Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)
CanVIG-UK propose a framework for the classification of variants of reduced penetrance in high-penetrance genes. These principles, although developed for cancer susceptibility genes, are potentially applicable to other clinical contexts.
Authors
- Trudi McDevitt (ORCID: https://orcid.org/0009-0008-2425-5194)
- Sheila Palmer-Smith
- Helen Hanson (ORCID: https://orcid.org/0000-0002-3303-8713)
- Sophie Allen (ORCID: https://orcid.org/0000-0003-4928-2240)
- Clare Turnbull (ORCID: https://orcid.org/0000-0002-1734-5772)
- Rachel Robinson (ORCID: https://orcid.org/0009-0005-9466-5891)
- Judith Pagan
- Alice Garrett (ORCID: https://orcid.org/0000-0001-8942-283X)
- Bethan Frugtniet
- Jonathan Grant (ORCID: https://orcid.org/0000-0002-1646-3486)
- Alison Callaway (ORCID: https://orcid.org/0000-0002-9236-7891)
- George J. Burghel (ORCID: https://orcid.org/0000-0001-9360-8194)
- Miranda Durkie (ORCID: https://orcid.org/0000-0001-7071-7048)
- Charlie F Rowlands (ORCID: https://orcid.org/0000-0001-5333-4846)
- Terri McVeigh (ORCID: https://orcid.org/0000-0001-9201-9216)
- Joanne Field
Institutions
- Cardiff and Vale University Health Board (GB)
- Royal Marsden NHS Foundation Trust (GB)
- Nottingham University Hospitals NHS Trust (GB)
- Institute of Cancer Research (GB)
- Leeds Teaching Hospitals NHS Trust (GB)
- Royal Devon & Exeter NHS Foundation Trust (GB)
- Western General Hospital (GB)
- NHS Greater Glasgow and Clyde (GB)
- University Hospital of Wales (GB)
- St George’s University Hospitals NHS Foundation Trust (GB)
- University Hospital Southampton NHS Foundation Trust (GB)
- University of Manchester (GB)
- Children's Health Ireland at Crumlin (IE)
- Sheffield Children's NHS Foundation Trust (GB)
- Genomics England (GB)
- Queen Elizabeth University Hospital (GB)
Publication Details
- Journal
- Genetics in Medicine
- Published
- 2024-10-24
- DOI
- https://doi.org/10.1016/j.gim.2024.101305
- Citations
- 8
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 4.40
Funders
- Cancer Research UK