메뉴 건너뛰기




Volumn 26, Issue 31, 2007, Pages 4541-4549

Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: A novel approach

Author keywords

Colorectal cancer; Endometrial cancer; Hereditary nonpolyposis colorectal cancer; Loss of heterozygosity; Promoter methylation

Indexed keywords

PROTEIN MLH1;

EID: 34447132378     PISSN: 09509232     EISSN: 14765594     Source Type: Journal    
DOI: 10.1038/sj.onc.1210236     Document Type: Article
Times cited : (52)

References (49)
  • 1
    • 0037096906 scopus 로고    scopus 로고
    • lbuquerque C, Breukel C, van der Luijt R, Fidalgo P, Lage P, Slors FJ et al. (2002). The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the beta-catenin signaling cascade. Hum Mol Genet 11: 1549-1560.
    • lbuquerque C, Breukel C, van der Luijt R, Fidalgo P, Lage P, Slors FJ et al. (2002). The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the beta-catenin signaling cascade. Hum Mol Genet 11: 1549-1560.
  • 2
    • 0034243425 scopus 로고    scopus 로고
    • FIGO staging classifications and clinical practice guidelines in the management of gynecologic cancers. FIGO committee on gynecologic oncology
    • Benedet JL, Bender H, Jones III H, Ngan HY, Pecorelli S. (2000). FIGO staging classifications and clinical practice guidelines in the management of gynecologic cancers. FIGO committee on gynecologic oncology. Int J Gynaecol Obstet 70: 209-262.
    • (2000) Int J Gynaecol Obstet , vol.70 , pp. 209-262
    • Benedet, J.L.1    Bender, H.2    Jones III, H.3    Ngan, H.Y.4    Pecorelli, S.5
  • 3
    • 0037881803 scopus 로고    scopus 로고
    • Methylation-induced G(2)/M arrest requires a full complement of the mismatch repair protein hMLH1
    • Cejka P, Stojic L, Mojas N, Russell AM, Heinimann K, Cannavo E et al. (2003). Methylation-induced G(2)/M arrest requires a full complement of the mismatch repair protein hMLH1. EMBO J 22: 2245-2254.
    • (2003) EMBO J , vol.22 , pp. 2245-2254
    • Cejka, P.1    Stojic, L.2    Mojas, N.3    Russell, A.M.4    Heinimann, K.5    Cannavo, E.6
  • 6
    • 0001510499 scopus 로고    scopus 로고
    • Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene
    • De Rosa M, Fasano C, Panariello L, Scarano MI, Belli G, Iannelli A et al. (2000). Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. Oncogene 19: 1719-1723.
    • (2000) Oncogene , vol.19 , pp. 1719-1723
    • De Rosa, M.1    Fasano, C.2    Panariello, L.3    Scarano, M.I.4    Belli, G.5    Iannelli, A.6
  • 8
    • 0033135049 scopus 로고    scopus 로고
    • Methylation of CpG in a small region of the hMLH1 promoter invariably correlates with the absence of gene expression
    • Deng G, Chen A, Hong J, Chae HS, Kim YS. (1999). Methylation of CpG in a small region of the hMLH1 promoter invariably correlates with the absence of gene expression. Cancer Res 59: 2029-2033.
    • (1999) Cancer Res , vol.59 , pp. 2029-2033
    • Deng, G.1    Chen, A.2    Hong, J.3    Chae, H.S.4    Kim, Y.S.5
  • 9
    • 33750607566 scopus 로고    scopus 로고
    • Analysis of artificially degraded DNA using STRs and SNPs-results of a collaborative European (EDNAP) exercise
    • Dixon LA, Dobbins AE, Pulker HK, Butler JM, Vallone PM, Coble MD et al. (2006). Analysis of artificially degraded DNA using STRs and SNPs-results of a collaborative European (EDNAP) exercise. Forensic Sci Int 164: 33-44.
    • (2006) Forensic Sci Int , vol.164 , pp. 33-44
    • Dixon, L.A.1    Dobbins, A.E.2    Pulker, H.K.3    Butler, J.M.4    Vallone, P.M.5    Coble, M.D.6
  • 10
    • 0001554828 scopus 로고
    • The classification of cancer of the rectum
    • Dukes C. (1932). The classification of cancer of the rectum. J Pathol Bacteriol 35: 323-332.
