Evidence map›Paper›PMID 29661970›Full record

ArticleJournal of medical genetics2018

Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group.

Amy Taylor, Angela F Brady, Ian M Frayling, Helen Hanson, Marc Tischkowitz, Clare Turnbull, Lucy Side, UK Cancer Genetics Group (UK-CGG)

Open access · hybridAbstract read
In one paragraph

Article in Journal of medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
49citing papers in PubMed, 3 pooled it
10.1field-weighted citation impact, top 1% 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

49 citing papers in PubMed, 3 syntheses or guidelines pooled it, 101 citations in OpenAlex.

  1. Guideline
  2. Summary ofGenes · 2020
    Pooled it
  3. Guideline
  4. Review
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Review
  11. Review
  12. Article
  13. Article
  14. Article
  15. Is Reflex GermlineCancers · 2023
    Article
  16. Review
  17. Article
  18. Germline variant testing in serrated polyposis syndrome.Journal of gastroenterology and hepatology · 2022
    Article
  19. Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.European journal of human genetics : EJHG · 2022
    Review
  20. 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 7 institutions in 1 country.

Amy TaylorEast Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.ORCID 0000-0001-9811-330X
Angela F BradyNorth West Thames Regional Genetics Service, Northwick Park and St Mark's Hospitals, Harrow, UK.
Ian M FraylingAll Wales Medical Genetics Service, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
Helen HansonSouth West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.
Marc TischkowitzEast Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Clare TurnbullDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Lucy SideWessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
UK Cancer Genetics Group (UK-CGG)
Cambridge University Hospitals NHS Foundation Trust · GBInstitute of Cancer Research · GBPrincess Anne Hospital · GBSt George’s University Hospitals NHS Foundation Trust · GBSt Mark's Hospital · GBUniversity Hospital of Wales · GBUniversity of Cambridge · GB

Funding

Medical Research Council G0700491
6 · The paper itself

Abstract

Genetic testing for hereditary cancer predisposition has evolved rapidly in recent years with the discovery of new genes, but there is much debate over the clinical utility of testing genes for which there are currently limited data regarding the degree of associated cancer risk. To address the discrepancies that have arisen in the provision of these tests across the UK, the UK Cancer Genetics Group facilitated a 1-day workshop with representation from the majority of National Health Service (NHS) clinical genetics services. Using a preworkshop survey followed by focused discussion of genes without prior majority agreement for inclusion, we achieved consensus for panels of cancer genes with sufficient evidence for clinical utility, to be adopted by all NHS genetics services. To support consistency in the delivery of these tests and advice given to families across the country, we also developed management proposals for individuals who are found to have pathogenic mutations in these genes. However, we fully acknowledge that the decision regarding what test is most appropriate for an individual family rests with the clinician, and will depend on factors including specific phenotypic features and the family structure.

Indexed as

Genetic Predisposition to DiseaseGuidelines as TopicGenetic CounselingGenetic TestingHumansMutationNeoplasmsUnited Kingdomcancer: breastcancer: colonclinical geneticsdiagnostics testsgenetic screening/counselling

Identifiers

PMID29661970
PMCPMC5992364
OpenAlexW2802834623

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.