Evidence map›Paper›PMID 41159931›Full record

ArticleJournal of medical genetics2025

Recontact and follow-up for individuals with germline pathogenic variants in hereditary breast and ovarian cancer susceptibility genes: a UK Cancer Genetics Group consensus meeting.

Joseph Christopher, Katharine Edgerley, Beth McIldowie, Rosalyn Jewell, Zoe Kemp, Katie Snape, Helen Hanson, Consensus meeting attendees

Abstract read
In one paragraph

Article in Journal of medical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Article
  3. 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

8 authors.

Joseph ChristopherEast Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Katharine EdgerleySt George's University of London, London, England, UK.
Beth McIldowieAll Wales Medical Genomics Service, Cardiff, UK.
Rosalyn JewellLeeds Clinical Genomics Service, Leeds, UK.ORCID http://orcid.org/0000-0002-9909-7142
Zoe KempCancer Genetics Unit, Royal Marsden Hospital Sutton, Sutton, UK.ORCID http://orcid.org/0000-0003-2692-0369
Katie SnapeSt George's University of London, London, England, UK.
Helen HansonPeninsula Regional Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK h.hanson@exeter.ac.uk.ORCID http://orcid.org/0000-0002-3303-8713
Consensus meeting attendees

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundRoutine genetic testing for germline pathogenic variants (GPVs) in cancer susceptibility genes (CSGs) in individuals with suspected hereditary cancer risk, and subsequent cascade testing in close relatives, has led to a significantly increased number of individuals identified to be at increased lifetime cancer risk in the UK. These individuals have differing clinical needs over their lifetime to implement cancer surveillance and discuss risk-reducing interventions, to advise on risk to close relatives and counsel on reproductive options. Regional clinical genetics services across the UK have implemented a range of clinical pathways to manage this patient cohort, with differences in practice across centres. Our aim was to provide consensus guidelines on best practice for recontact and follow-up for individuals with GPVs in

methodsThe UK Cancer Genetics Group convened a virtual consensus meeting involving key stakeholders. Consensus for best practice guidance was achieved through premeeting surveys, structured discussions and in-meeting polling.

resultsWe identified variability in the extent of active recontact and follow-up for individuals with a GPV in CSGs across the UK. The availability of resources was a key determinant of the level of follow-up currently provided. We achieved consensus on best practice guidelines on key time points for recontact for those with a GPV in a CSG, processes for referral to specialist services and follow-up, the preferred method for recontact and the content of information given during recontact.

conclusionThe consensus meeting broadly supported recontact and follow-up for most individuals with a GPV in a CSG. The consensus achieved by the multidisciplinary and expert group of healthcare professionals gives clear guidance on the long-term management of this patient cohort at increased lifetime risk of cancer and highlights the additional resources that would be required to effectively deliver this.

Indexed as

Genetic CounselingGenetic Predisposition to DiseaseGenetic TestingNeoplasmsPatient Care

Identifiers

PMID41159931
PMCPMC12772612

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Registered trials

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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.