Detection of hMSH2 and hMLH1 mutations in Chinese hereditary non-polyposis colorectal cancer kindreds

World Journal of Gastroenterology : WJG
Chang-Hua ZhangWen-Hua Zhan

Abstract

To establish and validate the mutation testing for identification and characterization of hereditary non-polyposis colorectal cancer (HNPCC) in suspected Chinese patients. 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. 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. Pedigree investigation and mutation testing of hMSH2 and hMLH1 are the practical...Continue Reading

References

Nov 1, 1995·Nature Medicine·M Nyström-LahtiB Vogelstein
Apr 3, 1999·International Journal of Cancer. Journal International Du Cancer·M AarnioH J Järvinen
Feb 17, 2001·Journal of Biochemical and Biophysical Methods·E Holinski-FederT Meitinger
Mar 7, 2002·Journal of Biochemical and Biophysical Methods·Grzegorz KurzawskiJan Lubiński
Nov 7, 2002·American Journal of Epidemiology·R J MitchellH Campbell
Feb 25, 2003·American Journal of Human Genetics·Albert de la Chapelle
Mar 8, 2003·Archives of Internal Medicine·Donald W HadleyIlan Kirsch
May 29, 2003·The American Surgeon·Rebecca HoedemaMartin Luchtefeld
Oct 24, 2003·Familial Cancer·P Watson, H T Lynch
Feb 19, 2004·Journal of the National Cancer Institute·Asad UmarSudhir Srivastava
Nov 10, 2004·World Journal of Gastroenterology : WJG·Yu-Long HeJi-Fu Wang
May 11, 2007·Clinical Genetics·C L GaffI M Frayling

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Citations

Nov 30, 2013·Pathology, Research and Practice·S ZiadiM Trimeche
Aug 17, 1999·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·M IlyasW F Bodmer
Mar 11, 2000·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·M IlyasW F Bodmer
Jun 29, 2012·Carcinogenesis·Juana V Martín-LópezRichard Fishel
Oct 13, 2011·Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland·R ZhangC-X Li
Feb 13, 2013·Tuberculosis Research and Treatment·Olufemi O DesaluOlanrewaju O Oyedepo
Jan 1, 2012·ISRN Veterinary Science·Peter HedlinScott Napper
Jun 17, 2015·World Journal of Gastroenterology : WJG·Jun-Yu Lu, Jian-Qiu Sheng
Jan 7, 2009·Current Opinion in Obstetrics & Gynecology

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