LüchtenborgNational Disease Registration Service, London, UK.
Sophie AllenInstitute of Cancer Research Division of Genetics and Epidemiology, Sutton, UK.ORCID 0000-0003-4928-2240
Bethany TorrInstitute of Cancer Research Division of Genetics and Epidemiology, Sutton, UK.ORCID 0000-0003-3487-9749
Katie SnapeDepartment of Clinical Genetics, St George's University Hospitals NHS Foundation Trust, London, UK.ORCID 0000-0002-1739-7986
Angela GeorgeGynaecology Unit, Royal Marsden NHS Foundation Trust, London, UK.
Fiona LallooClinical Genetics Service, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Gail NorburySouth East Genomic Laboratory Hub, Guy's and St Thomas' Hospitals NHS Trust, London, UK.
Diana M EcclesHuman Genetics and Genomic Medicine, University of Southampton Faculty of Medicine, Southampton, UK.ORCID 0000-0002-9935-3169
Marc TischkowitzDepartment of Medical Genetics, Cambridge Biomedical Research Centre, National Institute for Health Research, University of Cambridge, Cambridge, UK.
Antonis C AntoniouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0001-9223-3116
Paul PharoahDepartment of Computational Biomedicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Adam ShawDepartment of Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.ORCID 0000-0003-3046-3092
Eva MorrisApplied Health Research Unit, Big Data Institute, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
John BurnTranslational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Kevin MonahanThe Lynch Syndrome and Family Cancer Clinic, St Mark's Hospital and Academic Institute, London, UK.
Steven HardyNational Disease Registration Service, London, UK.
Clare TurnbullInstitute of Cancer Research Division of Genetics and Epidemiology, Sutton, UK turnbull.lab@icr.ac.uk.ORCID 0000-0002-3797-7398

Funding

Cancer Research UK C8620/A8372Wellcome Trust
6 · The paper itself

Abstract

backgroundFor female patients with Lynch syndrome (LS), endometrial cancer (EC) is often their first cancer diagnosis. A testing pathway of somatic tumour testing triage followed by germline mismatch repair (MMR) gene testing is an effective way of identifying the estimated 3% of EC caused by LS.

methodsA retrospective national population-based observational study was conducted using comprehensive national data collections of functional, somatic and germline MMR tests available via the English National Cancer Registration Dataset. For all EC diagnosed in 2019, the proportion tested, median time to test, yield of abnormal results and factors influencing testing pathway initiation were examined.

resultsThere was an immunohistochemistry (IHC) or microsatellite instability (MSI) test recorded for 17.8% (1408/7928) of patients diagnosed with EC in 2019. Proportions tested varied by Cancer Alliance and age. There was an

conclusionThis analysis highlights the regional variation in recorded testing, patient attrition, delays and missed opportunities to diagnose LS, providing an informative baseline for measuring the impact of the national guidance from the National Institute for Health and Care Excellence on universal reflex LS testing in EC, implemented in 2020.

Indexed as

Colorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairEndometrial NeoplasmsGenetic TestingMicrosatellite InstabilityRegistriesAdultAgedAged, 80 and overDNA MethylationFemaleGerm-Line MutationHumansImmunohistochemistryMiddle AgedMutL Protein Homolog 1MLH1 protein, humanMutL Protein Homolog 1databases, geneticgenetic predisposition to diseasegenetic testinggynecologyhealth services research

Identifiers

PMID39433398
PMCPMC11671912

What OpenQuestion holds

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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 OpenQuestion graph.