13.07.2015 Views

Analysis of BRCA and HNPCC mutations

Analysis of BRCA and HNPCC mutations

Analysis of BRCA and HNPCC mutations

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APPLICATIONS TO <strong>BRCA</strong>1 AND <strong>BRCA</strong>2French Network Breast cancer geneticsWe compared patient RNA analyses <strong>and</strong> the minigene assayRouen + Caen (Dr. A. Hardouin)20 variants <strong>BRCA</strong>1, <strong>BRCA</strong>2 (17 families)Analysed in parallel onPatient RNAEx vivo minigene assay6 Variants affect splicing. Perfect agreementbetween in vivo <strong>and</strong> ex vivo data

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