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

IF 1.8 4区 医学 Q3 GENETICS & HEREDITY
Baoshuai Liu, Shouyu Pan, Xian Hua Gao
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引用次数: 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.

中国Lynch综合征家庭照护现状
林奇综合征是最常见的遗传性癌症易感综合征之一,由错配修复基因中的种系致病变异引起。它与结直肠癌、子宫内膜癌和其他各种癌症的发病风险增加有关。近几十年来,随着经济、医学和基因检测技术的飞速发展,中国在林奇综合征的筛查、诊断和治疗方面取得了长足的进步。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的可及性不一致、医疗质量的地区差异以及临床指南的实施有限。本综述将重点介绍中国在林奇综合征筛查、癌症监测、预防措施、患者接受基因检测和分享基因信息的意愿、医疗费用的保险范围以及国家合作等方面的现状。最后,我们还总结了当前中国林奇综合征的主要研究课题。
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来源期刊
Familial Cancer
Familial Cancer 医学-遗传学
CiteScore
4.10
自引率
4.50%
发文量
36
审稿时长
6-12 weeks
期刊介绍: In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers. Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician. The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.
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