Evidence map›Paper›PMID 38443545›Full record

GuidelineEuropean journal of human genetics : EJHG2024

EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.

Trudi McDevitt, Miranda Durkie, Norbert Arnold, George J Burghel, Samantha Butler, Kathleen B M Claes, Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme and 3 more

Erratum issuedOpen access · hybridAbstract readPractice Guideline
In one paragraph

Guideline in European journal of human genetics : EJHG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
8.3field-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

19 citing papers in PubMed, 15 citations in OpenAlex.

  1. Multidisciplinary management of advanced ovarian cancer in Spain: expert recommendations for achieving maximum survival and improving patient care.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026
    Review
  2. Review
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Pathologica · 2025
    Article
  11. Article
  12. Review
  13. Article
  14. Article
  15. Review
  16. Review
  17. Decoding the Epigenome of Breast Cancer.International journal of molecular sciences · 2025
    Review
  18. Looking back at 2024 in the European Journal of Human Genetics.European journal of human genetics : EJHG · 2025
    Article
  19. Novel insights into cancer predisposition genes.European journal of human genetics : EJHG · 2024
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

13 authors at 11 institutions in 5 countries.

Trudi McDevitt *Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland. trudi.mcdevitt@childrenshealthireland.ie.ORCID 0009-0008-2425-5194
Miranda Durkie *Sheffield Diagnostic Genetics Service, North East and Yorkshire Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust Western Bank, Sheffield, UK.ORCID 0000-0001-7071-7048
Norbert ArnoldUKSH Campus Kiel, Gynecology and Obstetrics, Institut of Clinical Chemistry, Institut of Clinical Molecular Biology, Kiel, Germany.
George J BurghelManchester University NHS Foundation Trust, North West Genomic Laboratory Hub, Manchester, UK.ORCID 0000-0001-9360-8194
Samantha ButlerCentral and South Genomic Laboratory Hub, West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Kathleen B M ClaesGhent University Hospital, Center for Medical Genetics, Gent, Belgium.ORCID 0000-0003-0841-7372
Peter LoganHSCNI / Belfast Trust Laboratories, Regional Molecular Diagnostics Service, Belfast, Northern Ireland.
Rachel RobinsonLeeds Teaching Hospitals NHS Trust, Genetics Department, Leeds, UK.
Katie SheilsEMQN, Manchester, UK.ORCID 0000-0002-1649-1495
Nicola WolstenholmeEMQN, Manchester, UK.
Helen HansonSt George's University Hospitals NHS Foundation Trust, Clinical Genetics, London, UK.ORCID 0000-0002-3303-8713
Clare TurnbullInstitute of Cancer Research, London, UK.
Stacey Hume *University of British Columbia, Pathology and Laboratory Medicine, Vancouver, British Columbia, Canada.ORCID 0000-0002-3217-3032
Emteq (United Kingdom) · GBBirmingham Women’s and Children’s NHS Foundation Trust · GBChildren's Health Ireland at Crumlin · IEGhent University Hospital · BEInstitute of Cancer Research · GBInstitute of Molecular Biology · DELeeds Teaching Hospitals NHS Trust · GBManchester University NHS Foundation Trust · GBSheffield Children's NHS Foundation Trust · GBSt George’s University Hospitals NHS Foundation Trust · GBUniversity of British Columbia · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary Breast and Ovarian Cancer (HBOC) is a genetic condition associated with increased risk of cancers. The past decade has brought about significant changes to hereditary breast and ovarian cancer (HBOC) diagnostic testing with new treatments, testing methods and strategies, and evolving information on genetic associations. These best practice guidelines have been produced to assist clinical laboratories in effectively addressing the complexities of HBOC testing, while taking into account advancements since the last guidelines were published in 2007. These guidelines summarise cancer risk data from recent studies for the most commonly tested high and moderate risk HBOC genes for laboratories to refer to as a guide. Furthermore, recommendations are provided for somatic and germline testing services with regards to clinical referral, laboratory analyses, variant interpretation, and reporting. The guidelines present recommendations where 'must' is assigned to advocate that the recommendation is essential; and 'should' is assigned to advocate that the recommendation is highly advised but may not be universally applicable. Recommendations are presented in the form of shaded italicised statements throughout the document, and in the form of a table in supplementary materials (Table S4). Finally, for the purposes of encouraging standardisation and aiding implementation of recommendations, example report wording covering the essential points to be included is provided for the most common HBOC referral and reporting scenarios. These guidelines are aimed primarily at genomic scientists working in diagnostic testing laboratories.

Indexed as

Genetic TestingOvarian NeoplasmsBreast NeoplasmsFemaleGenetic Predisposition to DiseaseHereditary Breast and Ovarian Cancer SyndromeHumans

Identifiers

PMID38443545
PMCPMC11061103
OpenAlexW4392465043

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.