Chen Liuxiang, Ye Liansong, Hu Bing
Department of Gastroenterology, West China Hospital, Sichuan University, Chengdu 610041, China.
Biomedicines. 2022 Dec 10;10(12):3207. doi: 10.3390/biomedicines10123207.
Colorectal cancer (CRC) is the third most commonly diagnosed cancer worldwide. Hereditary CRC syndromes account for approximately 5-10% of all CRC, with a lifetime risk of CRC that approaches 50-80% in the absence of endoscopic or surgical treatment. Hereditary CRC syndromes can be phenotypically divided into polyposis and non-polyposis syndrome, mainly according to the conditions of polyps. The typical representatives are familial adenomatous polyposis (FAP) and Lynch syndromes (LS), respectively. Over the past few decades, molecular genetics enhanced the discovery of cancer-predisposing genes and revolutionized the field of clinical oncology. Hereditary CRC syndromes have been a key part of this effort, with data showing that pathogenic variants are present in up to 10% of cases. Molecular phenotypes of tumors can not only help identify individuals with genetic susceptibility to CRC but also guide the precision prevention and treatment for the development of CRC. This review emphasizes the molecular basis and prevention strategies for hereditary CRC syndromes.
结直肠癌（CRC）是全球第三大常见诊断癌症。遗传性结直肠癌综合征约占所有结直肠癌的5%-10%，在没有内镜或手术治疗的情况下，患结直肠癌的终生风险接近50%-80%。遗传性结直肠癌综合征在表型上可分为息肉病和非息肉病综合征，主要根据息肉情况划分。典型代表分别是家族性腺瘤性息肉病（FAP）和林奇综合征（LS）。在过去几十年中，分子遗传学推动了癌症易感基因的发现，并彻底改变了临床肿瘤学领域。遗传性结直肠癌综合征一直是这项工作的关键部分，数据显示高达10%的病例存在致病性变异。肿瘤的分子表型不仅有助于识别对结直肠癌具有遗传易感性的个体，还能指导结直肠癌发生发展的精准预防和治疗。本综述重点介绍遗传性结直肠癌综合征的分子基础和预防策略。