    • (1932) J Pathol Bacteriol , vol.35 , pp. 323-332
    • Dukes, C.1
  • 12
    • 0032487831 scopus 로고    scopus 로고
    • MLH1 promoter hypermethylation is associated with the microsatellite instability phenotype in sporadic endometrial carcinomas
    • Esteller M, Levine R, Baylin SB, Ellenson LH, Herman JG. (1998). MLH1 promoter hypermethylation is associated with the microsatellite instability phenotype in sporadic endometrial carcinomas. Oncogene 17: 2413-2417.
    • (1998) Oncogene , vol.17 , pp. 2413-2417
    • Esteller, M.1    Levine, R.2    Baylin, S.B.3    Ellenson, L.H.4    Herman, J.G.5
  • 13
    • 0036089371 scopus 로고    scopus 로고
    • Mutation cluster region, association between germline and somatic mutations and genotypephenotype correlation in upper gastrointestinal familial adenomatous polyposis
    • Groves C, Lamlum H, Crabtree M, Williamson J, Taylor C, Bass S et al. (2002). Mutation cluster region, association between germline and somatic mutations and genotypephenotype correlation in upper gastrointestinal familial adenomatous polyposis. Am J Pathol 160: 2055-2061.
    • (2002) Am J Pathol , vol.160 , pp. 2055-2061
    • Groves, C.1    Lamlum, H.2    Crabtree, M.3    Williamson, J.4    Taylor, C.5    Bass, S.6
  • 15
    • 13144266670 scopus 로고    scopus 로고
    • Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma
    • Herman JG, Umar A, Polyak K, Graff JR, Ahuja N, Issa JP et al (1998). Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci USA 95: 6870-6875.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 6870-6875
    • Herman, J.G.1    Umar, A.2    Polyak, K.3    Graff, J.R.4    Ahuja, N.5    Issa, J.P.6
  • 16
    • 0028143269 scopus 로고
    • Analysis of changes in DNA sequence copy number by comparative genomic hybridization in archival paraffin-embedded tumor samples
    • Isola J, DeVries S, Chu L, Ghazvini S, Waldman F. (1994). Analysis of changes in DNA sequence copy number by comparative genomic hybridization in archival paraffin-embedded tumor samples. Am J Pathol 145: 1301-1308.
    • (1994) Am J Pathol , vol.145 , pp. 1301-1308
    • Isola, J.1    DeVries, S.2    Chu, L.3    Ghazvini, S.4    Waldman, F.5
  • 17
    • 0030747145 scopus 로고    scopus 로고
    • Reduced frequency of extracolonic cancers in hereditary nonpolyposis colorectal cancer families with monoallelic hMLH1 expression
    • Jager AC, Bisgaard ML, Myrhoj T, Bernstein I, Rehfeld JF, Nielsen FC. (1997). Reduced frequency of extracolonic cancers in hereditary nonpolyposis colorectal cancer families with monoallelic hMLH1 expression. Am J Hum Genet 61: 129-138.
    • (1997) Am J Hum Genet , vol.61 , pp. 129-138
    • Jager, A.C.1    Bisgaard, M.L.2    Myrhoj, T.3    Bernstein, I.4    Rehfeld, J.F.5    Nielsen, F.C.6
  • 18
    • 0015043748 scopus 로고
    • Mutation and cancer: Statistical study of retinoblastoma
    • Knudson Jr AG. (1971). Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 68: 820-823.
    • (1971) Proc Natl Acad Sci USA , vol.68 , pp. 820-823
    • Knudson Jr, A.G.1
  • 19
    • 0033847512 scopus 로고    scopus 로고
    • Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers
    • Kuismanen SA, Holmberg MT, Salovaara R, de la Chapelle A, Peltomaki P. (2000). Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers. Am J Pathol 156: 1773-1779.
