Analysis of BRCA and HNPCC mutations

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HNPCC (Hereditary Non Polyposis Colorectal Cancer)OR LYNCH SYNDROME2 - 5 % of colorectal cancerscrccrccrc < 50 years- Colon rectum +++- Endometrium +++- Small bowel- Urinary tract- Stomach- Ovary- Biliary tractAutosomal dominant genetic predispositionMLH1 (3p21)MSH2 (2p22-p21)MSH6 (2p16)PMS2 (7p22)MMR (mismatch repair) genesMLH1MSH2MSH6PMS2
MMR GENE ALTERATIONS IN THE LYNCH SYNDROMEData for families recruited with stringent criteria (Amsterdam)-Pathogenic point mutationsMLH1 25 %MSH2 25 %MSH6, PMS2 5 %- MSH2 gene rearrangements 10 %- MLH1 rearrangements < 4 %QMPSFMLPA< 70 %+ Many variants of unknown significance (UVs)Missense variants, silent (at the level of translation), intronic variantsDi Fiore et al., J Med Genet 2004, 41:18-20
Page 1: Analysis of HNPCC and BRCA mutation
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 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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