Novel genetic and epigenetic alterations in ... - Ous-research.no
Novel genetic and epigenetic alterations in ... - Ous-research.no Novel genetic and epigenetic alterations in ... - Ous-research.no
RØYRVIK ET AL.112. Ionov Y, Matsui S, Cowell JK. A role for p300/CREB binding protein genes inpromoting cancer progression in colon cancer cell lines with microsatellite instability.Proc Natl Acad Sci U S A. 2004;101:1273–8.113. Laghi L, Ranzani GN, Bianchi P, Mori A, Heinimann K, Orbetegli O, SpaudoMR, Luinetti O, Francisconi S, Roncalli M, Solcia E, Malesci A. Frameshiftmutations of human gastrin receptor gene (hGARE) in gastrointestinal cancerswith microsatellite instability. Lab Invest. 2002;82:265–71.114. Wicking C, Simms LA, Evans T, Walsh M, Chawengsaksophak K, Beck F,Chenevix-Trench G, Young J, Jass J, Leggett B, Wainwright B. CDX2, a humanhomologue of Drosophila caudal, is mutated in both alleles in a replicationerror positive colorectal cancer. Oncogene. 1998;17:657–9.115. El-Bchiri J, Buhard O, Penard-Lacronique V, Thomas G, Hamelin R, Duval A.Differential nonsense mediated decay of mutated mRNAs in mismatch repairdeficient colorectal cancers. Hum Mol Genet. 2005;14:2435–42.116. Yoshitaka T, Matsubara N, Ikeda M, Tanino M, Hanafusa H, Tanaka N, ShimizuK. Mutations of E2F-4 trinucleotide repeats in colorectal cancer with microsatelliteinstability. Biochem Biophys Res Commun. 1996;227:553–7.117. Ikeda M, Orimo H, Moriyama H, Nakajima E, Matsubara N, Mibu R, TanakaN, Shimada T, Kimura A, Shimizu K. Close correlation between mutations ofE2F4 and hMSH3 genes in colorectal cancers with microsatellite instability.Cancer Res. 1998;58:594–8.118. Alazzouzi H, Davalos V, Kokko A, Domingo E, Woerner SM, Wilson AJ,Konrad L, Laiho P, Espin E, Armengol M, Imai K, Yamamoto H, MariadasonJM, Gebert JF, Aaltonen LA, Schwartz S Jr, Arango D. Mechanisms of inactivationof the receptor tyrosine kinase EPHB2 in colorectal tumors. Cancer Res.2005;65:10170–3.119. Forgacs E, Wren JD, Kamibayashi C, Kondo M, Xu XL, Markowitz S,Tomlinson GE, Muller CY, Gazdar AF, Garner HR, Minna JD. Searching formicrosatellite mutations in coding regions in lung, breast, ovarian and colorectalcancers. Oncogene. 2001;20:1005–9.120. Swisher EM, Mutch DG, Herzog TJ, Rader JS, Kowalski LD, Elbendary A,Goodfellow PJ. Analysis of MSH3 in endometrial cancers with defective DNAmismatch repair. J Soc Gynecol Investig. 1998;5:210–6.121. Orimo H, Nakajima E, Ikejima M, Emi M, Shimada T. Frameshift mutationsand a length polymorphism in the hMSH3 gene and the spectrum of microsatelliteinstability in sporadic colon cancer. Jpn J Cancer Res. 1999;90:1310–5.122. Akiyama Y, Nagasaki H, Nakajima T, Sakai H, Nomizu T, Yuasa Y. Infrequentframeshift mutations in the simple repeat sequences of hMLH3 in hereditarynonpolyposis colorectal cancers. Jpn J Clin Oncol. 2001;31:61–4.252
TARGET GENES OF MSI COLORECTAL CANCER123. Ohmiya N, Matsumoto S, Yamamoto H, Baranovskaya S, Malkhosyan SR, PeruchoM. Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinalcancers of the microsatellite mutator phenotype. Gene. 2001;272:301–13.124. Ouyang H, Shiwaku HO, Hagiwara H, Miura K, Abe T, Kato Y, Ohtani H,Shiiba K, Souza RF, Meltzer SJ, Horii A. The insulin-like growth factor II receptorgene is mutated in genetically unstable cancers of the endometrium,stomach, and colorectum. Cancer Res. 1997;57:1851–4.125. Bader S, Walker M, Hendrich B, Bird A, Bird C, Hooper M, Wyllie A. Somaticframeshift mutations in the MBD4 gene of sporadic colon cancers with mismatchrepair deficiency. Oncogene. 1999;18:8044–7.126. Riccio A, Aaltonen LA, Godwin AK, Loukola A, Percesepe A, Salovaara R,Masciullo V, Genuardi M, Paravatou-Petsotas M, Bassi DE, Ruggeri BA,Klein-Szanto AJ, Testa JR, Neri G, Bellacosa A. The DNA repair gene MBD4(MED1) is mutated in human carcinomas with microsatellite instability. NatGenet. 1999;23:266–8.127. Yamada T, Koyama T, Ohwada S, Tago K, Sakamoto I, Yoshimura S, HamadaK, Takeyoshi I, Morishita Y. Frameshift mutations in the MBD4/MED1 genein primary gastric cancer with high-frequency microsatellite instability. CancerLett. 2002;181:115–20.128. Pinto M, Wu Y, Suriano G, Mensink RG, Duval A, Oliveira C, Carvalho B,Hamelin R, Seruca R, Hofstra RM. MBD4 mutations are rare in gastric carcinomaswith microsatellite instability. Cancer Genet Cytogenet. 2003;145:103–7.129. Loukola A, Vilkki S, Singh J, Launonen V, Aaltonen LA. Germline and somaticmutation analysis of MLH3 in MSI-positive colorectal cancer. Am JPathol. 