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

Sep 29, 2026

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Routine genetic testing for germline pathogenic variants in cancer susceptibility genes, followed by cascade testing, has increased the number of UK individuals identified as having elevated lifetime cancer risk. These individuals need ongoing clinical support for surveillance, discussion of risk-reducing interventions, family risk communication, and reproductive options. Regional genetics services differ in their pathways, so consensus guidelines were developed for recontact and follow-up for specific high-risk genes.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages7

Reading Time18 min

AccessFree to download

Abstract

Background

Methods

Results

Conclusion

Key message

Introduction

Position statement ► Additional supplemental material is published online only. To view, please visit the journal online ([https://doi.org/](https://doi.org/)[ ](https://doi.org/)[10.1136/jmg-2025-110979](10.1136/jmg-2025-110979)) . 1East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK 2Department of Genomic Medicine, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK 3St George’s University of London, London, UK 4All Wales Medical Genomics Service, Cardiff, UK 5Leeds Clinical Genomics Service, Leeds, UK 6Cancer Genetics Unit, Royal Marsden Hospital Sutton, Sutton, UK 7South West Thames Regional Genomics Service, London, UK 8Peninsula Regional Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK 9Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Exeter, UK Correspondence to Dr Helen Hanson; [h.hanson@exeter.ac.uk](h.hanson@exeter.ac.uk) Received 7 June 2025 Accepted 25 August 2025 © Author(s) (or their employer(s)) 2025. Re-use permitted under CC BY. Published by BMJ Group. To cite: Christopher J, Edgerley K, McIldowie B, et al. J Med Genet Epub ahead of print: [please include Day Month Year] . doi:10 . 1136/jmg-2025- 110979 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, 1,2 Katharine Edgerley,3 Beth McIldowie,4 Rosalyn Jewell ,5 Zoe Kemp ,6 Katie Snape,3,7 Helen Hanson ,8,9 Consensus meeting attendees AbSTrACT background Routine 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 BRCA1, BRCA2, PALB2, ATM, CHEK2, BARD1, BRIP1, RAD51C, RAD51D and mismatch repair (MMR) genes (MLH1, MSH2, MSH6 and PMS2) to ensure appropriate lifelong clinical management. Methods The 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. results We 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. Conclusion The consensus meeting broadly supported recontact and follow-up for most individuals with a GPVin 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. InTroduCTIon Cancer is unfortunately common, with one in two people in the UK diagnosed with cancer within their lifeti

FAQs

Why are recontact and follow-up needed after germline pathogenic variant results?

Routine testing and cascade testing have identified many individuals with increased lifetime cancer risk. Their clinical needs change over time for surveillance, risk-reducing options, family counselling, and reproductive discussions.

How was the UK Cancer Genetics Group consensus guidance developed?

A virtual consensus meeting was convened with key stakeholders. Consensus was reached using premeeting surveys, structured discussions, and in-meeting polling.

What areas did the consensus cover for best practice recontact?

The guidance addressed key time points for recontact, referral processes to specialist services and follow-up, the preferred recontact method, and the content of information provided during recontact.

Sep 29, 2026

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