
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
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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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