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. 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. In turn this may facilitate targeted risk-reducing interventions, including endoscopic surveillance, preventative surgery and chemoprophylaxis, which provide opportunities for cancer prevention. 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. 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. 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). 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. Ten research recommendations are also prioritised to inform clinical management of people at hereditary CRC risk.
- colorectal cancer
- genetic testing
- inherited cancers
- colorectal surgery
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Collaborators Hereditary CRC guidelines eDelphi consensus group (professional societies or other roles in brackets) Toni Seppälä (EHTG, INSIGHT), Sue Clark (EHTG, BSG, INSIGHT, ACPGBI, ESCP), Omar Faiz (ACPGBI, ESCP), Francesc Balaguer (AEG, EHTG), Monique van Leerdam (EHTG, ESGE), D Gareth Evans (UKCGG, EHTG), Rodrigo Jover (EHTG, ESGE), Marc Tischkowitz (UKCGG), Helen Hanson (UKCGG), Sarah Gibson (UKCGG), Amy Taylor (UKCGG), Gabreilla Moeslein (EHTG, ESCP), Anja Wagner (EHTG), JC Saurin (ESGE), Tracy Smith (PPI, Lynch Syndrome UK), Jane Ashford (PPI, Lynch Syndrome UK), Jennifer Martin (PPI, Lynch Syndrome UK), Jennifer Gunningham (PPI, Polyposis representative), Mark Cooper (PPI, Lynch Syndrome UK).
Contributors The document was written by all members of the guideline development group (GDG) and edited by the lead author. The guideline development process was contributed by all members of the GDG as outlined in the methods section.
Funding This study was funded by of British Society of Gastroenterology. Prof. James East was funded by the National Institute for Health Research (NIHR) Oxford Biomedical Research Centre (BRC). The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health.
Competing interests KJM: Medical advisory board of Bowel Cancer UK, Lynch Syndrome UK. JH and FL: FAP trial (now closed) with funding awarded to NHS trust research facility. JE: Advisory board Lumendi, Boston Scientific; Speaker fees Olympus, Falk. MDR: Speaker fees: SwissSCWeb, Pentax; Research Grant: Olympus; Consultancy: Norgine.
Patient consent for publication Not required.
Provenance and peer review Commissioned; externally peer reviewed.
Data availability statement All data relevant to the study are included in the article.
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