ArticleWorld journal of gastroenterology2007
Clinical and molecular analysis of hereditary non-polyposis colorectal cancer in Chinese colorectal cancer patients.
Article in World journal of gastroenterology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 9 citations in OpenAlex.
- A novel heterozygous germline deletion in MSH2 gene in a five generation Chinese family with Lynch syndrome.Oncotarget · 2017Article
- Advances in the study of Lynch syndrome in China.World journal of gastroenterology · 2015Review
- Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome.International journal of colorectal disease · 2013Article
- Lynch syndrome in Tunisia: first description of clinical features and germline mutations.International journal of colorectal disease · 2011Article
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo analyze the frequency of hereditary non-polyposis colorectal cancer (HNPCC) in Chinese colorectal cancer (CRC) patients, and to discuss the value of microsatellite instability (MSI) and/or immunohistochemistry (IHC) for MSH2/MLH1 protein analysis as pre-screening tests in China.
methodsThe Amsterdam criteria I and II (clinical diagnosis) and/or germline hMLH1/hMSH2 mutations (genetic diagnosis) were used to classify HNPCC families. Genetic tests, including microsatellite instability, immunohistochemistry for MSH2/MLH1 proteins and hMSH2/hMLH1 genes, were performed in each proband.
resultsFrom July 2000 to June 2004, 1988 patients with colorectal cancer were analysed and 114 CRC patients (5.7%) from 48 families were categorized as having HNPCC, including 76 from 26 families diagnosed clinically and 38 from the other 22 families diagnosed genetically. The sensitivity and specificity of high MSI and IHC for predicting mutations were 100% and 54%, and 79% and 77%, respectively.
conclusionThe frequency of HNPCC is approximately 10% among all Chinese CRC cases. The MSI and IHC detections for hMSH2/hMLH1 proteins are reliable pre-screening tests for hMLH1/hMSH2 germline mutations in families suspected of having HNPCC.
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