ArticleWorld journal of gastroenterology2001
Clinicopathological and molecular genetic analysis of 4 typical Chinese HNPCC families.
Article in World journal of gastroenterology, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 17 citations in OpenAlex.
- Article
- Colorectal cancer in Chinese patients: current and emerging treatment options.OncoTargets and therapy · 2014Review
- Germline mutation analysis of hPMS2 gene in Chinese families with hereditary nonpolyposis colorectal cancer.World journal of gastroenterology · 2010Article
- Two novel germline mutations of MLH1 and investigation of their pathobiology in hereditary non-polyposis colorectal cancer families in China.World journal of gastroenterology · 2007Article
- Nuclear and mitochondrial DNA microsatellite instability in hepatocellular carcinoma in Chinese.World journal of gastroenterology · 2004Article
- Genetic detection of Chinese hereditary nonpolyposis colorectal cancer.World journal of gastroenterology · 2004Article
- Mutation and methylation of hMLH1 in gastric carcinomas with microsatellite instability.World journal of gastroenterology · 2003Article
- Clinical characteristics and diagnosis of patients with hereditary nonpolyposis colorectal cancer.World journal of gastroenterology · 2003Article
- Silencing-specific methylation and single nucleotide polymorphism of hMLH1 promoter in gastric carcinomas.World journal of gastroenterology · 2003Article
- Analysis for phenotype of HNPCC in China.World journal of gastroenterology · 2002Article
- Arterial chemotherapy of 5-fluorouracil and mitomycin C in the treatment of liver metastases of colorectal cancer.World journal of gastroenterology · 2002Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo study the clinicopathological and molecular genetic characteristics of typical Chinese hereditary nonpolyposis cotorectal cancer (HNPCC) families.
methodsFour typical Chinese HNPCC families were analyzed using microdissection, microsatellite instability analysis, immunostaining of hMSH2 and hMLH1 proteins and direct DNA sequencing of hMSH2 and hMLH1 genes.
resultsAll five tumor tissues of 4 probands from the 4 typical Chinese HNPCC families showed microsatellite instability at more than two loci (MSI-H or RER+ phenotype). Three out of the 4 cases lost hMSH2 protein expression and the other case showed no hMLH1 protein expression. Three pathological germline mutations (2 in hMSH2 and 1 in hMLH1), which had not been reported previously, were identified. The same mutations were also found in other affected members of two HNPCC families,respectively.
conclusionTypical Chinese HNPCC families showed relatively frequent germline mutation of mismatch repair genes. High-level microsatellite instability and loss of expression of mismatch repair genes correlated closely with germline mutation of mismatch repair genes. Microsatellite instability analysis and immunostaining of mismatch repair gene might serve as effective screening methods before direct DNA sequencing. It is necessary to establish clinical criteria and molecular diagnostic strategies more suitable for Chinese HNPCC families.
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