Analysis of BRCA and HNPCC mutations

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MUTATIONS OF PUTATIVE SPLICING REGULATORY ELEMENTSMLH1Exon 10, 3rth exon position4th exon positionIn silico predictionsVariantESEfinderRescueESEPESXASSAc.793C>T----c.794G>ASC35, SRp40 abolished--SC35pCAS splicing assayc.793C>T : partial exon 10 skipping +++c.794G>A : partial exon 10 skipping ++VectorEx 10 WT MLH1c.793C>Tc.794G>AIdentification of a new ESE element ?
MUTATIONS OF PUTATIVE SPLICING REGULATORY ELEMENTSEffect of four MLH1 or MSH2 exonic variantsand one MLH1 intronic UV in 3 different cell typesEx 9 WT MLH1c.790+10A>GEx 10 WT MLH1c.793C>Tc.794G>AEx 11 WT MLH1c.988_990delEx 5 WT MSH2c.815C>TVectorHeLaDLD1COS7Same variants in Hela cells usig pSPL3 : similar results
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: MLH1, MSH2 VARIANTS ANALYSED (FEB.
Page 13 and 14: IDENTIFYING ESE ELEMENTS OF MLH1 AN
Page 15 and 16: APPLICATIONS TO BRCA1 AND BRCA2Fren
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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