Brigitte Gilbert
7 Papers
91 Citations
Brigitte Gilbert is an academic researcher. The author has contributed to research in topics: Germline mutation & MLH1. The author has an hindex of 7, co-authored 7 publications.
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Papers
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
Corine Bertolotto,Fabienne Lesueur,Sandy Giuliano,Thomas Strub,Mahaut de Lichy,Karine Bille,Philippe Dessen,Benoit d’Hayer,Hamida Mohamdi,Audrey Remenieras,Eve Maubec,Arnaud de la Fouchardière,Vincent Molinié,Pierre Vabres,Stéphane Dalle,N. Poulalhon,Tanguy Martin-Denavit,Luc Thomas,Pascale Andry-Benzaquen,Nicolas Dupin,F. Boitier,Annick Rossi,Jean-Luc Perrot,Bruno Labeille,Caroline Robert,Bernard Escudier,Olivier Caron,Laurence Brugières,Simon Saule,Betty Gardie,Sophie Gad,Stéphane Richard,Jérôme Couturier,Bin Tean Teh,Paola Ghiorzo,Lorenza Pastorino,Susana Puig,Celia Badenas,Håkan Olsson,Christian Ingvar,Etienne Rouleau,Rosette Lidereau,Philippe Bahadoran,Philippe Vielh,Eve Corda,Hélène Blanché,Diana Zelenika,Pilar Galan,François Aubin,Bertrand Bachollet,Celine Becuwe,Pascaline Berthet,Yves-Jean Bignon,Valérie Bonadona,Jean -Louis Bonafe,Marie -Noelle Bonnet-Dupeyron,Frédéric Cambazard,Jacqueline Chevrant-Breton,Isabelle Coupier,Sophie Dalac,Liliane Demange,Michel D'Incan,Catherine Dugast,Laurence Faivre,Lynda Vincent-Fetita,Marion Gauthier-Villars,Brigitte Gilbert,Florent Grange,Jean-Jacques Grob,Philippe Humbert,Nicolas Janin,Pascal Joly,Delphine Kerob,Christine Lasset,Dominique Leroux,Julien Levang,Jean -Marc Limacher,Cristina Bulai Livideanu,Michel Longy,Alain Lortholary,Dominique Stoppa-Lyonnet,Sandrine Mansard,Ludovic Mansuy,Karine Marrou,Christine Mateus,Christine Maugard,Nicolas Meyer,Catherine Noguès,Pierre Souteyrand,Laurence Venat-Bouvet,Hélène Zattara,Valérie Chaudru,Gilbert M. Lenoir,Mark Lathrop,Irwin Davidson,Marie-Françoise Avril,Florence Demenais,Robert Ballotti,Brigitte Bressac-de Paillerets +98 more
TL;DR: A germline missense substitution in MITF (Mi-E318K) is identified that occurred at a significantly higher frequency in genetically enriched patients affected with melanoma, RCC or both cancers, when compared with controls and provides insights into the link between SUMOylation, transcription and cancer.
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MLH1 and MSH2 protein immunohistochemistry is useful for detection of hereditary non-polyposis colorectal cancer in young patients.
François Paraf,M Gilquin,Michel Longy,Brigitte Gilbert,Philippe Gorry,Barbara Petit,François Labrousse +6 more
TL;DR: MLH1 and MSH2 protein immunohistochemistry is useful for detection of hereditary non‐polyposis colorectal cancer in young patients.
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The 5′ region of the MSH2 gene involved in hereditary non‐polyposis colorectal cancer contains a high density of recombinogenic sequences
Françoise Charbonnier,Stéphanie Baert-Desurmont,Ping Liang,Frédéric Di Fiore,Cosette Martin,Stephanie Frerot,Sylviane Olschwang,Qing Wang,Marie-Pierre Buisine,Brigitte Gilbert,Mef Nilbert,Annika Lindblom,Thierry Frebourg +12 more
TL;DR: This study demonstrates the heterogeneity of the breakpoints within the MSH2 upstream region and reveals the remarkable density of recombinogenic Alu sequences in this region.
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Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
P. Callier,Bernard Aral,Nadine Hanna,Sandy Lambert,Hyacintha d'Indy,C. Ragon,M. Payet,Gwenaëlle Collod-Béroud,V. Carmignac,Marie Ange Delrue,Cyril Goizet,Nicole Philip,Tiffany Busa,Yves Dulac,I. Missotte,Yves Sznajer,Annick Toutain,Christine Francannet,André Mégarbané,Sophie Julia,Thomas Edouard,Pierre Sarda,Jeanne Amiel,Stanislas Lyonnet,Valérie Cormier-Daire,Brigitte Gilbert,Aurélia Jacquette,Delphine Héron,Patrick Collignon,Didier Lacombe,Fanny Morice-Picard,P. S. Jouk,Veronica Cusin,Marjolaine Willems,E. Sarrazin,K. Amarof,Christine Coubes,Marie-Claude Addor,Hubert Journel,Estelle Colin,P. Khau van Kien,Clarisse Baumann,B. Leheup,Dominique Martin-Coignard,Martine Doco-Fenzy,Alice Goldenberg,Ghislaine Plessis,Julien Thevenon,Laurent Pasquier,Sylvie Odent,Pierre Vabres,F. Huet,Nathalie Marle,Anne-Laure Mosca-Boidron,Francine Mugneret,S. Gauthier,Christine Binquet,C. Thauvin-Robinet,Guillaume Jondeau,Catherine Boileau,Laurence Faivre +60 more
TL;DR: It was impossible to make a diagnosis in 80% of patients, suggesting either that there are more loci with genes yet to be discovered or that MH can also be a relatively non‐specific feature of patients with ID.
Value of microsatellite instability typing in detecting hereditary non-polyposis colorectal cancer. A prospective multicentric study by the Association Aquitaine Gastro.
Yves Becouarn,Anne Rullier,Philippe Gorry,Denis Smith,Bruno Richard-Molard,Emmanuel Echinard,Patrick Texereau,Richard Beyssac,Jean-Louis Legoux,Hervé Lamouliatte,Thierry Frebourg,Sylviane Olschwang,Brigitte Gilbert,Laurence Venat,Véronique Picot,François Paraf,Michel Longy +16 more
TL;DR: In this paper, a strategy combining clinical selection (patient age at onset of cancer less than 50 years or family history of HNPCC tumors) and microsatellite instability typing plus immunohistochemistry, leading to mismatch repair (MMR) germline mutation analysis was proposed to detect hereditary non-polyposis colorectal cancer patients.
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