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1. 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 fragments

Author

Charbonnier F, Raux G, Wang Q, Drouot N, Cordier F, Jm, Limacher, Jc, Saurin, Alain PUISIEUX, Olschwang S, and Frebourg T

Subjects
Family Health, DNA Repair, Models, Genetic, Base Pair Mismatch, Nuclear Proteins, Exons, Colorectal Neoplasms, Hereditary Nonpolyposis, Polymerase Chain Reaction, Introns, Neoplasm Proteins, DNA-Binding Proteins, MutS Homolog 2 Protein, Gene Duplication, Proto-Oncogene Proteins, Humans, Carrier Proteins, MutL Protein Homolog 1, Gene Deletion, Adaptor Proteins, Signal Transducing
Abstract

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.

3. Le décor architectural figuré

Author

Gury, Françoise, Monde romain, Archéologie et Philologie d'Orient et d'Occident (AOROC), École normale supérieure - Paris (ENS Paris)-École pratique des hautes études (EPHE)-Centre National de la Recherche Scientifique (CNRS)-Paris Sciences et Lettres (PSL)-École normale supérieure - Paris (ENS Paris)-École pratique des hautes études (EPHE)-Centre National de la Recherche Scientifique (CNRS)-Paris Sciences et Lettres (PSL), F. Arné, J. Pihan, S. Raux, G. Guillier, Gury, Françoise, F. Arné, J. Pihan, S. Raux, G. Guillier, École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris), and Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Sarthe, [SHS.ARCHEO] Humanities and Social Sciences/Archaeology and Prehistory, Décor architectural, [SHS.ARCHEO]Humanities and Social Sciences/Archaeology and Prehistory, Antiquité romaine, sanctuaire, Mayenne, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2015

4. Notices 18-26 du catalogue

Author

Gury, Françoise, Gury, Françoise, F. Arné, J. Pihan, S. Raux, G. Guillier, Monde romain, Archéologie et Philologie d'Orient et d'Occident (AOROC), École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), F. Arné, J. Pihan, S. Raux, G. Guillier, and École normale supérieure - Paris (ENS Paris)-École pratique des hautes études (EPHE)-Centre National de la Recherche Scientifique (CNRS)-Paris Sciences et Lettres (PSL)-École normale supérieure - Paris (ENS Paris)-École pratique des hautes études (EPHE)-Centre National de la Recherche Scientifique (CNRS)-Paris Sciences et Lettres (PSL)

Subjects
Sarthe, [SHS.ARCHEO] Humanities and Social Sciences/Archaeology and Prehistory, [SHS.ARCHEO]Humanities and Social Sciences/Archaeology and Prehistory, Antiquité romaine, sanctuaire, Mayenne, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2015

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