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Published October 7, 2025 | Version v2.0
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MMR: CanVIG-UK Gene-Specific Guidance

Authors/Creators

  • 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
  • 3. North East and Yorkshire Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust, Sheffield, UK
  • 4. Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University Hospitals NHS Foundation Trust, Manchester, UK
  • 5. Division of Cancer Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK
  • 6. The Leeds Genetics Laboratory, NEY Genomic Laboratory Hub, Leeds Teaching Hospitals NHS Trust, Leeds, UK
  • 7. Central and South Genomics Laboratory Hub, Wessex Genomics Laboratory Service, University Hospital Southampton NHS Foundation Trust, Salisbury, UK
  • 8. Genomics and Molecular Medicine Service, Nottingham University Hospitals NHS Trust, Nottingham, UK
  • 9. Wales Genomic Health Centre, Cardiff and Vale University Health Board, Cardiff, UK
  • 10. Laboratory Genetics, Queen Elizabeth University Hospital, NHS Greater Glasgow and Clyde, Glasgow, UK
  • 11. South East Scotland Clinical Genetics, Western General Hospital, Edinburgh, UK
  • 12. Department of Clinical Genetics, CHI at Crumlin, Dublin, Ireland
  • 13. West Midlands Genomics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK
  • 14. The Royal Marsden NHS Foundation Trust, Fulham Road, London
  • 15. Peninsula Regional Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK
  • 16. Department of Clinical and Biomedical Sciences, University of Exeter, Exeter, UK

Description

CanVIG-UK review of MMR genes, 07/10/2025 (MLH1/MSH2/MSH6/PMS2): Consensus to use relevant recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MLH1, MSH2, MSH6, and PMS2 Version 1.0.0 (available at: https://clinicalgenome.org/affiliation/50099).
Additional points of specification are given below where applicable.

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Additional details

Identifiers

URL
https://www.cangene-canvaruk.org/gene-specific-recommendations