title: Advances in the study of Lynch syndrome in China.
abstract: Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer, is an autosomal dominant genetic condition that has a high risk of colon cancer as well as other cancers due to inherited mutations in mismatch repair (MMR) genes. During the last decades, there have been great advances in research on Chinese Lynch syndrome. This review mainly focuses on the genetic basis, clinicopathologic features, diagnosis, intervention, chemoprevention, and surveillance of Lynch syndrome in China. In addition to frequently altered MMR genes, such as MLH1, MSH2, MSH6, and MLH3, other MMR-associated genes, such as those encoding human exonuclease 1, transforming growth factor β receptor 2, and alanine aminopeptidase, metastasis-associated protein 2, adenomatosis polyposis coli down-regulated 1, and hepatic and glial cell adhesion molecule have also been implicated in Chinese Lynch syndrome. Most Chinese researchers focused on the clinicopathologic features of Lynch syndrome, and it is noticeable that the most frequent extracolonic tumor in northeast China is lung cancer, which is different from other areas in China. The Chinese diagnostic criteria for Lynch syndrome have been established to identify gene mutation or methylation. With regard to chemoprevention, celecoxib may be effective to prevent polyps relapse in Lynch syndrome carriers. Additionally, a colonoscopy-based surveillance strategy for the prevention and early detection of neoplasms in Lynch-syndrome carriers has been proposed.
authors.affiliation: Jun-Yu Lu, Jian-Qiu Sheng, Department of Gastroenterology, General Hospital of Beijing Military Region, Beijing 100700, China.
authors.forename: Jun-Yu
authors.initials: JY
authors.lastname: Lu
authors.affiliation: Jun-Yu Lu, Jian-Qiu Sheng, Department of Gastroenterology, General Hospital of Beijing Military Region, Beijing 100700, China.
authors.forename: Jian-Qiu
authors.initials: JQ
authors.lastname: Sheng
mesh_terms: D000818:Animals; D016588:Anticarcinogenic Agents / Q000627:therapeutic use; D044466:Asian People / Q000235:genetics; D000068579:Celecoxib / Q000627:therapeutic use; D002681:China; D003113:Colonoscopy; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics / Q000517:prevention & control; D055088:Early Detection of Cancer / Q000379:methods; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D010641:Phenotype; D011237:Predictive Value of Tests; D012307:Risk Factors; D016896:Treatment Outcome
chemical_list: D016588:Anticarcinogenic Agents; D005819:Genetic Markers; D000068579:Celecoxib
keywords: Clinicopathologic features; Diagnostic criteria; Genetics; Intervention; Lynch syndrome