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[Cancer Research 60, 2760-2763, June 1, 2000]
© 2000 American Association for Cancer Research

Advances in Brief

Detection of Exon Deletions and Duplications of the Mismatch Repair Genes in Hereditary Nonpolyposis Colorectal Cancer Families Using Multiplex Polymerase Chain Reaction of Short Fluorescent Fragments1

Françoise Charbonnier, Grégory Raux, Qing Wang, Nathalie Drouot, Frédéric Cordier, Jean-Marc Limacher, Jean-Christophe Saurin, Alain Puisieux, Sylviane Olschwang and Thierry Frebourg2

Institut National de la Santé et de la Recherche Médicale (INSERM) EPI 9906, Faculté de Médecine et de Pharmacie, 76183 Rouen, and IFRMP, 76821 Mont-Saint-Aignan Cedex [F. Ch., G. R., N. D., F. Co., T. F.]; Unité d’Oncologie Moléculaire et INSERM U453, Centre Léon Bérard, 69008 Lyon [Q. W., A. P.]; Service d’Oncologie, Hôpitaux Universitaires, 67091 Strasbourg [J-M. L.]; Fédération des Spécialités Digestives, Hôpital Edouard Herriot, 69437 Lyon [J-C. S.]; and Fondation Jean Dausset-CEPH, 75010 Paris [S. O.], France

Large genomic deletions within the mismatch repair MLH1 and MSH2 genes have been identified in families with the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, and their detection represents a technical problem. To facilitate their detection, we developed a simple semiquantitative procedure based on the multiplex PCR of short fluorescent fragments. This method allowed us to confirm in HNPCC families three known deletions of MLH1 or MSH2 and to detect in 19 HNPCC families, in which analysis of mismatch repair genes using classical methods had revealed no alteration, a deletion of exon 5 and a duplication of MSH2 involving exons 9 and 10. The presence of such duplications, the frequency of which is probably underestimated, must be considered in HNPCC families in which conventional screening methods have failed to detect mutations.




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