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Volumn 80, Issue 5, 2011, Pages 428-434

Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort

Author keywords

Colorectal cancer; Epimutation; Lynch syndrome; MLH1

Indexed keywords

CELL DNA; MYOD PROTEIN; PROTEIN MLH1;

EID: 79960123568     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01660.x     Document Type: Article
Times cited : (27)

References (24)
  • 1
    • 80053566847 scopus 로고    scopus 로고
    • GLOBOCAN 2008, Cancer Incidence and Mortality Worldwide: IARC CancerBase No. 10. Lyon, France: International Agency for Research on Cancer;, from: Accessed on January 10, 2011.
    • Ferlay J, Shin HR, Bray F, Forman D, Mathers C, Parkin DM. GLOBOCAN 2008, Cancer Incidence and Mortality Worldwide: IARC CancerBase No. 10. Lyon, France: International Agency for Research on Cancer; 2010, from: Accessed on January 10, 2011.
    • (2010)
    • Ferlay, J.1    Shin, H.R.2    Bray, F.3    Forman, D.4    Mathers, C.5    Parkin, D.M.6
  • 2
    • 12844275378 scopus 로고    scopus 로고
    • Lynch syndrome: history and current status.
    • Lynch HT, Lynch JF. Lynch syndrome: history and current status. Dis Markers 2004: 20 (4-5): 181-198.
    • (2004) Dis Markers , vol.20 , Issue.4-5 , pp. 181-198
    • Lynch, H.T.1    Lynch, J.F.2
  • 3
    • 4544310802 scopus 로고    scopus 로고
    • Mutations associated with HNPCC predisposition - update of ICG-HNPCC/INSiGHT mutation database.
    • Peltomaki P, Vasen H. Mutations associated with HNPCC predisposition - update of ICG-HNPCC/INSiGHT mutation database. Dis Markers 2004: 20 (4-5): 269-276.
    • (2004) Dis Markers , vol.20 , Issue.4-5 , pp. 269-276
    • Peltomaki, P.1    Vasen, H.2
  • 4
    • 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. Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer. Hum Genet 1997: 101 (1): 51-55.
    • (1997) Hum Genet , vol.101 , Issue.1 , pp. 51-55
    • Tannergard, P.1    Liu, T.2    Weger, A.3    Nordenskjold, M.4    Lindblom, A.5
  • 5
    • 72749085056 scopus 로고    scopus 로고
    • Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer.
    • Hitchins MP, Ward RL. Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. J Med Genet 2009: 46 (12): 793-802.
    • (2009) J Med Genet , vol.46 , Issue.12 , pp. 793-802
    • Hitchins, M.P.1    Ward, R.L.2
  • 6
    • 58149144567 scopus 로고    scopus 로고
    • Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1.
    • Ligtenberg MJ, Kuiper RP, Chan TL et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nat Genet 2009: 41 (1): 112-117.
    • (2009) Nat Genet , vol.41 , Issue.1 , pp. 112-117
    • Ligtenberg, M.J.1    Kuiper, R.P.2    Chan, T.L.3
  • 7
    • 67650383819 scopus 로고    scopus 로고
    • Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.
    • Niessen RC, Hofstra RM, Westers H et al. Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome. Genes Chromosomes Cancer 2009: 48 (8): 737-744.
    • (2009) Genes Chromosomes Cancer , vol.48 , Issue.8 , pp. 737-744
    • Niessen, R.C.1    Hofstra, R.M.2    Westers, H.3
  • 8
    • 78650692633 scopus 로고    scopus 로고
    • Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study.
    • Kempers MJ, Kuiper RP, Ockeloen CW et al. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol 2011: 12 (1): 49-55.
    • (2011) Lancet Oncol , vol.12 , Issue.1 , pp. 49-55
    • Kempers, M.J.1    Kuiper, R.P.2    Ockeloen, C.W.3
  • 9
    • 59749085710 scopus 로고    scopus 로고
    • Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome.
    • Kovacs ME, Papp J, Szentirmay Z, Otto S, Olah E. Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Hum Mutat 2009: 30 (2): 197-203.
    • (2009) Hum Mutat , vol.30 , Issue.2 , pp. 197-203
    • Kovacs, M.E.1    Papp, J.2    Szentirmay, Z.3    Otto, S.4    Olah, E.5
  • 10
    • 0037099602 scopus 로고    scopus 로고
    • A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor.
    • Gazzoli I, Loda M, Garber J, Syngal S, Kolodner RD. A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor. Cancer Res 2002: 62 (14): 3925-3928.
    • (2002) Cancer Res , vol.62 , Issue.14 , pp. 3925-3928
    • Gazzoli, I.1    Loda, M.2    Garber, J.3    Syngal, S.4    Kolodner, R.D.5
  • 11
    • 10744230172 scopus 로고    scopus 로고
    • Extensive but hemiallelic methylation of the hMLH1 promoter region in early-onset sporadic colon cancers with microsatellite instability.
    • Miyakura Y, Sugano K, Akasu T et al. Extensive but hemiallelic methylation of the hMLH1 promoter region in early-onset sporadic colon cancers with microsatellite instability. Clin Gastroenterol Hepatol 2004: 2 (2): 147-156.
