ALTERATIONS OF COPY NUMBER OF METHYLATION PATTERN IN MISMATCH REPAIR GENES BY METHYLATION SPECIFIC-MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION IN CASES OF COLON CANCER
Onrat ST1*, Çeken I2, Ellidokuz E3, Kupelioğlu A4
*Corresponding Author: Serap Tutgun Onrat, Department of Medical Genetics, Afyon Kocatepe University Medical Faculty, ANS Arastırma Uygulama Hastanesi, Morfoloji Binası, Ozdilek yolu, Afyonkarahisar, 03200, Turkey; Tel.: +90-272-246-3301, Fax: +90-272-246-3300, E-mail: tutgunonrat@ yahoo.com, sonrat@aku.edu.tr
page: 25

REFERENCES

1. Peltomäki P. Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol. 2003; 21(6): 1174-1179. 2. Chan TL, Yuen ST, Ho JW, Chan AS, Kwan K, Chung LP, Lam PW, Tse CW, Leung SY. A novel germline 1.8- kb deletion of hMLH1 mimicking alternative splicing: a founder mutation in the Chinese population. Oncogene. 2001; 20(23): 2976-2981. 3. Li L, McVety S, Younan R, Liang P, Du Sart D, Gordon PH, Hutter P, Hogervorst FB, Chong G, Foulkes WD. Distinct patterns of germline deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC). Hum Mutat. 2006; 27(4): 388. 4. Jeuken JW, Cornelissen JBS, Vriezen M, Dekkers MMG, Errami A, Sijben A, Boots-Sprenger SHE, Wesseling P. MS-MLPA: an attractive alternative laboratory assay for robust, reliable, and semiquantitative detection of MGMT promoter hypermethylation in gliomas. Lab Invest. 2007; 87(10): 1055-1065. 5. Kunkel TA, Erie DA. DNA mismatch repair. Annu Rev Biochem. 2005; 74: 681-710. 6. Strand M, Prolla TA, Liskay RM, Petes TD. Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature. 1993; 365(6443): 274-276. 7. Sia EA, Kokoska RJ, Dominska M, Greenwell P, Petes TD. Microsatellite instability in yeast:dependence on repeat unit size and DNA mismatch repair genes. Mol Cell Biol. 1997; 17(5): 2851-2858. 8. Peltomäki P, Aaltonen LA, Sistonen P, Pylkkanen L, Mecklin JP, Järvinen H, Green JS, Jass JR,Weber JL, Leach FS, Petersen GM, Hamilton SR, de la Chapelle A, Vogelstein B. Genetic mapping of a locus predisposing to human colorectal cancer. Science. 1993; 260(5109): 810-812. 9. Peltomäki P. Lynch syndrome genes. Fam Cancer. 2005; 4(3): 227-232. 10. Liu T, Yan H, Kuismanen S, Percesepe A, Bisgaard ML, Pedroni M, Benatti P, Kinzler KW, Vogelstein B, Ponz de Leon M, Peltomäki P, Lindblom A. The role of hPMS1 and hPMS2 in predisposing to colorectal cancer. Cancer Res. 2001; 61(21):7798-7802. 11. Huang J, Kuismanen SA, Liu T, Chadwick RB, Johnson CK, Stevens MW, Richards SK, Meek JE,Gao X, Wright FA, Mecklin J-P, Järvinen HJ, Grönberg H, Bisgaard ML, Lindblom A, Peltomäki P.MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer. Cancer Res. 2001; 61(4): 1619-1623. 12. Peltomäki P, Vasen H. Mutations associated with HNPCC predisposition – Update of ICGHNPCC/INSiGHT mutation database. Dis Markers. 2004; 20(4-5): 269-276. 13. Tannergård P, Lipfordd JR, Kolodner R, Frodin RJE, Nordenskjöld M, Lindblom A. Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families. Cancer Res. 1995; 55(24): 6092-6096. 14. Vasen. HFA., Wijnen J, Menko FH, Kleibeuker JH, Taal BG, Griffioen G, Nagengast FM, Meijers-Heijboer EJ, Bertario L, Varesco L, Bisgaard M, Mohr J, Fodde R, Meera Khan P. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology. 1996; 110(4): 1020-1027. 15. Kane MF, Loda M, Gaida GM, Lipman J, Mishra R, Goldman H, Jessup JM, Kolodner, R. Methylation of the hMLH1 promoter correlates with lack of expression oh hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res. 1997; 57(5): 808-811. 