Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network

Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network | medRxiv Skip to main content Home About Submit ALERTS / RSS Search for this keyword Advanced Search Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network Alice Garrett , Sophie Allen , Charlie F Rowlands , Subin Choi , Miranda Durkie , George J Burghel , Rachel Robinson , Alison Callaway , Joanne Field , Bethan Frugtniet , Sheila Palmer-Smith , Jonathan Grant , Judith Pagan , Trudi McDevitt , Lowri Hughes , Elizabeth Johnston , Laura Yarram-Smith , Peter Logan , Laura Reed , Katie Snape , Helen Hanson , Terri McVeigh , Clare Turnbull , CanVIG-UK doi: https://doi.org/10.64898/2026.03.17.26348157 Alice Garrett 1 Division of Genetics and Epidemiology, The Institute of Cancer Research , London, UK 2 St George’s University Hospitals NHS Foundation Trust , Tooting, London, UK Find this author on Google Scholar Find this author on PubMed Search for this author on this site For correspondence: alice.garrett{at}icr.ac.uk Sophie Allen 1 Division of Genetics and Epidemiology, The Institute of Cancer Research , London, UK Find this author on Google Scholar Find this author on PubMed Search for this author on this site Charlie F Rowlands 1 Division of Genetics and Epidemiology, The Institute of Cancer Research , London, UK Find this author on Google Scholar Find this author on PubMed Search for this author on this site Subin Choi 1 Division of Genetics and Epidemiology, The Institute of Cancer Research , London, UK Find this author on Google Scholar Find this author on PubMed Search for this author on this site Miranda Durkie 3 North East and Yorkshire Genomic Laboratory Hub, Sheffield Children’s NHS Foundation Trust , Sheffield, UK Find this author on Google Scholar Find this author on PubMed Search for this author on this site George J Burghel 4 Division of Cancer Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester , Manchester, UK 5 Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University Hospitals NHS Foundation Trust , Manchester, UK Find this author on Google Scholar Find this author on PubMed Search for this author on this site Rachel Robinson 6 The Leeds Genetics Laboratory, NEY Genomic Laboratory Hub, Leeds Teaching Hospitals NHS Trust , Leeds, UK Find this author on Google Scholar Find this author on PubMed Search for this author on this site Alison Callaway 7 Central and South Genomics Laboratory Hub, Wessex Genomics Laboratory Service, University Hospital Southampton NHS Foundation Trust , Salisbury, UK Find this author on Google Scholar Find this author on PubMed Search for this author on this site Joanne Field 8 Genomics and Molecular Medicine Service, Nottingham University Hospitals NHS Trust , Nottingham, UK Find this author on Google Scholar Find this author on PubMed Search for this author on this site Bethan Frugtniet 2 St George’s University Hospitals NHS Foundation Trust , Tooting, London, UK Find this author on Google Scholar Find this author on PubMed Search for this author on this site Sheila Palmer-Smith 9 Wales Genomic Health Centre, Cardiff and Vale University Health Board , Cardiff, UK Find this author on Google Scholar Find this author on PubMed Search for this author on this site Jonathan Grant 10 Laboratory Genetics, Queen Elizabeth University Hospital, NHS Greater Glasgow and Clyde , Glasgow, UK Find this author on Google Scholar Find this author on PubMed Search for this author on this site Judith Pagan 11 South East Scotland Clinical Genetics, Western General Hospital , Edinburgh, UK Find this author on Google Scholar Find this author on PubMed Search for this author on this site Trudi McDevitt 12 Department of Clinical Genetics, CHI at Crumlin , Dublin, Ireland Find this author on Google Scholar Find this author on PubMed Search for this author on this site Lowri Hughes 13 West Midlands Genomics Laboratory, Birmingham Women’s and Children’s NHS Foundation Trust , Birmingham, UK Find this author on Google Scholar Find this author on PubMed Search for this author on this site Elizabeth Johnston 8 Genomics and Molecular Medicine Service, Nottingham University Hospitals NHS Trust , Nottingham, UK Find this author on Google Scholar Find this author on PubMed Search for this author on this site Laura Yarram-Smith 14 North Bristol NHS Trust, Southmead Hospital , Bristol, UK Find this author on Google Scholar Find this author on PubMed Search for this author on this site Peter Logan 15 Belfast Health and Social Care Trust, Royal Victoria Hospital , Belfast, UK Find this author on Google Scholar Find this author on