Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)

Kevin J Monahan, Nicola Bradshaw, Sunil Dolwani, Bianca Desouza, Malcolm G Dunlop, James E East, Mohammad Ilyas, Asha Kaur, Fiona Lalloo, Andrew Latchford, Matthew D Rutter, Ian Tomlinson, Huw J W Thomas, James Hill, Hereditary CRC guidelines eDelphi consensus group, Toni Seppälä, Sue Clark, Omar Faiz, Francesc Balaguer, Monique van Leerdam, D Gareth Evans, Rodrigo Jover, Marc Tischkowitz, Helen Hanson, Sarah Gibson, Amy Taylor, Gabreilla Moeslein, Anja Wagner, J C Saurin, Tracy Smith, Jane Ashford, Jennifer Martin, Jennifer Gunningham, Mark Cooper, Kevin J Monahan, Nicola Bradshaw, Sunil Dolwani, Bianca Desouza, Malcolm G Dunlop, James E East, Mohammad Ilyas, Asha Kaur, Fiona Lalloo, Andrew Latchford, Matthew D Rutter, Ian Tomlinson, Huw J W Thomas, James Hill, Hereditary CRC guidelines eDelphi consensus group, Toni Seppälä, Sue Clark, Omar Faiz, Francesc Balaguer, Monique van Leerdam, D Gareth Evans, Rodrigo Jover, Marc Tischkowitz, Helen Hanson, Sarah Gibson, Amy Taylor, Gabreilla Moeslein, Anja Wagner, J C Saurin, Tracy Smith, Jane Ashford, Jennifer Martin, Jennifer Gunningham, Mark Cooper

Abstract

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.

Keywords: colorectal cancer; colorectal surgery; genetic testing; inherited cancers; surveillance.

Conflict of interest statement

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.

© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

Figures

Figure 1
Figure 1
Management of people with a family history of colorectal cancer. BSG, British Society of Gastroenterology; CRC, colorectal cancer; FHCC, family history of colorectal cancer; FDR, first degree relative; MMR, mismatch repair.
Figure 2
Figure 2
Gene-specific management of Lynch syndrome. MMR, mismatch repair.
Figure 3
Figure 3
Management of Lynch-like syndrome. CRC, colorectal cancer; FDRs, first degree relatives; FHCC, family history of colorectal cancer, MMR, mismatch repair.

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