16. Herman JG, Umar A, Plyak K, Graff JR, Ahuja N, Issa J-PJ, Markowitz S, Willson JKV, Hamilton SR, Kinzler KW, Kane MF, Kolodner RD, Vogelstein B, Kunkel TA, Baylin SB. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carsinoma. Proc Natl Acad Sci USA 1998; 95(12): 6870-6875. 17. Gisselsson D. Chromosome instability in cancer: how, when, and why? Adv Cancer Res. 2003; 87: 1-29. 18. Esteller M, Herman JG. Cancer as an epigenetic disease: DNA methylation and chromatin alterations in human tumours. J Pathol. 2002; 196(1): 1-7. 19. Esteller M. Relevance of DNA methylation in the management of cancer. Lancet Oncol. 2003; 4(6): 351-358. 20. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002; 30(12): e57. 21. MRC-Holland, Amsterdam, The Netherlands. http:// www.mrcholland. com. Cited 16 Feb 2009. 22. Jeuken JWM, Cornelissen S, Boots-Sprenger SHE, Gijsen S, Wesseling P. Multiplex ligation-dependent probe amplification (MLPA): a diagnostic tool for simultaneous identification of different genetic markers in glial tumors. J Mol Diagnostics. 2006; 8(4): 433-443. 23. Morak M, Schackert HK, Rahner N, Betz B, Ebert M, Walldorf C, Royer-Pokora B, Schulmann K, von Knebel- Doeberitz M, Dietmaier W, Keller G, Kerker B. Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC. Eur J Hum Genet. 2008; 16(7): 804-811. 24. Nyström-Lahti M, Wu Y, Moisio A-L, Hoftra RMW, Osinga J, Mecklin J-P, Järvinen HJ, Leisti J, Buys CHCM, de la Chapelle A, Peltomäki P. DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum Mol Genet. 1996; 5(6): 763-769. 25. Nyström-Lahti M, Kristo P, Nicolaides NC, Chang SY, Aaltonen LA, Moisio AL, Järvinen HJ, Mecklin JP, Kinzler KW, Vogelstein B, de la Chapelle A, Peltomäki P. Founding mutations and Alu mediated recombination in hereditary colon cancer. Nat Med. 1995; 1(11): 1203- 1206. 26. Moisio AL, Sistonen P, Weissenbach J, de la Chapelle A, Peltomäki P. Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. Am J Hum Genet. 1996; 59(6): 1243-1251. 27. Liu HX, Zhou XL, Liu T, Werelius B, Lindmark G, Dahl N, Lindblom A. The role of hMLH3 in familial colorectal cancer. Cancer Res. 2003; 63(8): 1894-1899. 28. Kariola R, Raevaara TE, Lonnqvist KE, Nyström-Lahti M. Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome. Hum Mol Genet. 2002; 11(11): 1303-1310. 29. Kariola R, Hampel H, Frankel WL, Raevaara TE, de la Chapelle A, Nyström-Lahti M. MSH6 missense mutations are often associated with no or low cancer susceptibility. Br J Cancer. 2004; 91(7): 1287-1292. 30. Deng G, Peng E, Gum J, Terdiman J, Sleisenger M, Kim YS. Methylation of hMLH1 promoter correlates with the gene silencing with a region-specific manner in colorectal cancer. Br J Cancer. 2002; 86(4): 574-579. 31. Boland CR, Goel A. The silence of the genes: matching mismatch repair defects with tumors. Cancer. 2003; 98(1): 2091-2094. 32. Jubb AM, Bell SM, Quirke P. Mythylation and colorectal cancer. J Pathol. 2001; 195(1): 111-134. 33. Deng G, Chen A, Hong J, Chae HS, Kim YS. Methylation of CpG in a small region of the hMLH1 promoter invariably correlates with the absence of gene expression. Cancer Res. 1999; 59(9): 2029-2033. 34. Hawkins N, Norrie M, Cheong K, Mokany E, Ku SL, Meagher A, O’Connor T, Ward R. CpG island methylation in sporadic colorectal cancers and its relationship to microsatellite instability. Gastroenterology. 2002; 122(5): 1376-1387.



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