PMID: 8592341Nov 1, 1995Paper

Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes

Journal of Medical Genetics
J M BuersteddeR J Scott

Abstract

The cancer predisposition in most HNPCC families is believed to be associated with mutations in the human mismatch repair gene homologues hMSH2 and hMLH1. We searched for mutations in our collection of 10 Swiss HNPCC families by sequencing the exons and exon/intron boundaries of the hMSH2 and hMLH1 genes. In four families we found different mutations which are expected to lead to protein truncations of either the hMSH2 or the hMLH1 proteins owing to premature in frame stop codons or splice defects. In two more families we detected mutations leading to an amino acid deletion and an amino acid substitution in an evolutionary conserved residues respectively. None of these mutations has been reported in other families, which is consistent with the notion that HNPCC associated hMSH2 and hMLH1 mutations are heterogeneous and there is no striking founder effect in the Swiss population. Whenever this could be investigated, the presence of the mutations was confirmed in other family members who showed manifestations of HNPCC. Interestingly, an obligate carrier in one of the families developed a brain tumour at the age of 29, histologically verified as a glioblastoma multiforme, which was recently linked to HNPCC in the context of Turcot...Continue Reading

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Citations

Jun 20, 1997·International Journal of Cancer. Journal International Du Cancer·K HeinimannR J Scott
Dec 2, 1998·International Journal of Cancer. Journal International Du Cancer·P HutterP O Chappuis
Jun 22, 2000·International Journal of Cancer. Journal International Du Cancer·R A Bevilacqua, A J Simpson
Nov 28, 2000·International Journal of Cancer. Journal International Du Cancer·P MailletA P Sappino
Oct 23, 1997·Diseases of the Colon and Rectum·S Baba
Feb 1, 1996·Human Genetics·Y K MaliakaJ M Buerstedde
Mar 20, 2002·Biochimie·Sandrine Jacob, Françoise Praz
Oct 23, 2002·Alimentary Pharmacology & Therapeutics·J D Trimbath, F M Giardiello
Mar 14, 1996·The New England Journal of Medicine·A MerloR Scott
Nov 1, 2001·Clinical Obstetrics and Gynecology·E Swisher
Oct 13, 2011·Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland·R ZhangC-X Li
Dec 1, 1996·Journal of Medical Genetics·C BrassettE R Maher
Sep 1, 1996·Journal of Medical Genetics·N J FroggattE R Maher
Jan 1, 2005·Hereditary Cancer in Clinical Practice·Mary McPhillipsRodney J Scott
Aug 31, 2013·Familial Cancer·Yael GoldbergTamar Peretz
Oct 2, 2009·Surgical Oncology Clinics of North America·Patrick M Lynch
Aug 16, 2006·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Timm GoeckeUNKNOWN German HNPCC Consortium
Jan 1, 1997·Human Mutation·N Papadopoulos, A Lindblom
Jun 10, 1998·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·M M de las AlasS B Howell
Jun 6, 2009·Journal of Neuro-oncology·Joachim BaehringSerguei I Bannykh
Dec 1, 1996·Gastroenterology Clinics of North America·G Marra, C R Boland

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