Yang Yun, You Y Nancy
Department of General Surgery, Chinese PLA General Hospital, Beijing 100853, China; Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Chin Clin Oncol. 2018 Feb;7(1):9. doi: 10.21037/cco.2018.01.06.
Lynch syndrome (LS) arises from germline mutations that lead to defective functioning of the DNA mismatch repair (MMR) system. It is the most common cause of inherited colorectal cancer (CRC), and predisposes individuals to significantly elevated risks for extracolonic cancers. A sensitive and accurate diagnostic approach will enable proactive management of the proband and at-risk relatives in order to minimize their cancer burden. Comprehensive clinical genetics care should include personalized and tailored multidisciplinary oncologic care, with consideration for the extent of surgical resection, the choice of systemic agents, and the use of radiation. Preventive strategies including lifelong multi-organ surveillance, testing of family members, prophylactic-intent surgery and chemoprevention should be considered. In this review, we aim to provide an update on the diagnostic approach to LS, and to summarize key components of comprehensive clinical genetics care, through an examination of existing data and guidelines from Asian and from Western perspectives.
林奇综合征（LS）源于种系突变，这些突变会导致DNA错配修复（MMR）系统功能缺陷。它是遗传性结直肠癌（CRC）最常见的病因，会使个体患结外癌症的风险显著升高。一种灵敏且准确的诊断方法将有助于对先证者和高危亲属进行积极管理，以尽量减轻他们的癌症负担。全面的临床遗传学护理应包括个性化且量身定制的多学科肿瘤护理，要考虑手术切除范围、全身治疗药物的选择以及放疗的使用。应考虑采取包括终身多器官监测、家庭成员检测、预防性手术和化学预防在内的预防策略。在本综述中，我们旨在通过审视来自亚洲和西方的现有数据及指南，提供关于LS诊断方法的最新信息，并总结全面临床遗传学护理的关键组成部分。
