Grade level of principles of genetics by gardner update#
It is an update of the previous iteration of the BSG/Association of Coloproctology of Great Britain and Ireland (ACPGBI) guideline published in 2010 and developed in accordance with the BSG National Institute for Health and Care Excellence (NICE)-compliant guideline process. This guideline was commissioned by the Clinical Services and Standards Committee (CSSC) of the British Society of Gastroenterology (BSG), via the colorectal section, and a guideline chair selected. The purpose of this guideline is to provide an evidence-based framework for the optimal management of hereditary CRC for clinicians involved in their management, including gastroenterologists, nurse practitioners, physicians, colorectal surgeons, clinical geneticists, genetic counsellors and pathologists. 2 While highly penetrant syndromes such as Lynch syndrome (LS), familial adenomatous polyposis (FAP) and other polyposis syndromes account for account for only 5–10% of all CRC diagnoses, advances in genetic diagnosis, improvements in endoscopic surgical control, and medical and lifestyle interventions provide opportunities for CRC prevention and effective treatment in susceptible individuals. Ten research recommendations are also prioritised to inform clinical management of people at hereditary CRC risk.Īn estimated 35% of CRC is due to heritable factors, 1 with approximately 29% of the UK population having a family history of a first-degree relative (FDR) or second degree relative (SDR) with CRC. A systematic review of 10 189 publications was undertaken to develop 67 evidence and expert opinion-based recommendations for the management of hereditary CRC risk. We also invited external review through the Delphi process by members of the public as well as the steering committees of the European Hereditary Tumour Group (EHTG) and the European Society of Gastrointestinal Endoscopy (ESGE). On this occasion we invited the UK Cancer Genetics Group (UKCGG), a subgroup within the British Society of Genetic Medicine (BSGM), as a partner to BSG and ACPGBI in the multidisciplinary guideline development process. This guideline is an update from the 2010 British Society of Gastroenterology/Association of Coloproctology of Great Britain and Ireland (BSG/ACPGBI) guidelines for colorectal screening and surveillance in moderate and high-risk groups however, this guideline is concerned specifically with people who have increased lifetime risk of CRC due to hereditary factors, including those with Lynch syndrome, polyposis or a family history of CRC. In turn this may facilitate targeted risk-reducing interventions, including endoscopic surveillance, preventative surgery and chemoprophylaxis, which provide opportunities for cancer prevention. The quantification of an individual’s lifetime risk of gastrointestinal cancer may incorporate clinical and molecular data, and depends on accurate phenotypic assessment and genetic diagnosis. Heritable factors account for approximately 35% of colorectal cancer (CRC) risk, and almost 30% of the population in the UK have a family history of CRC. 16 Cancer Research Centre, University of Edinburgh, Edinburgh, UKĭr Kevin J Monahan, Family Cancer Clinic, St Mark's Hospital, London, HA1 3UJ, UK k.monahanimperial.ac.uk.15 Nuffield Department of Clinical Medicine, Wellcome Trust Centre for Human Genetics, Birmingham, UK.14 Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne, UK.13 Gastroenterology, University Hospital of North Tees, Stockton-on-Tees, UK.12 Polyposis Registry, St Mark's Hospital, London, UK.11 Genetic Medicine, Central Manchester University Hospitals Foundation Trust, Manchester, UK.10 Head of Policy and Campaigns, Bowel Cancer UK, London, UK.9 Faculty of Medicine & Health Sciences, Nottingham University, Nottingham, UK.8 Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK.7 Translational Gastroenterology Unit, John Radcliffe Hospital, Oxford, UK.6 CCGG, University of Edinburgh, Edinburgh, UK.5 Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.4 Gastroenterology, Cardiff and Vale NHS Trust, Cardiff, UK.3 Clinical Genetics, West of Scotland Genetics Services, Glasgow, Glasgow, UK.2 Faculty of Medicine, Imperial College, London, UK.1 Family Cancer Clinic, St Mark's Hospital, London, UK.
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