    • (2000) Am J Pathol , vol.156 , pp. 1773-1779
    • Kuismanen, S.A.1    Holmberg, M.T.2    Salovaara, R.3    de la Chapelle, A.4    Peltomaki, P.5
  • 20
    • 2942569549 scopus 로고    scopus 로고
    • Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients
    • Liu B, Parsons R, Papadopoulos N, Nicolaides NC, Lynch HT, Watson P et al. (1996). Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med 2: 169-174.
    • (1996) Nat Med , vol.2 , pp. 169-174
    • Liu, B.1    Parsons, R.2    Papadopoulos, N.3    Nicolaides, N.C.4    Lynch, H.T.5    Watson, P.6
  • 22
    • 0034739882 scopus 로고    scopus 로고
    • Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro
    • Nagase T, Kikuno R, Hattori A, Kondo Y, Okumura K, Ohara O. (2000). Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res 7: 347-355.
    • (2000) DNA Res , vol.7 , pp. 347-355
    • Nagase, T.1    Kikuno, R.2    Hattori, A.3    Kondo, Y.4    Okumura, K.5    Ohara, O.6
  • 23
    • 0031910118 scopus 로고    scopus 로고
    • A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype
    • Nicolaides NC, Littman SJ, Modrich P, Kinzler KW, Vogelstein B. (1998). A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype. Mol Cell Biol 18: 1635-1641.
    • (1998) Mol Cell Biol , vol.18 , pp. 1635-1641
    • Nicolaides, N.C.1    Littman, S.J.2    Modrich, P.3    Kinzler, K.W.4    Vogelstein, B.5
  • 25
    • 0345050350 scopus 로고    scopus 로고
    • DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer
    • Nystrom-Lahti M, Wu Y, Moisio AL, Hofstra RM, Osinga J, Mecklin JP et al. (1996). DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum Mol Genet 5: 763-769.
    • (1996) Hum Mol Genet , vol.5 , pp. 763-769
    • Nystrom-Lahti, M.1    Wu, Y.2    Moisio, A.L.3    Hofstra, R.M.4    Osinga, J.5    Mecklin, J.P.6
  • 26
    • 33745983267 scopus 로고    scopus 로고
    • Molecular identification and characterization of a family of kinases with homology to CaMKI/CaMKIV
    • Ohmae S, Takemoto-Kimura S, Okamura M, Adachi-Morishima A, Nonaka M, Fuse T et al. (2006). Molecular identification and characterization of a family of kinases with homology to CaMKI/CaMKIV. J Biol Chem 281: 20427-20439.
    • (2006) J Biol Chem , vol.281 , pp. 20427-20439
    • Ohmae, S.1    Takemoto-Kimura, S.2    Okamura, M.3    Adachi-Morishima, A.4    Nonaka, M.5    Fuse, T.6
  • 27
    • 23044501891 scopus 로고    scopus 로고
    • Molecular analysis of familial endometrial carcinoma: A manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome?
    • Ollikainen M, Abdel-Rahman WM, Moisio AL, Lindroos A, Kariola R, Jarvela I et al. (2005). Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome? J Clin Oncol 23: 4609-4616.
    • (2005) J Clin Oncol , vol.23 , pp. 4609-4616
    • Ollikainen, M.1    Abdel-Rahman, W.M.2    Moisio, A.L.3    Lindroos, A.4    Kariola, R.5    Jarvela, I.6
  • 28
    • 0035760845 scopus 로고    scopus 로고
    • Genotype and phenotype in hereditary nonpolyposis colon cancer: A study of families with different vs shared predisposing mutations
    • Peltomaki P, Gao X, Mecklin JP. (2001). Genotype and phenotype in hereditary nonpolyposis colon cancer: a study of families with different vs shared predisposing mutations. Fam Cancer 1: 9-15.
    • (2001) Fam Cancer , vol.1 , pp. 9-15
    • Peltomaki, P.1    Gao, X.2    Mecklin, J.P.3
  • 29
    • 4544310802 scopus 로고    scopus 로고
    • Mutations associated with HNPCC predisposition - update of ICG-HNPCC/INSiGHT mutation database
    • Peltomaki P, Vasen H. (2004). Mutations associated with HNPCC predisposition - update of ICG-HNPCC/INSiGHT mutation database. Dis Markers 20: 269-276.
