Yu Jiehai, Ding Pei-Rong, Jiang Wu
Department of Colorectal Surgery, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Sun Yat-sen University Cancer Center, Guangzhou Guangdong, P. R. China.
Clin Colon Rectal Surg. 2023 May 3;36(6):369-377. doi: 10.1055/s-0043-1767706. eCollection 2023 Nov.
Lynch syndrome (LS), caused by germline mutations in the mismatch repair genes, is the most common hereditary colorectal cancer. While LS is also associated with various cancers, early detection of the proband is meaningful for tumor prevention, treatment, and familial management. It has been a dramatic shift on the screening approaches for LS. As the rapid development of the molecular biological methods, a comprehensive understanding of the LS screening strategies will help to improve the clinical care for this systematic disease. The current screening strategies have been well validated but mainly by evidence derived from western population, lacking consideration of the ethnic heterogeneity, which hampers the universality and clinical application in China. Hence, this review will focus on the Chinese experience in LS screening, aiming to help better understand the ethnic diversity and further optimize the screening strategies.
林奇综合征（LS）由错配修复基因的种系突变引起，是最常见的遗传性结直肠癌。虽然LS也与多种癌症相关，但先证者的早期检测对肿瘤预防、治疗和家族管理具有重要意义。LS的筛查方法发生了巨大转变。随着分子生物学方法的迅速发展，全面了解LS筛查策略将有助于改善对这种系统性疾病的临床护理。目前的筛查策略已经得到充分验证，但主要依据西方人群的证据，缺乏对种族异质性的考虑，这妨碍了其在中国的普遍性和临床应用。因此，本综述将聚焦于中国在LS筛查方面的经验，旨在帮助更好地理解种族多样性并进一步优化筛查策略。
