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中国林奇综合征患者家庭的护理现状

The current status of care for families with Lynch syndrome in China.

作者信息

Liu Baoshuai, Pan Shouyu, Gao Xian Hua

机构信息

Department of Colorectal Surgery, Changhai Hospital, Naval Medical University, Shanghai, China.

Hereditary Colorectal Cancer Center and Genetic Block Center of Familial Cancer, Changhai Hospital, Shanghai, China.

出版信息

Fam Cancer. 2025 Mar 20;24(2):29. doi: 10.1007/s10689-025-00452-0.

Abstract

Lynch syndrome is one of the most common hereditary cancer predisposition syndromes, which is caused by germline pathogenic variants in mismatch repair genes. It is associated with increased risks of colorectal cancer, endometrial cancer and various other types of cancer. With the rapid development in economy, medicine and genetic tests technology in recent decades, China had achieved significant advancements in the screening, diagnosis and treatment of Lynch syndrome. However, there are still a lot of challenges remaining unresolved. The major challenges include inconsistent access to genetic tests and counseling, regional disparities in healthcare quality, and limited implementation of clinical guidelines. This review will focus on the Chinese current status in the screening of Lynch syndrome, cancer surveillance, preventive measures, patients' willingness to take genetic tests and share genetic information, insurance coverage of medical cost, and national collaboration. At the end, we also summarize the major current research themes in Lynch syndrome in China.

摘要

林奇综合征是最常见的遗传性癌症易感综合征之一,由错配修复基因的种系致病性变异引起。它与结直肠癌、子宫内膜癌及其他多种类型癌症的发病风险增加相关。近几十年来,随着中国经济、医学和基因检测技术的快速发展,林奇综合征的筛查、诊断和治疗取得了显著进展。然而,仍有许多挑战尚未解决。主要挑战包括基因检测和咨询服务获取不一致、医疗质量的地区差异以及临床指南实施有限。本综述将聚焦于中国林奇综合征筛查的现状、癌症监测、预防措施、患者接受基因检测及分享基因信息的意愿、医疗费用的保险覆盖情况以及全国协作。最后,我们还总结了中国目前林奇综合征的主要研究主题。

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