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[Mutation of hMLH1 and hMSH2 genes in hereditary nonpolyposis colorectal cancer: analysis of 76 probands].
Zhonghua Yi Xue Za Zhi. 2008 Jul 22; 88(28):1983-5.ZY

Abstract

OBJECTIVE

To investigate the mutations of the mismatch repair genes hMLH1 and hMSH2 in hereditary nonpolyposis colorectal cancer (HNPCC).

METHODS

The DNA samples of 76 probands of HNPCC families underwent PCR amplification and sequencing on 35 exons in hMLH1 and hMSH2 genes.

RESULTS

(1) The overall mutation rate of the hMLH1 and hMSH2 genes was 33% (25/76). (2) 22 mutations were found, 16 in the hMLH1 gene and 6 in the hMSH2 gene. (3) The spectrum of mutation type included frame shift, nonsense, splice site, and missense mutations. Missense mutation was the most common mutation type.

CONCLUSION

The hMLH1 and hMSH2 mutations in Chinese HNPCC families show a wide spectrum. It seems that hMLH1 gene is involved more frequently than hMSH2 gene. A certain number of HNPCC families can be benefited from the genetic screening for mutation of the mismatch repair genes.

Authors+Show Affiliations

Department of Gastroentrorology, General Hospital of Beijing Command, Beijing 100700, China.No affiliation info availableNo affiliation info availableNo 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

chi

PubMed ID

19062740

Citation

Fu, Lei, et al. "[Mutation of hMLH1 and hMSH2 Genes in Hereditary Nonpolyposis Colorectal Cancer: Analysis of 76 Probands]." Zhonghua Yi Xue Za Zhi, vol. 88, no. 28, 2008, pp. 1983-5.
Fu L, Sheng JQ, Sun ZQ, et al. [Mutation of hMLH1 and hMSH2 genes in hereditary nonpolyposis colorectal cancer: analysis of 76 probands]. Zhonghua Yi Xue Za Zhi. 2008;88(28):1983-5.
Fu, L., Sheng, J. Q., Sun, Z. Q., Han, M., Huang, J. S., Mu, H., Han, W. L., Niu, H. L., Li, A. Q., Wu, Z. T., & Li, S. R. (2008). [Mutation of hMLH1 and hMSH2 genes in hereditary nonpolyposis colorectal cancer: analysis of 76 probands]. Zhonghua Yi Xue Za Zhi, 88(28), 1983-5.
Fu L, et al. [Mutation of hMLH1 and hMSH2 Genes in Hereditary Nonpolyposis Colorectal Cancer: Analysis of 76 Probands]. Zhonghua Yi Xue Za Zhi. 2008 Jul 22;88(28):1983-5. PubMed PMID: 19062740.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Mutation of hMLH1 and hMSH2 genes in hereditary nonpolyposis colorectal cancer: analysis of 76 probands]. AU - Fu,Lei, AU - Sheng,Jian-qiu, AU - Sun,Zi-qin, AU - Han,Min, AU - Huang,Ji-sheng, AU - Mu,Hong, AU - Han,Wen-liang, AU - Niu,Hong-li, AU - Li,Ai-qin, AU - Wu,Zi-tao, AU - Li,Shi-rong, PY - 2008/12/10/pubmed PY - 2009/4/10/medline PY - 2008/12/10/entrez SP - 1983 EP - 5 JF - Zhonghua yi xue za zhi JO - Zhonghua Yi Xue Za Zhi VL - 88 IS - 28 N2 - OBJECTIVE: To investigate the mutations of the mismatch repair genes hMLH1 and hMSH2 in hereditary nonpolyposis colorectal cancer (HNPCC). METHODS: The DNA samples of 76 probands of HNPCC families underwent PCR amplification and sequencing on 35 exons in hMLH1 and hMSH2 genes. RESULTS: (1) The overall mutation rate of the hMLH1 and hMSH2 genes was 33% (25/76). (2) 22 mutations were found, 16 in the hMLH1 gene and 6 in the hMSH2 gene. (3) The spectrum of mutation type included frame shift, nonsense, splice site, and missense mutations. Missense mutation was the most common mutation type. CONCLUSION: The hMLH1 and hMSH2 mutations in Chinese HNPCC families show a wide spectrum. It seems that hMLH1 gene is involved more frequently than hMSH2 gene. A certain number of HNPCC families can be benefited from the genetic screening for mutation of the mismatch repair genes. SN - 0376-2491 UR - https://www.unboundmedicine.com/medline/citation/19062740/[Mutation_of_hMLH1_and_hMSH2_genes_in_hereditary_nonpolyposis_colorectal_cancer:_analysis_of_76_probands]_ DB - PRIME DP - Unbound Medicine ER -