Literature DB >> 31302970

[Comprehensive application of various screening strategies of Lynch syndrome].

X H Gao1, W Zhang1, L J Liu1, H L Yan2.   

Abstract

Lynch syndrome (LS), which is the most common hereditary colorectal cancer, accounts for about 3% of all colorectal cancers. However, due to its various clinical manifestations, it is difficult to be diagnosed. The diagnosis of LS requires comprehensive application of various screening criteria (such as the Amsterdam criteria, Bethesda criteria), predictive models, risk factors, immunohistochemistry test of mismatch repair (MMR) protein, microsatellite instability (MSI) detection, MLH1 methylation detection, BRAF gene mutation detection, germline gene mutation detection, and so on. LS can be diagnosed only after the identification of pathogenic germline mutation of MMR gene. The first-degree and second-degree relatives of LS patients are recommended to be tested for the identified mutant gene. For LS patients and gene mutation carriers, LS associated cancer can be detected early or even prevented by monitoring and preventive surgery. Reproductive techniques can be used to prevent this disease from being passed down to the next generation.

Entities:  

Keywords:  Deficient mismatch repair (dMMR); Hereditary colorectal cancer; Lynch syndrome; Microsatellite instability (MSI); Screening criteria

Mesh:

Year:  2019        PMID: 31302970     DOI: 10.3760/cma.j.issn.1671-0274.2019.07.016

Source DB:  PubMed          Journal:  Zhonghua Wei Chang Wai Ke Za Zhi        ISSN: 1671-0274


  1 in total

Review 1.  Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China.

Authors:  Min Zhang; Tianhui Chen
Journal:  Hered Cancer Clin Pract       Date:  2021-05-01       Impact factor: 2.164

  1 in total

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