    • (2004) Dis Markers , vol.20 , pp. 269-276
    • Peltomaki, P.1    Vasen, H.2
  • 30
    • 18244395089 scopus 로고    scopus 로고
    • SNPs and MALDI-TOF MS: Tools for DNA typing in forensic paternity testing and anthropology
    • Petkovski E, Keyser-Tracqui C, Hienne R, Ludes B. (2005). SNPs and MALDI-TOF MS: tools for DNA typing in forensic paternity testing and anthropology. J Forensic Sci 50: 535-541.
    • (2005) J Forensic Sci , vol.50 , pp. 535-541
    • Petkovski, E.1    Keyser-Tracqui, C.2    Hienne, R.3    Ludes, B.4
  • 31
    • 17144441735 scopus 로고    scopus 로고
    • Causes of microsatellite instability in colorectal tumors: Implications for hereditary non-polyposis colorectal cancer screening
    • Potocnik U, Glavac D, Golouh R, Ravnik-Glavac M. (2001). Causes of microsatellite instability in colorectal tumors: implications for hereditary non-polyposis colorectal cancer screening. Cancer Genet Cytogenet 126: 85-96.
    • (2001) Cancer Genet Cytogenet , vol.126 , pp. 85-96
    • Potocnik, U.1    Glavac, D.2    Golouh, R.3    Ravnik-Glavac, M.4
  • 32
    • 0037439823 scopus 로고    scopus 로고
    • An integrated physical and gene map of the 3.5-Mb chromosome 3p21.3 (AP20) region implicated in major human epithelial malignancies
    • Protopopov A, Kashuba V, Zabarovska VI, Muravenko OV, Lerman MI, Klein G et al. (2003). An integrated physical and gene map of the 3.5-Mb chromosome 3p21.3 (AP20) region implicated in major human epithelial malignancies. Cancer Res 63: 404-412.
    • (2003) Cancer Res , vol.63 , pp. 404-412
    • Protopopov, A.1    Kashuba, V.2    Zabarovska, V.I.3    Muravenko, O.V.4    Lerman, M.I.5    Klein, G.6
  • 33
    • 23244452266 scopus 로고    scopus 로고
    • Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1
    • Raevaara TE, Korhonen MK, Lohi H, Hampel H, Lynch E, Lonnqvist KE et al. (2005). Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology 129: 537-549.
    • (2005) Gastroenterology , vol.129 , pp. 537-549
    • Raevaara, T.E.1    Korhonen, M.K.2    Lohi, H.3    Hampel, H.4    Lynch, E.5    Lonnqvist, K.E.6
  • 34
    • 0141973793 scopus 로고    scopus 로고
    • Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer
    • Renkonen E, Zhang Y, Lohi H, Salovaara R, Abdel-Rahman WM, Nilbert M et al. (2003). Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer. J Clin Oncol 21: 3629-3637.
    • (2003) J Clin Oncol , vol.21 , pp. 3629-3637
    • Renkonen, E.1    Zhang, Y.2    Lohi, H.3    Salovaara, R.4    Abdel-Rahman, W.M.5    Nilbert, M.6
  • 36
    • 33644778718 scopus 로고    scopus 로고
    • Rapid identification of 14-3-3-binding proteins by protein microarray analysis
    • Satoh J, Nanri Y, Yamamura T. (2006). Rapid identification of 14-3-3-binding proteins by protein microarray analysis. J Neurosci Methods 152: 278-288.
    • (2006) J Neurosci Methods , vol.152 , pp. 278-288
    • Satoh, J.1    Nanri, Y.2    Yamamura, T.3
  • 37
    • 0035300475 scopus 로고    scopus 로고
    • Lack of MSH2 and MSH6 characterizes endometrial but not colon carcinomas in hereditary nonpolyposis colorectal cancer
    • Schweizer P, Moisio AL, Kuismanen SA, Truninger K, Vierumaki R, Salovaara R et al. (2001). Lack of MSH2 and MSH6 characterizes endometrial but not colon carcinomas in hereditary nonpolyposis colorectal cancer. Cancer Res 61: 2813-2815.
