Analysis of BRCA and HNPCC mutations

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COMPARISONS WITH PATIENT RNA DATA130 MLH1, MSH2 variants analysed25 % (31 / 130) variants affect splicing37 / 130 variants tested on patient RNA35 Concordant results 2 Discordant results(but NMD not prevented)
APPLICATIONS TO BRCA1 AND BRCA2French Network Breast cancer geneticsWe compared patient RNA analyses and the minigene assayRouen + Caen (Dr. A. Hardouin)20 variants BRCA1, BRCA2 (17 families)Analysed in parallel onPatient RNAEx vivo minigene assay6 Variants affect splicing. Perfect agreementbetween in vivo and ex vivo data
Page 1 and 2: Analysis of HNPCC and BRCA mutation
Page 3 and 4: MMR GENE ALTERATIONS IN THE LYNCH S
Page 5 and 6: LEVELS OF ANALYSISPATIENT RNAin mos
Page 7 and 8: SPLICING ASSAYWild-type exon1) Clon
Page 9 and 10: MLH1, MSH2 VARIANTS ANALYSED (FEB.
Page 11 and 12: MUTATIONS OF PUTATIVE SPLICING REGU
Page 13: IDENTIFYING ESE ELEMENTS OF MLH1 AN
Page 17 and 18: EXAMPLE 2BRCA2 c.9501+3A>T (IVS25+3
Page 19 and 20: SUMMARYLarge numbers of UVs screene
Page 21 and 22: INTERPRETATION OFTEN REQUIRESAdding

Analysis of BRCA and HNPCC mutations

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