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Detection of hMSH2 and hMLH1 mutations in Chinese hereditary non-polyposis colorectal cancer kindreds.
World J Gastroenterol. 2008 Jan 14; 14(2):298-302.WJ

Abstract

AIM

To establish and validate the mutation testing for identification and characterization of hereditary non-polyposis colorectal cancer (HNPCC) in suspected Chinese patients.

METHODS

Five independent Chinese kindreds with HNPCC fulfilling the classical Amsterdam criteria were collected. Genomic DNA was extracted after informed consent was obtained. The coding region of hMSH2 and hMLH1 genes was detected by polymerase chain reaction (PCR) and denaturing high-performance liquid chromatography (DHPLC). Mutations identified in the proband by DHPLC were directly sequenced using a 377 DNA sequencer, analyzed with a basic local alignment tool (BLAST), and tested in the corresponding family members by direct DNA sequencing.

RESULTS

Mutations were identified in two Chinese HNPCC kindreds. One was the missense mutation of hMSH2 c.1808A-->G resulting in Asp 603 Gly identified in the proband of the fifth HNPCC (HNPCC5) kindred. In the HNP5 kindred, three family members were found to have this mutation and two of them had colorectal cancer. The other mutation of hMLH1 c.1882A-->G was identified in the HNP2 kindred's proband, which might be the nonsense mutation analyzed by BLAST.

CONCLUSION

Pedigree investigation and mutation testing of hMSH2 and hMLH1 are the practical methods to identify high-risk HNPCC patients in China.

Authors+Show Affiliations

Department of Gastrointestinopancreatic Surgery of the First Affiliated Hospital, Gastric Cancer Center, Sun Yat-Sen University, Guangzhou 510080, Guangdong Province, 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 available

Pub Type(s)

Journal Article
Validation Study

Language

eng

PubMed ID

18186571

Citation

Zhang, Chang-Hua, et al. "Detection of hMSH2 and hMLH1 Mutations in Chinese Hereditary Non-polyposis Colorectal Cancer Kindreds." World Journal of Gastroenterology, vol. 14, no. 2, 2008, pp. 298-302.
Zhang CH, He YL, Wang FJ, et al. Detection of hMSH2 and hMLH1 mutations in Chinese hereditary non-polyposis colorectal cancer kindreds. World J Gastroenterol. 2008;14(2):298-302.
Zhang, C. H., He, Y. L., Wang, F. J., Song, W., Yuan, X. Y., Yang, D. J., Chen, C. Q., Cai, S. R., & Zhan, W. H. (2008). Detection of hMSH2 and hMLH1 mutations in Chinese hereditary non-polyposis colorectal cancer kindreds. World Journal of Gastroenterology, 14(2), 298-302.
Zhang CH, et al. Detection of hMSH2 and hMLH1 Mutations in Chinese Hereditary Non-polyposis Colorectal Cancer Kindreds. World J Gastroenterol. 2008 Jan 14;14(2):298-302. PubMed PMID: 18186571.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Detection of hMSH2 and hMLH1 mutations in Chinese hereditary non-polyposis colorectal cancer kindreds. AU - Zhang,Chang-Hua, AU - He,Yu-Long, AU - Wang,Fang-Jin, AU - Song,Wu, AU - Yuan,Xi-Yu, AU - Yang,Dong-Jie, AU - Chen,Chuang-Qi, AU - Cai,Shi-Rong, AU - Zhan,Wen-Hua, PY - 2008/1/12/pubmed PY - 2008/5/1/medline PY - 2008/1/12/entrez SP - 298 EP - 302 JF - World journal of gastroenterology JO - World J Gastroenterol VL - 14 IS - 2 N2 - AIM: To establish and validate the mutation testing for identification and characterization of hereditary non-polyposis colorectal cancer (HNPCC) in suspected Chinese patients. METHODS: Five independent Chinese kindreds with HNPCC fulfilling the classical Amsterdam criteria were collected. Genomic DNA was extracted after informed consent was obtained. The coding region of hMSH2 and hMLH1 genes was detected by polymerase chain reaction (PCR) and denaturing high-performance liquid chromatography (DHPLC). Mutations identified in the proband by DHPLC were directly sequenced using a 377 DNA sequencer, analyzed with a basic local alignment tool (BLAST), and tested in the corresponding family members by direct DNA sequencing. RESULTS: Mutations were identified in two Chinese HNPCC kindreds. One was the missense mutation of hMSH2 c.1808A-->G resulting in Asp 603 Gly identified in the proband of the fifth HNPCC (HNPCC5) kindred. In the HNP5 kindred, three family members were found to have this mutation and two of them had colorectal cancer. The other mutation of hMLH1 c.1882A-->G was identified in the HNP2 kindred's proband, which might be the nonsense mutation analyzed by BLAST. CONCLUSION: Pedigree investigation and mutation testing of hMSH2 and hMLH1 are the practical methods to identify high-risk HNPCC patients in China. SN - 1007-9327 UR - https://www.unboundmedicine.com/medline/citation/18186571/Detection_of_hMSH2_and_hMLH1_mutations_in_Chinese_hereditary_non_polyposis_colorectal_cancer_kindreds_ L2 - https://www.wjgnet.com/1007-9327/full/v14/i2/298.htm DB - PRIME DP - Unbound Medicine ER -