Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes: APC c.3920T>A p.(Ile1307Lys) as an exemplar.

Autor: McVeigh TP; Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London, UK terri.mcveigh@gmail.com h.hanson@exeter.ac.uk.; The Institute of Cancer Research, London, UK., Lalloo F; Clinical Genetics Service, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Frayling IM; St Vincent's University Hospital, Dublin, Ireland.; St Mark's the National Bowel Hospital and Academic Institute, London, UK.; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Latchford A; St Mark's the National Bowel Hospital and Academic Institute, London, UK., Snape K; Clinical Genetics, St George's University Hospitals NHS Foundation Trust, London, UK., Durkie M; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Monahan KJ; St Mark's the National Bowel Hospital and Academic Institute, London, UK.; Imperial College London, London, UK., Hanson H; Faculty of Health and Life Sciences, University of Exeter Medical School, Exeter, UK terri.mcveigh@gmail.com h.hanson@exeter.ac.uk.; Peninsula Regional Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
Jazyk: angličtina
Zdroj: Journal of medical genetics [J Med Genet] 2024 Jul 19; Vol. 61 (8), pp. 810-812. Date of Electronic Publication: 2024 Jul 19.
DOI: 10.1136/jmg-2024-109900
Abstrakt: Competing Interests: Competing interests: None declared.
Databáze: MEDLINE