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[Cancer Research 62, 848-853, February 1, 2002]
© 2002 American Association for Cancer Research

Molecular Biology and Genetics

MSH2 in Contrast to MLH1 and MSH6 Is Frequently Inactivated by Exonic and Promoter Rearrangements in Hereditary Nonpolyposis Colorectal Cancer1

Françoise Charbonnier, Sylviane Olschwang, Qing Wang, Cécile Boisson, Cosette Martin, Marie-Pierre Buisine, Alain Puisieux and Thierry Frebourg2

Laboratoire de Génétique Moléculaire, CHU de Rouen et Institut National de la Santé et de la Recherche Médicale EMI 9906, Faculté de Médecine et de Pharmacie, IFRMP, 76183 Rouen [F. C., C. M., T. F.]; Unité d’Oncologie Moléculaire, Institut National de la Santé et de la Recherche Médicale U453, Centre Léon Bérard, 69373 Lyon [Q. W., A. P.]; Fondation Jean Dausset-Centre d’Etude du Polymorphisme Humain, Paris [S. O., C. B.]; and Laboratoire de Biochimie et Biologie Moléculaire, CHU de Lille 59037 Lille [M-P. B.], France

To estimate the relative frequency of mismatch repair genes, rearrangements in hereditary nonpolyposis colorectal cancer (HNPCC) families without detectable mutations in MSH2 or MLH1, we have analyzed by multiplex PCR of short fluorescent fragments MSH2, MLH1, and MSH6 in 61 families, either fulfilling Amsterdam criteria or including cases of multiple primary cancers belonging to the HNPCC spectrum. We detected 13 different genomic rearrangements of MSH2 in 14 families (23%), whereas we found no rearrangement of MLH1 and MSH6. Analysis of 31 other families, partially meeting Amsterdam criteria, revealed no additional rearrangement of MSH2. All of the MSH2 rearrangements, except one, corresponded to genomic deletions involving one or several exons. In 8 of 13 families with a MSH2 genomic deletion, the MSH2 promoter was also deleted, and the 5' breakpoint was located either within or upstream the MSH2 gene. This study demonstrates the heterogeneity of MSH2 exonic and promoter rearrangements and shows that, in HNPCC families without detectable MSH2 or MLH1 point mutation, one must consider the presence of MSH2 genomic rearrangements before the involvement of other mismatch repair genes. The simplicity and rapidity of their detection, using fluorescent multiplex PCR, led us to recommend to begin the molecular analysis in HNPCC by screening for MSH2 rearrangements.




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HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Cancer Research Clinical Cancer Research
Cancer Epidemiology Biomarkers & Prevention Molecular Cancer Therapeutics
Molecular Cancer Research Cancer Prevention Research
Cancer Prevention Journals Portal Cancer Reviews Online
Annual Meeting Education Book Meeting Abstracts Online
Copyright © 2002 by the American Association for Cancer Research.