    • (2001) Cancer Res , vol.61 , pp. 2813-2815
    • Schweizer, P.1    Moisio, A.L.2    Kuismanen, S.A.3    Truninger, K.4    Vierumaki, R.5    Salovaara, R.6
  • 38
    • 0032997736 scopus 로고    scopus 로고
    • MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers
    • Simpkins SB, Bocker T, Swisher EM, Mutch DG, Gersell DJ, Kovatich AJ et al. (1999). MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers. Hum Mol Genet 8: 661-666.
    • (1999) Hum Mol Genet , vol.8 , pp. 661-666
    • Simpkins, S.B.1    Bocker, T.2    Swisher, E.M.3    Mutch, D.G.4    Gersell, D.J.5    Kovatich, A.J.6
  • 41
    • 0031436048 scopus 로고    scopus 로고
    • Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer
    • Tannergard P, Liu T, Weger A, Nordenskjold M, Lindblom A. (1997). Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer. Hum Genet 101: 51-55.
    • (1997) Hum Genet , vol.101 , pp. 51-55
    • Tannergard, P.1    Liu, T.2    Weger, A.3    Nordenskjold, M.4    Lindblom, A.5
  • 43
    • 5444228968 scopus 로고    scopus 로고
    • Influence of template DNA degradation on the genotyping of SNPs and STR polymorphisms from forensic materials by PCR
    • Utsuno H, Minaguchi K. (2004). Influence of template DNA degradation on the genotyping of SNPs and STR polymorphisms from forensic materials by PCR. Bull Tokyo Dent Coll 45: 33-46.
    • (2004) Bull Tokyo Dent Coll , vol.45 , pp. 33-46
    • Utsuno, H.1    Minaguchi, K.2
  • 44
    • 27744544298 scopus 로고    scopus 로고
    • van Puijenbroek M, Dierssen JW, Stanssens P, van Eijk R, Cleton-Jansen AM, van Wezel T et al. (2005). Mass spectrometry-based loss of heterozygosity analysis of single-nucleotide polymorphism loci in paraffin embedded tumors using the MassEXTEND assay: single-nucletide polymorphism loss of heterozygosity analysis of the protein tyrosine phosphatase receptor type J in familial colorectal cancer. J Mol Diagn 7: 623-630.
    • van Puijenbroek M, Dierssen JW, Stanssens P, van Eijk R, Cleton-Jansen AM, van Wezel T et al. (2005). Mass spectrometry-based loss of heterozygosity analysis of single-nucleotide polymorphism loci in paraffin embedded tumors using the MassEXTEND assay: single-nucletide polymorphism loss of heterozygosity analysis of the protein tyrosine phosphatase receptor type J in familial colorectal cancer. J Mol Diagn 7: 623-630.
  • 46
    • 0033861009 scopus 로고    scopus 로고
    • The role of hypermethylation of the hMLH1 promoter region in HNPCC versus MSI+ sporadic colorectal cancers
    • Wheeler JM, Loukola A, Aaltonen LA, Mortensen NJ, Bodmer WF. (2000). The role of hypermethylation of the hMLH1 promoter region in HNPCC versus MSI+ sporadic colorectal cancers. J Med Genet 37: 588-592.
    • (2000) J Med Genet , vol.37 , pp. 588-592
    • Wheeler, J.M.1    Loukola, A.2    Aaltonen, L.A.3    Mortensen, N.J.4    Bodmer, W.F.5
  • 48
    • 0037168207 scopus 로고    scopus 로고
    • Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers
    • Yuen ST, Chan TL, Ho JW, Chan AS, Chung LP, Lam PW et al. (2002). Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers. Oncogene 21: 7585-7592.
    • (2002) Oncogene , vol.21 , pp. 7585-7592
    • Yuen, S.T.1    Chan, T.L.2    Ho, J.W.3    Chan, A.S.4    Chung, L.P.5    Lam, P.W.6
  • 49
    • 31544454387 scopus 로고    scopus 로고
    • Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers
    • Zhang J, Lindroos A, Ollila S, Russell A, Marra G, Mueller H et al. (2006). Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers. Cancer Res 66: 659-664.
    • (2006) Cancer Res , vol.66 , pp. 659-664
    • Zhang, J.1    Lindroos, A.2    Ollila, S.3    Russell, A.4    Marra, G.5    Mueller, H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.