{"title":"The current status of care for families with Lynch syndrome in China.","authors":"Baoshuai Liu, Shouyu Pan, Xian Hua Gao","doi":"10.1007/s10689-025-00452-0","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"24 2","pages":"29"},"PeriodicalIF":1.8000,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Familial Cancer","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10689-025-00452-0","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
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.
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.