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

Volumn 32, Issue 3, 2011, Pages 325-334

  Caux Moncoutier, Virginie ^a   Castéra, Laurent ^a   Tirapo, Carole ^a   Michaux, Dorothée ^a   Rémon, Marie Alice ^a   Laugé, Anthony ^a   Rouleau, Etienne ^a   De Pauw, Antoine ^a   Buecher, Bruno ^a   Gauthier Villars, Marion ^a   Viovy, Jean Louis ^b   Stoppa Lyonnet, Dominique ^a,c,d   Houdayer, Claude ^a,d  

^a INSTITUT CURIE   (France)

^b INSTITUT CURIE   (France)

^c INSTITUT CURIE   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

BRCA1; BRCA2; Capillary electrophoresis; Diagnosis; EMMA; Screening

Indexed keywords

BRCA1 ASSOCIATED RING DOMAIN PROTEIN 1; BRCA2 PROTEIN;

ARTICLE; CAPILLARY ELECTROPHORESIS; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC PROCEDURE; EXON; FEMALE; GENE DUPLICATION; GENE REARRANGEMENT; GENETIC SCREENING; GENOMICS; HETERODUPLEX ANALYSIS; HUMAN; MALE; MUTAGEN TESTING; MUTATIONAL ANALYSIS; POINT MUTATION; PRIORITY JOURNAL; SENSITIVITY ANALYSIS;

BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; CHROMOSOME ABERRATIONS; COST-BENEFIT ANALYSIS; DNA MUTATIONAL ANALYSIS; DNA, RECOMBINANT; ELECTROPHORESIS, CAPILLARY; FEMALE; FRAMESHIFT MUTATION; GENES, BRCA1; GENES, BRCA2; GENETIC TESTING; HIGH-THROUGHPUT SCREENING ASSAYS; HUMANS; MUTATION, MISSENSE; OVARIAN NEOPLASMS; POINT MUTATION;

EID: 79951785351     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21414     Document Type: Article

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