PubMed Search for this author on this site Laura Reed 16 Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust , London, UK Find this author on Google Scholar Find this author on PubMed Search for this author on this site Katie Snape 2 St George’s University Hospitals NHS Foundation Trust , Tooting, London, UK Find this author on Google Scholar Find this author on PubMed Search for this author on this site Helen Hanson 17 Peninsula Regional Genetics Service, Royal Devon University Healthcare NHS Foundation Trust , Exeter, UK 18 Department of Clinical and Biomedical Sciences, University of Exeter Medical School , Exeter, United Kingdom Find this author on Google Scholar Find this author on PubMed Search for this author on this site Terri McVeigh 19 The Royal Marsden NHS Foundation Trust , Fulham Road, London Find this author on Google Scholar Find this author on PubMed Search for this author on this site Clare Turnbull 1 Division of Genetics and Epidemiology, The Institute of Cancer Research , London, UK 19 The Royal Marsden NHS Foundation Trust , Fulham Road, London Find this author on Google Scholar Find this author on PubMed Search for this author on this site Abstract Full Text Info/History Metrics Supplementary material Data/Code Preview PDF Abstract Cancer Variant Interpretation Group UK was established in 2017 in response to the publication of the 2015 ACMG/AMP v3 guidance for the interpretation of sequence variants. Its initial purpose was to ensure consistency in the UK clinical-laboratory community implementation of ACMG/AMP v3 guidance for cancer susceptibility genes (CSGs). Still convening for monthly national meetings, the remit of CanVIG-UK now encompasses additional activities delivered under the following objectives: Creation of a national multidisciplinary professional network and regular forum. Delivery of training and education. Establishment of a consensus approach to the fundamentals of variant interpretation in cancer susceptibility genes. Development and ratification of gene-specific frameworks for variant interpretation for cancer susceptibility genes. Development and maintenance of an online platform to facilitate information sharing and variant interpretation within the UK clinical-laboratory community. Facilitation of UK contribution to international variant interpretation endeavours. A survey of CanVIG-UK members evaluating the impact of these activities conducted in November 2025 had 163 responses, including 113 clinical scientists/trainees and 27 Clinical Genetics consultants/trainees. The utility of the CanVIG-UK consensus recommendations for variant interpretation in cancer susceptibility genes was highly rated, with 89/145=61.4% of survey respondents reporting using the guidance at least weekly (≥4 times/month) and 124/128=96.9% rating it as extremely/very useful. The usage frequency and utility of the gene-specific guidance reported by survey respondents were similar to those reported for the main consensus specification. Both qualitative and quantitative survey responses clearly demonstrate the value of the CanVIG-UK activities to the clinical-diagnostic community. Key messages What is already known on this topic: Cancer Variant Interpretation Group UK (CanVIG-UK) is a national subspeciality multidisciplinary network first established in 2017. It brings together members of the UK clinical-laboratory community to improve accuracy and consistency in the interpretation of variants in cancer susceptibility genes (CSG) What this study adds: this article presents the results of a survey of CanVIG-UK members, demonstrating the impact of CanVIG-UK activities on their services, as well as a review of progress in the six updated objectives of CanVIG-UK How this study might affect research, practice or policy: this article presents current priorities and practices and potential future directions for variant interpretation in CSGs across the UK and Republic of Ireland Competing Interest Statement AG has previously received honoraria for educational webinars from AstraZeneca and Diaceutics. MD has previously received honoraria for educational webinars from AstraZeneca. GB has received honoraria for educational webinars for AstraZeneca and Menarini and has provided consultancy for Bionl.ai. Funding Statement SA and CR are funded by CG MAVE (CRUK Programme Award [EDDPGM-Nov22/100004]). AG receives funding from NHS England. HH is supported by the National Institute for Health and Care Research Exeter Biomedical Research Centre (NIHR203320). CanVIG-UK activities 2019-2025 were funded by the CRUK Catalyst Award CanGene-CanVar (C61296/A27223) 2019-2024 Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes The details of the IRB/oversight body that provided approval or exemption for the research described are given below: I confirm all relevant ethical guidelines have been followed. This work did not require IRB or ethics committee approvals. Survey participation was voluntary and informed consent was implied by participation. All participants were members of the CanVIG-UK group, under the remit of the CRUK Catalyst Award CanGene-CanVar [C61296/A27223]. I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable. Yes Data Availability All data produced in the present work are contained in the manuscript Copyright The copyright holder for this preprint is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC 4.0 International license . Back to top Previous Next Posted March 19, 2026. Download PDF Supplementary Material Data/Code Email Thank you for your interest in spreading the word about medRxiv. NOTE: Your email address is requested solely to identify you as the sender of this article. Your Email * Your Name * Send To * Enter multiple addresses on separate lines or separate them with commas. You are going to email the following Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network Message Subject (Your Name) has forwarded a page to you from medRxiv Message Body (Your Name) thought you would like to see this page from the medRxiv website. Your Personal Message CAPTCHA This question is for testing whether or not you are a human visitor and to prevent automated spam submissions. Share Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network Alice Garrett , Sophie Allen , Charlie F Rowlands , Subin Choi , Miranda Durkie , George J Burghel , Rachel Robinson , Alison Callaway , Joanne Field , Bethan Frugtniet , Sheila Palmer-Smith , Jonathan Grant , Judith Pagan , Trudi McDevitt , Lowri Hughes , Elizabeth Johnston , Laura Yarram-Smith , Peter Logan , Laura Reed , Katie Snape , Helen Hanson , Terri McVeigh , Clare Turnbull , CanVIG-UK medRxiv 2026.03.17.26348157; doi: https://doi.org/10.64898/2026.03.17.26348157 Share This Article: Copy Citation Tools Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network Alice Garrett , Sophie Allen , Charlie F Rowlands , Subin Choi , Miranda Durkie , George J Burghel , Rachel Robinson , Alison Callaway , Joanne Field , Bethan Frugtniet , Sheila Palmer-Smith , Jonathan Grant , Judith Pagan , Trudi McDevitt , Lowri Hughes , Elizabeth Johnston , Laura Yarram-Smith , Peter Logan , Laura Reed , Katie Snape , Helen Hanson , Terri McVeigh , Clare Turnbull , CanVIG-UK medRxiv 2026.03.17.26348157; doi: https://doi.org/10.64898/2026.03.17.26348157 Citation Manager Formats BibTeX Bookends EasyBib EndNote (tagged) EndNote 8 (xml) Medlars Mendeley Papers RefWorks Tagged Ref Manager RIS Zotero Tweet Widget Facebook Like Google Plus One Subject Area Genetic and Genomic Medicine Subject Areas All Articles Addiction Medicine (638) Allergy and Immunology (917) Anesthesia (349) Cardiovascular Medicine (4985) Dentistry and Oral Medicine (493) Dermatology (426) Emergency Medicine (675) Endocrinology (including Diabetes Mellitus and Metabolic Disease) (1688) Epidemiology (16236) Forensic Medicine (36) Gastroenterology (1240) Genetic and Genomic Medicine (7264) Geriatric Medicine (751) Health Economics (1093) Health Informatics (5276) Health Policy (1464) Health Systems and Quality Improvement (1829) Hematology (599) HIV/AIDS (1379) Infectious Diseases (except HIV/AIDS) (16475) Intensive Care and Critical Care Medicine (1200) Medical Education (698) Medical Ethics (156) Nephrology (749) Neurology (7571) Nursing (377) Nutrition (1124) Obstetrics and Gynecology (1295) Occupational and Environmental Health (1038) Oncology (3739) Ophthalmology (1090) Orthopedics (407) Otolaryngology (465) Pain Medicine (499) Palliative Medicine (143) Pathology (720) Pediatrics (1854) Pharmacology and Therapeutics (754) Primary Care Research (785) Psychiatry and Clinical Psychology (6113) Public and Global Health (9971) Radiology and Imaging (2522) Rehabilitation Medicine and Physical Therapy (1511) Respiratory Medicine (1268) Rheumatology (658) Sexual and Reproductive Health (801) Sports Medicine (595) Surgery (801) Toxicology (109) Transplantation (318) Urology (307)

Related documents

• Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network#414818
• Global Cancer Statistics, 2002#6833
• Assessing the Mutational Landscape of BRAF- and KRAS-Wild Type Colorectal Cancer#643522
• ABCB1/4 gallbladder cancer risk variants identified in India also show strong effects in Chileans#935897
• Global cancer statistics, 2012#6816