Details

Autor(en) / Beteiligte

• Sheng, Jian-Qiu
• Zhang, Hong
• Ji, Min
• Fu, Lei
• Mu, Hong
• Zhang, Ming-Zhi
• Huang, Ji-Sheng
• Han, Min
• Li, Ai-Qin
• Wei, Zhi
• Sun, Zi-Qin
• Wu, Zi-Tao
• Xia, Chang-Hong
• Li, Shi-Rong

Titel

Genetic diagnosis strategy of hereditary non-polyposis colorectal cancer

Ist Teil von

• World journal of gastroenterology : WJG, 2009-02, Vol.15 (8), p.983-989

Ort / Verlag

United States: Department of Gastroenterology, General Hospital of Beijing Military Command, Beijing 100700, China%Department of Gastroenterology, Chinese PLA 253 Hospital, Hohhot 010051, Inner Mongolian Autonomous Region, China%Department of Oncology, First Affiliated Hospital, Zhengzhou University, Zhengzhou 450052, Henan Province, China%Shangqiu People's Hospital, Shangqiu 476000, Henan Province, China%Department of Gastroenterology, General Hospital of Jinan Military Command, Jinan 250034, Shandong Province, China

Erscheinungsjahr

2009

Quelle

MEDLINE

Beschreibungen/Notizen

• AIM： To 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. METHODS： A 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. RESULTS： High 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%. CONCLUSION： Scientific 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.