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RØYRVIK ET AL.TABLE I, continuedMutation frequencies of microsatellite-containing genesGeneHGNCRepeatMut%(tot)Mut. S/CMut%(S/C)MSH3 MSH3 (A)8 5q14.1 40 % 337/831 41 %Refs.60,1076144444444444453,545344,531194949,6610555,561517,48,49,53,55,56,59,62,66,67,70,71,75,77,82,85,87-94,96-104,110,113, 117,120-12348,49,53,55,56,59,62,64,67,70,71,75,77,82,85,87-94,96,99-104,110,121-123565317,49,59,61,64,6752,5466,1055546,47,49,53,55,59,70,74,75,80,84-86,89-92,94,96-102,104,105,107,109,110,12455555555,5611155MSH6 MSH6 (C)8 2p16.3 25 % 168/712 24 %hnRNP HNRPH1 (T)8 5q35.5 22 %HPDMPK FBXO46 (T)14 19q13.32 95 % 19/20 95 %RAD50 RAD50 (A)9 5q23.3 32 % 42/148 28 %HT001 ASTE1 (A)11 3q21.3 86 % 17/20 85 %HTF34 ZNF93 (A)819p13.1-p127 % 9/124 7 %IDN3 NIPBL (A)8 5p13.2 7 % 3/44 7 %IGF IIR IGF2R (G)8 6q25.3 22 % 120/530 23 %KIAA0092 CEP57 (A)8 11q21 7 % 3/43 7 %KIAA0295 ZNF609 (A)8 15q22.31 8 % 3/39 8 %KIAA0335 ZNF518 (A)9 10q24.1 7 % 3/43 7 %KIAA0336 GCC2 (A)8 2q12.3 8 % 3/43 7 %KIAA0355 KIAA0355 (A)9 19q13.11 4 % 1/24 4 %KIAA0530 ZNF292 (A)9 6q15 7 % 3/44 7 %Chr. LocationFAS FAS (T)7 10q23.31 7 % 3/30 10 %FLASH CASP8AP2 (A)9 6q15 0 % 0/13 0 %FLJ11186 C14orf106 (A)1114q13.1-14q21.364 % 25/39 64 %FLJ11222 MNS1 (A)10 15q11.2 28 % 11/39 27 %FLJ11383 PCNXL2 (A)10 1q42.2 74 % 29/39 74 %FLJ11712RNASEH2B(A)10 13q14.3 18 % 7/39 18 %FLJ13615 CEP290 (A)11 12q21.33 28 % 11/39 28 %FLJ20139 (A)10 1p21.2 31 % 12/39 31 %FLT3LG FLT3LG (C)9 19q13.3 36 % 7/20 35 %FTO FTO (T)14 16q12.2 80 % 16/20 80 %GART GART (A)10 21q22.11 22 % 13/60 22 %GR6 C3orf27 (GA)9 3q21.3 17 % 3/18 17 %GRB-14 GRB14 (A)9 2q24.3 30 % 17/57 30 %GRK4 GRK4 (A)9 4p16.3 13 % 19/148 13 %HBP17 FGFBP1 (A)8 4p15.32 8 % 3/38 8 %HDCMA18P LARP7 (A)8 4q25 16 % 3/44 7 %MSH2 MSH2 (A)27 2p21 63 % 22/35 63 %236
TARGET GENES OF MSI COLORECTAL CANCERTABLE I, continuedMutation frequencies of microsatellite-containing genesGene HGNC RepeatChr. Location(tot) S/C %(S/C)Mut % Mut. MutKIAA0595 PPRC1 (C)8 10q24.32 7 % 3/43 7 %KIAA0754 (A)8 1p34.3 10 % 4/41 10 %KIAA0844 ZNF365 (A)8 10q21.2 9 % 4/44 9 %KIAA0905 SEC31A (A)9 4q21.22 17 % 6/43 14 %KIAA0943 ATG4B (T)9 2q37.3 11 % 4/44 9 %KIAA0977 COBLL1 (T)9 2q24.3 20 % 10/42 24 %KIAA1052 CEP164 (A)11 11q23.3 31 % 12/39 31 %KIAA1268 PARP14 (A)10 3q21.1 23 % 9/39 23 %KIAA1333 KIAA1333 (A)10 14q12 21 % 8/39 21 %KIAA1470 RCC2 (A)10 1p36.13 46 % 18/39 46 %KKIAMRE CDKL2 (A)9 4q21.1 4 % 2/57 4 %MAC30 TMEM97 (A)10 17q11.2 17 % 9/60 15 %MARCKS MARCKS (A)11 6q22.2 74 % 42/58 72 %MAZ MAZ (C)8 16p11.2 8 % 3/38 8 %MBD4 MBD4 (A)10 3q21.3 24 % 76/384 20 %MCT4 SLC16A4 (T)9 1p12 15 % 4/36 11 %MKI67 MKI67 (A)8 10q26.2 18 %MLH3 MLH3 (A)9 14q24.3 8 % 4/27 15 %MRE11 MRE11A (T)11 11q21 75 % 55/64 86 %MRP2 ABCC2 (A)8 10q24 8 % 3/38 8 %MYO10 MYO10 (G)8 5p15.1 11 % 4/38 11 %NBS1 NBN (A)7 8q21.3 0 % 0/39 0 %NDUFC2 NDUFC2 (T)9 11q14.1 31 % 12/43 28 %NKTR NKTR (C)8 4q32.1 7 % 3/43 7 %NSEP YBX1 (C)8 1p34.2 0 % 0/82 0 %OGT OGT (T)10 Xq13.1 22 % 26/116 22 %P4HB P4HB (A)8 17q25.3 10 % 3/42 7 %PA2G4 PA2G4 (A)8 12q13.2 18 % 9/43 21 %PMS2 PMS2 (A)8 7p22.1 2 % 5/207 2 %POLA POLA1 (A)8 Xp22.11 0 % 0/66 0 %PRCC PRCC (C)8 1q21.1 12 %PRKCI PRKCI (A)8 3q26.2 11 %PRKWNK1 WNK1 (A)10 12p13.3 23 % 9/39 23 %PRRG1 PRRG1 (C)8 Xp21.1 9 % 4/43 9 %PTEN PTEN (A)6 * 2 10q23.31 17 % 26/138 19 %PTHL3 PTHLH (A)11 12p11.22 91 % 18/20 90 %PTPN21 PTPN21 (A)8 14q31.3 13 % 5/43 12 %RAB2L RGL2 (G)8 6p21.3 12 % 5/43 12 %RACK7 ZMYND8 (A)8 20q13.12 15 % 20/135 15 %RBBP2 JARID1A (A)8 12p11 17 %RBBP8 RBBP8 (A)9 18q11.2 17 % 30/179 17 %RECQL RECQL (A)9 12p12.1 8 % 19/213 9 %RFC3 RFC3 (A)1013q12.3-1321 % 8/39 21 %RGS12 RGS12 (C)8 4p16.3 29 % 11/38 29 %Refs.55555555,5655,5655,56444444444944,53,5644,52,54,5910517,44,53,55,56,59,62,67,99,125-12855,5656122,12965,67,130-1321051056454-565546,71,8744,49,5355,5655,5666,71,87,111,12671,1115656445559,69,100,133-13753,54,5955,565555,665649,61,115,13817,49,66,11144105237
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Novel genetic and epigenetic altera
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TABLE OF CONTENTSACKNOWLEDGEMENTS .
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ACKNOWLEDGEMENTSThe present work ha
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Prefacetechnology[3]. This new tech
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SummaryThe subgroup of carcinomas w
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Introduction“Epigenetic inheritan
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Introductionamino acid change it is
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Introductionmethylation during embr
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IntroductionDNA is most of the time
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IntroductionFigure 5. DNA methylati
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IntroductionFigure 6. Incidence rat
