EMMA, a cost and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients. - CNRS - Centre national de la recherche scientifique Accéder directement au contenu
Article Dans Une Revue Human Mutation Année : 2011

EMMA, a cost and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.

Virginie Caux-Moncoutier
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Laurent Castera
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Carole Tirapo
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Dorothée Michaux
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Marie-Alice Remon
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Anthony Laugé
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Etienne Rouleau
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Antoine de Pauw
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Bruno Buecher
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Marion Gauthier-Villars
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Jean-Louis Viovy
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Dominique Stoppa-Lyonnet
Claude Houdayer
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Résumé

The detection of unknown mutations remains a serious challenge and, despite the expected benefits for the patient's health, a large number of genes are not screened on a routine basis. We present the diagnostic application of EMMA (Enhanced Mismatch Mutation Analysis®, Fluigent), a novel method based on heteroduplex analysis by capillary electrophoresis using innovative matrices. BRCA1 and BRCA2 were screened for point mutations and large rearrangements in 1,525 unrelated patients (372 for the validation step and 1,153 in routine diagnosis) using a single analytical condition. Seven working days were needed for complete BRCA1/2 screening in 30 patients by one technician (excluding DNA extraction and sequencing). A total of 137 mutations were found, including a BRCA2 duplication of exons 19 and 20, previously missed by Comprehensive BRACAnalysis®. The mutation detection rate was 11.9%, which is consistent with patient inclusions. This study therefore suggests that EMMA represents a valuable short-term and mid-term option for many diagnostic laboratories looking for an easy, reliable and affordable strategy, enabling fast and sensitive analysis for a large number of genes.

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Dates et versions

hal-00613913 , version 1 (08-08-2011)

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Virginie Caux-Moncoutier, Laurent Castera, Carole Tirapo, Dorothée Michaux, Marie-Alice Remon, et al.. EMMA, a cost and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.. Human Mutation, 2011, 32 (3), pp.325. ⟨10.1002/humu.21414⟩. ⟨hal-00613913⟩
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