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.