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IntroductionFigure 8. Tumor staging
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Introductioninasmuch as 80% of colo
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IntroductionInstabilities involved
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Introductionthere seems to be a fid
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Introductionsevere alterations are
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Introductionpopulation-wide screeni
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IntroductionFigure 12. Present and
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RESULTS IN BRIEFPaper Ia. “DNA hy
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Results in Briefinstability, and se
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Results in BriefUnivariate survival
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Discussionseveral factors, and full
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Discussionlow threshold, we increas
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DiscussionIt may seem like unnecess
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Discussionthan 96% DHPLC do not sta
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DiscussionFigure 13. Mutation detec
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DiscussionClinical impact of molecu
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Discussionmarkers with a very high
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Discussionchromosomes in metaphase[
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DiscussionThese examples underline
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Discussiongenes. One is based on mu
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CONCLUSIONSWe have identified novel
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Future PerspectivesMolecular risk a
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REFERENCES1. Breasted J (1930) The
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References29. Deng G, Chen A, Pong
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References57. Al-Sukhni W, Aronson
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References84. Kunkel TA (1993) Nucl
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ReferencesLeggett B, Levine J, Kim
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References133. Lind GE, Thorstensen
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References156. Meling GI, Lothe RA,
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ReferencesT, Song X, Day RH, Sledzi
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References196. Honda S, Haruta M, S
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ORIGINAL ARTICLESAPPENDIXAppendix I
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GASTROENTEROLOGY 2007;132:1631-1639
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Paper IbGuro E Lind, Terje Ahlquist
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Journal of Translational Medicine 2
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Paper IITerje Ahlquist, Guro E Lind
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BackgroundMost cases of colorectal
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ADAMTS1 CDKN2A CRABP1 HOXA9 MAL MGM
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pseudogene, leading to a high rate
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strands. Proc Natl Acad Sci U S A 1
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concomitant absence of transcript a
Page 119 and 120: Volume 10 Number 7 July 2008 pp. 68
Page 121 and 122: 682 RAS Signaling in Colorectal Car
Page 127: Table W2. Detailed Somatic Events o
Page 131 and 132: Identification of RCC2 as a prognos
Page 133 and 134: INTRODUCTIONMicrosatellite instabil
Page 135 and 136: unselected series of primary tumors
Page 137 and 138: specificity, i.e. that they only am
Page 139 and 140: On the assumption that DNA repair a
Page 141 and 142: In order to ensure that gene mutati
Page 143 and 144: Figure 2. Mutation frequency differ
Page 145 and 146: and TAF1B (0.50), ACVR2A and ASTE1
Page 147 and 148: Multivariate analysesA multivariate
Page 149 and 150: When comparing our findings of muta
Page 151 and 152: The test series included a low numb
Page 153 and 154: entering M-phase remains to be seen
Page 155 and 156: 12. Duval A, Reperant M, Hamelin R
Page 157 and 158: 34. Martineau-Thuillier S, Andreass
Page 159: AppendicesAppendix I:List of abbrev
Page 163 and 164: Critical Reviews TM in Oncogenesis,
Page 165 and 166: TARGET GENES OF MSI COLORECTAL CANC
Page 169: TARGET GENES OF MSI COLORECTAL CANC
Page 191: TARGET GENES OF MSI COLORECTAL CANC
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