2000;157:347–52.130. Giannini G, Ristori E, Cerignoli F, Rinaldi C, Zani M, Viel A, Ottini L, CrescenziM, Martinotti S, Bignami M, Frati L, Screpanti I, Gulino A. HumanMRE11 is inactivated in mismatch repair-deficient cancers. EMBO Rep.2002;3:248–54.131. Ottini L, Falchetti M, Saieva C, De MM, Masala G, Zanna I, Paglierani M,Giannini G, Gulino A, Nesi G, Mariani CR, Palli D. MRE11 expression is impairedin gastric cancer with microsatellite instability. Carcinogenesis.2004;25:2337–43.132. Giannini G, Rinaldi C, Ristori E, Ambrosini MI, Cerignoli F, Viel A, Bidoli E,Berni S, D'Amati G, Scambia G, Frati L, Screpanti I, Gulino A. Mutations ofan intronic repeat induce impaired MRE11 expression in primary human cancerwith microsatellite instability. Oncogene. 2004;23:2640–7.253
- Page 135 and 136: unselected series of primary tumors
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RØYRVIK ET AL.112. Io<strong>no</strong>v Y, Matsui S, Cowell JK. A role for p300/CREB b<strong>in</strong>d<strong>in</strong>g prote<strong>in</strong> genes <strong>in</strong>promot<strong>in</strong>g cancer progression <strong>in</strong> colon cancer cell l<strong>in</strong>es with microsatellite <strong>in</strong>stability.Proc Natl Acad Sci U S A. 2004;101:1273–8.113. Laghi L, Ranzani GN, Bianchi P, Mori A, He<strong>in</strong>imann K, Orbetegli O, SpaudoMR, Lu<strong>in</strong>etti O, Francisconi S, Roncalli M, Solcia E, Malesci A. Frameshiftmutations of human gastr<strong>in</strong> receptor gene (hGARE) <strong>in</strong> gastro<strong>in</strong>test<strong>in</strong>al cancerswith microsatellite <strong>in</strong>stability. Lab Invest. 2002;82:265–71.114. Wick<strong>in</strong>g C, Simms LA, Evans T, Walsh M, Chawengsaksophak K, Beck F,Chenevix-Trench G, Young J, Jass J, Leggett B, Wa<strong>in</strong>wright B. CDX2, a humanhomologue of Drosophila caudal, is mutated <strong>in</strong> both alleles <strong>in</strong> a replicationerror positive colorectal cancer. Oncogene. 1998;17:657–9.115. El-Bchiri J, Buhard O, Penard-Lacronique V, Thomas G, Hamel<strong>in</strong> R, Duval A.Differential <strong>no</strong>nsense mediated decay of mutated mRNAs <strong>in</strong> mismatch repairdeficient colorectal cancers. Hum Mol Genet. 2005;14:2435–42.116. Yoshitaka T, Matsubara N, Ikeda M, Tan<strong>in</strong>o M, Hanafusa H, Tanaka N, ShimizuK. Mutations of E2F-4 tr<strong>in</strong>ucleotide repeats <strong>in</strong> colorectal cancer with microsatellite<strong>in</strong>stability. Biochem Biophys Res Commun. 1996;227:553–7.117. Ikeda M, Orimo H, Moriyama H, Nakajima E, Matsubara N, Mibu R, TanakaN, Shimada T, Kimura A, Shimizu K. Close correlation between mutations ofE2F4 <strong>and</strong> hMSH3 genes <strong>in</strong> colorectal cancers with microsatellite <strong>in</strong>stability.Cancer Res. 1998;58:594–8.118. Alazzouzi H, Davalos V, Kokko A, Dom<strong>in</strong>go E, Woerner SM, Wilson AJ,Konrad L, Laiho P, Esp<strong>in</strong> E, Armengol M, Imai K, Yamamoto H, MariadasonJM, Gebert JF, Aaltonen LA, Schwartz S Jr, Arango D. Mechanisms of <strong>in</strong>activatio<strong>no</strong>f the receptor tyros<strong>in</strong>e k<strong>in</strong>ase EPHB2 <strong>in</strong> colorectal tumors. Cancer Res.2005;65:10170–3.119. Forgacs E, Wren JD, Kamibayashi C, Kondo M, Xu XL, Markowitz S,Toml<strong>in</strong>son GE, Muller CY, Gazdar AF, Garner HR, M<strong>in</strong>na JD. Search<strong>in</strong>g formicrosatellite mutations <strong>in</strong> cod<strong>in</strong>g regions <strong>in</strong> lung, breast, ovarian <strong>and</strong> colorectalcancers. Oncogene. 2001;20:1005–9.120. Swisher EM, Mutch DG, Herzog TJ, Rader JS, Kowalski LD, Elbendary A,Goodfellow PJ. Analysis of MSH3 <strong>in</strong> endometrial cancers with defective DNAmismatch repair. J Soc Gynecol Investig. 1998;5:210–6.121. Orimo H, Nakajima E, Ikejima M, Emi M, Shimada T. Frameshift mutations<strong>and</strong> a length polymorphism <strong>in</strong> the hMSH3 gene <strong>and</strong> the spectrum of microsatellite<strong>in</strong>stability <strong>in</strong> sporadic colon cancer. Jpn J Cancer Res. 1999;90:1310–5.122. Akiyama Y, Nagasaki H, Nakajima T, Sakai H, Nomizu T, Yuasa Y. Infrequentframeshift mutations <strong>in</strong> the simple repeat sequences of hMLH3 <strong>in</strong> hereditary<strong>no</strong>npolyposis colorectal cancers. Jpn J Cl<strong>in</strong> Oncol. 2001;31:61–4.252
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