Analysis of BRCA and HNPCC mutations

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SPLICING REGULATORY ELEMENTSISE Intronic Splicing EnhancerISS Intronic Splicing SilencerESE Exonic Splicing EnhancerESS Exonic Splicing SilencerISEISSESE ESSGU A YRYYRY AG+ -GUAG
LEVELS OF ANALYSISPATIENT RNAin most cases not availableIn silico predictionsnot sufficient for diagnosisnot always accurateFunctional splicing assaystime-consuming but very usefulSplicing reporter minigene assays, reviewed in:Baralle <strong>and</strong> Baralle J. Med. Genet. 2005;42;737-748Cooper TA. Methods 2005; 37:331-340
Page 1 and 2: Analysis of HNPCC and BRCA mutation
Page 3: MMR GENE ALTERATIONS IN THE LYNCH S
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 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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