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.

中文翻译：

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英国胃肠病学会 (BSG)/大不列颠及爱尔兰结肠直肠癌协会 (ACPGBI)/英国癌症遗传学组 (UKCGG) 的遗传性结直肠癌管理指南

遗传因素约占结直肠癌 (CRC) 风险的 35%，英国近 30% 的人口有 CRC 家族史。个体终生胃肠道癌症风险的量化可能会结合临床和分子数据，并取决于准确的表型评估和基因诊断。反过来，这可能会促进有针对性的风险降低干预措施，包括内窥镜监测、预防性手术和化学预防，从而为癌症预防提供机会。本指南是对 2010 年英国胃肠病学会/大不列颠及爱尔兰结肠直肠病学会 (BSG/ACPGBI) 中度和高危人群结直肠筛查和监测指南的更新；然而，该指南特别关注因遗传因素而终生患 CRC 风险增加的人群，包括患有 Lynch 综合征、息肉病或 CRC 家族史的人群。在此之际，我们邀请了英国遗传医学学会 (BSGM) 下属的英国癌症遗传学小组 (UKCGG) 作为 BSG 和 ACPGBI 在多学科指南制定过​​程中的合作伙伴。我们还邀请公众成员以及欧洲遗传性肿瘤小组 (EHTG) 和欧洲胃肠内窥镜学会 (ESGE) 的指导委员会通过 Delphi 流程进行外部审查。对 10189 份出版物进行了系统审查，以制定 67 项基于证据和专家意见的建议，用于管理遗传性 CRC 风险。