ArticleWorld journal of gastroenterology2009
Genetic diagnosis strategy of hereditary non-polyposis colorectal cancer.
Article in World journal of gastroenterology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
8 citing papers in PubMed, 12 citations in OpenAlex.
- Contribution of MLH1, MSH2, and MSH6 large genomic rearrangements to Pakistani colorectal cancer patients.Hereditary cancer in clinical practice · 2025Article
- Prevalence and spectrum ofHereditary cancer in clinical practice · 2019Article
- Advances in the study of Lynch syndrome in China.World journal of gastroenterology · 2015Review
- Correlation ofOncology letters · 2013Article
- Mismatch repair gene mutation analysis and colonoscopy surveillance in Chinese Lynch syndrome families.Cellular oncology (Dordrecht, Netherlands) · 2013Article
- Clinico-pathologic Parameters for Prediction of Microsatellite Instability in Colorectal Cancer.Cancer research and treatment · 2012Article
- Identification of cancer patients with Lynch syndrome: clinically significant discordances and problems in tissue-based mismatch repair testing.Cancer prevention research (Philadelphia, Pa.) · 2012Article
- Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases.The Journal of molecular diagnostics : JMD · 2011Article
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo study the characteristics of mismatch repair gene mutation of Chinese hereditary non-polyposis colorectal cancer (HNPCC) and hMLH1 gene promoter methylation, and to improve the screening strategy and explore the pertinent test methods.
methodsA systematic analysis of 30 probands from HNPCC families in the north of China was performed by immunohistochemistry, microsatellite instability (MSI), gene mutation and methylation detection.
resultsHigh frequency microsatellite instability occurred in 25 probands (83.3%) of HNPCC family. Loss of hMLH1 and hMSH2 protein expression accounted for 88% of all microsatellite instability. Pathogenic mutation occurred in 14 samples and 3 novel mutational sites were discovered. Deletion of exons 1-6, 1-7 and 8 of hMSH2 was detected in 3 samples and no large fragment deletion was found in hMLH1. Of the 30 probands, hMLH1 gene promoter methylation occurred in 3 probands. The rate of gene micromutation detection combined with large fragment deletion detection was 46.7%-56.7%. The rate of the two methods in combination with methylation detection was 63.3%.
conclusionScientific and rational detection strategy can improve the detection rate of HNPCC. Based on traditional molecular genetics and combined with epigenetics, multiple detection methods can accurately diagnose HNPCC.
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