Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
Department of Gastrointestinal Surgery, Tampere University Hospital and TAYS Cancer Centre, Tampere, Finland.
BJS Open. 2023 May 5;7(3). doi: 10.1093/bjsopen/zrad023.
Inheritance patterns show familial clustering of gastrointestinal cancers, and multiple germline conditions have now been identified that predispose to colorectal, gastric, and pancreatic cancers.
A narrative review based on recent relevant literature was conducted.
Lynch syndrome, formerly known as hereditary non-polyposis colorectal cancer, increases the risk of several abdominal cancers, with the highest population prevalence. Familial adenomatous polyposis and some of the more infrequent polyposis syndromes have distinct characteristics affecting various organ-specific cancer risks. Hereditary gastric and pancreatic cancer syndromes include those also causing colorectal cancer, while additional genetic disorders predisposing only to upper gastrointestinal malignancies have been recognized more recently. Diagnosing and managing hereditary cancer syndromes requires multidisciplinary expertise and may be best managed in tertiary centres, with a need to consider patient preference and ensure shared decision-making.
Several germline conditions predispose to colorectal, gastric, and pancreatic cancer, which inform identification, surveillance regimens, prevention, cascade screening, counselling, and surgical management. The authors describe developments in the hereditary origin of colorectal, gastric, and pancreatic cancer with current recommendations in surveillance and surgical management.
遗传模式显示胃肠道癌症存在家族聚集性,现在已经确定了多种种系条件,使结直肠癌、胃癌和胰腺癌易感性增加。
基于最近的相关文献进行了叙述性综述。
林奇综合征,以前称为遗传性非息肉病性结直肠癌,增加了多种腹部癌症的风险,其人群患病率最高。家族性腺瘤性息肉病和一些较为罕见的息肉病综合征具有不同的特征,影响特定器官的癌症风险。遗传性胃癌和胰腺癌综合征包括也导致结直肠癌的综合征,而最近又认识到了其他仅导致上消化道恶性肿瘤的遗传疾病。遗传性癌症综合征的诊断和管理需要多学科专业知识,最好在三级中心进行管理,需要考虑患者的偏好并确保共同决策。
几种种系条件使结直肠癌、胃癌和胰腺癌易感性增加,这为识别、监测方案、预防、级联筛查、咨询和手术管理提供了依据。作者描述了结直肠癌、胃癌和胰腺癌的遗传性起源的最新发展,以及目前在监测和手术管理方面的建议。