Evidence map›Paper›PMID 33499123›Full record

ReviewCancers2021

How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies.

Richard Gallon, Peter Gawthorpe, Rachel L Phelps, Christine Hayes, Gillian M Borthwick, Mauro Santibanez-Koref, Michael S Jackson, John Burn

Open access · goldAbstract readReview
In one paragraph

Review in Cancers, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed, 2 pooled it
7.1field-weighted citation impact, top 2% 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

33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 56 citations in OpenAlex.

  1. Guideline
  2. Pooled it
  3. Review
  4. The Tyrolean FounderBiomolecules · 2026
    Article
  5. Review
  6. Article
  7. Review
  8. Lynch syndrome withOpen life sciences · 2026
    Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Review
  20. International journal of molecular sciences · 2023
    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

8 authors at 1 institution in 1 country.

Richard GallonFaculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.ORCID 0000-0002-5395-0099
Peter GawthorpeFaculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
Rachel L PhelpsFaculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
Christine HayesFaculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
Gillian M BorthwickFaculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
Mauro Santibanez-KorefFaculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
Michael S JacksonFaculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
John BurnFaculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.ORCID 0000-0002-9823-2322
Newcastle University · GB

Funding

Cancer Research UK 15934Cancer Research UK C569/A24991Medical Research Council G0100496
6 · The paper itself

Abstract

International guidelines for the diagnosis of Lynch syndrome (LS) recommend molecular screening of colorectal cancers (CRCs) to identify patients for germline mismatch repair (MMR) gene testing. As our understanding of the LS phenotype and diagnostic technologies have advanced, there is a need to review these guidelines and new screening opportunities. We discuss the barriers to implementation of current guidelines, as well as guideline limitations, and highlight new technologies and knowledge that may address these. We also discuss alternative screening strategies to increase the rate of LS diagnoses. In particular, the focus of current guidance on CRCs means that approximately half of Lynch-spectrum tumours occurring in unknown male LS carriers, and only one-third in female LS carriers, will trigger testing for LS. There is increasing pressure to expand guidelines to include molecular screening of endometrial cancers, the most frequent cancer in female LS carriers. Furthermore, we collate the evidence to support MMR deficiency testing of other Lynch-spectrum tumours to screen for LS. However, a reliance on tumour tissue limits preoperative testing and, therefore, diagnosis prior to malignancy. The recent successes of functional assays to detect microsatellite instability or MMR deficiency in non-neoplastic tissues suggest that future diagnostic pipelines could become independent of tumour tissue.

Indexed as

Lynch syndromemismatch repair deficiencyscreening

Identifiers

PMID33499123
PMCPMC7865939
OpenAlexW3125806809

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.