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Clinical and molecular analysis of hereditary non-polyposis colorectal cancer in Chinese colorectal cancer patients.
World J Gastroenterol. 2007 Mar 14; 13(10):1612-7.WJ

Abstract

AIM

To 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.

METHODS

The 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.

RESULTS

From 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.

CONCLUSION

The 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.

Authors+Show Affiliations

Hereditary Colorectal Tumors Registry, Tianjin Binjiang Hospital, Tianjin 300022, China. Binjiang chinahcc@vip.sina.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17461458

Citation

Wang, Jun, et al. "Clinical and Molecular Analysis of Hereditary Non-polyposis Colorectal Cancer in Chinese Colorectal Cancer Patients." World Journal of Gastroenterology, vol. 13, no. 10, 2007, pp. 1612-7.
Wang J, Luo MH, Zhang ZX, et al. Clinical and molecular analysis of hereditary non-polyposis colorectal cancer in Chinese colorectal cancer patients. World J Gastroenterol. 2007;13(10):1612-7.
Wang, J., Luo, M. H., Zhang, Z. X., Zhang, P. D., Jiang, X. L., Ma, D. W., Suo, R. Z., Zhao, L. Z., & Qi, Q. H. (2007). Clinical and molecular analysis of hereditary non-polyposis colorectal cancer in Chinese colorectal cancer patients. World Journal of Gastroenterology, 13(10), 1612-7.
Wang J, et al. Clinical and Molecular Analysis of Hereditary Non-polyposis Colorectal Cancer in Chinese Colorectal Cancer Patients. World J Gastroenterol. 2007 Mar 14;13(10):1612-7. PubMed PMID: 17461458.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical and molecular analysis of hereditary non-polyposis colorectal cancer in Chinese colorectal cancer patients. AU - Wang,Jun, AU - Luo,Mao-Hong, AU - Zhang,Zuo-Xing, AU - Zhang,Pei-Da, AU - Jiang,Xi-Li, AU - Ma,Dong-Wang, AU - Suo,Rong-Zeng, AU - Zhao,Li-Zhong, AU - Qi,Qing-Hui, PY - 2007/4/28/pubmed PY - 2007/6/6/medline PY - 2007/4/28/entrez SP - 1612 EP - 7 JF - World journal of gastroenterology JO - World J. Gastroenterol. VL - 13 IS - 10 N2 - AIM: To 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. METHODS: The 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. RESULTS: From 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. CONCLUSION: The 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. SN - 1007-9327 UR - https://www.unboundmedicine.com/medline/citation/17461458/Clinical_and_molecular_analysis_of_hereditary_non_polyposis_colorectal_cancer_in_Chinese_colorectal_cancer_patients_ L2 - http://www.wjgnet.com/1007-9327/full/v13/i10/1612.htm DB - PRIME DP - Unbound Medicine ER -