    • (2004) Clin Gastroenterol Hepatol , vol.2 , Issue.2 , pp. 147-156
    • Miyakura, Y.1    Sugano, K.2    Akasu, T.3
  • 12
    • 2442424419 scopus 로고    scopus 로고
    • Germline epimutation of MLH1 in individuals with multiple cancers.
    • Suter CM, Martin DI, Ward RL. Germline epimutation of MLH1 in individuals with multiple cancers. Nat Genet 2004: 36 (5): 497-501.
    • (2004) Nat Genet , vol.36 , Issue.5 , pp. 497-501
    • Suter, C.M.1    Martin, D.I.2    Ward, R.L.3
  • 13
    • 27744447434 scopus 로고    scopus 로고
    • MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer.
    • Hitchins M, Williams R, Cheong K et al. MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. Gastroenterology 2005: 129 (5): 1392-1399.
    • (2005) Gastroenterology , vol.129 , Issue.5 , pp. 1392-1399
    • Hitchins, M.1    Williams, R.2    Cheong, K.3
  • 14
    • 33846973361 scopus 로고    scopus 로고
    • Inheritance of a cancer-associated MLH1 germ-line epimutation.
    • Hitchins MP, Wong JJ, Suthers G et al. Inheritance of a cancer-associated MLH1 germ-line epimutation. N Engl J Med 2007: 356 (7): 697-705.
    • (2007) N Engl J Med , vol.356 , Issue.7 , pp. 697-705
    • Hitchins, M.P.1    Wong, J.J.2    Suthers, G.3
  • 15
    • 33847259206 scopus 로고    scopus 로고
    • MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer.
    • Valle L, Carbonell P, Fernandez V et al. MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer. Clin Genet 2007: 71 (3): 232-237.
    • (2007) Clin Genet , vol.71 , Issue.3 , pp. 232-237
    • Valle, L.1    Carbonell, P.2    Fernandez, V.3
  • 16
    • 45749135888 scopus 로고    scopus 로고
    • Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC.
    • Morak M, Schackert HK, Rahner N et al. 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.
    • (2008) Eur J Hum Genet , vol.16 , Issue.7 , pp. 804-811
    • Morak, M.1    Schackert, H.K.2    Rahner, N.3
  • 17
    • 64249108224 scopus 로고    scopus 로고
    • Large genomic rearrangements and germline epimutations in Lynch syndrome.
    • Gylling A, Ridanpaa M, Vierimaa O et al. Large genomic rearrangements and germline epimutations in Lynch syndrome. Int J Cancer 2009: 124 (10): 2333-2340.
    • (2009) Int J Cancer , vol.124 , Issue.10 , pp. 2333-2340
    • Gylling, A.1    Ridanpaa, M.2    Vierimaa, O.3
  • 18
    • 63449141241 scopus 로고    scopus 로고
    • MLH1 promoter germline-methylation in selected probands of Chinese hereditary non-polyposis colorectal cancer families.
    • Zhou HH, Yan SY, Zhou XY et al. MLH1 promoter germline-methylation in selected probands of Chinese hereditary non-polyposis colorectal cancer families. World J Gastroenterol 2008: 14 (48): 7329-7334.
    • (2008) World J Gastroenterol , vol.14 , Issue.48 , pp. 7329-7334
    • Zhou, H.H.1    Yan, S.Y.2    Zhou, X.Y.3
  • 19
    • 77951844096 scopus 로고    scopus 로고
    • Early onset MSI-H colon cancer with MLH1 promoter methylation, is there a genetic predisposition?
    • van Roon EH, van Puijenbroek M, Middeldorp A et al. Early onset MSI-H colon cancer with MLH1 promoter methylation, is there a genetic predisposition? BMC Cancer 2010: 10: 180.
    • (2010) BMC Cancer , vol.10 , pp. 180
    • van Roon, E.H.1    van Puijenbroek, M.2    Middeldorp, A.3
  • 20
    • 78650599981 scopus 로고    scopus 로고
    • De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one.
    • Goel A, Nguyen TP, Leung HC et al. De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one. Int J Cancer 2011: 128 (4): 869-878.
    • (2011) Int J Cancer , vol.128 , Issue.4 , pp. 869-878
    • Goel, A.1    Nguyen, T.P.2    Leung, H.C.3
  • 21
    • 35649021295 scopus 로고    scopus 로고
    • Erasure of MLH1 methylation in spermatozoa-implications for epigenetic inheritance.
    • Hitchins MP, Ward RL. Erasure of MLH1 methylation in spermatozoa-implications for epigenetic inheritance. Nat Genet 2007: 39 (11): 1289.
    • (2007) Nat Genet , vol.39 , Issue.11 , pp. 1289
    • Hitchins, M.P.1    Ward, R.L.2
  • 22
    • 10744233937 scopus 로고    scopus 로고
    • Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.
    • Umar A, Boland CR, Terdiman JP et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004: 96 (4): 261-268.
    • (2004) J Natl Cancer Inst , vol.96 , Issue.4 , pp. 261-268
    • Umar, A.1    Boland, C.R.2    Terdiman, J.P.3
  • 23
    • 0035710246 scopus 로고    scopus 로고
    • DNA methylation analysis by MethyLight technology.
    • Trinh BN, Long TI, Laird PW. DNA methylation analysis by MethyLight technology. Methods 2001: 25 (4): 456-462.
    • (2001) Methods , vol.25 , Issue.4 , pp. 456-462
    • Trinh, B.N.1    Long, T.I.2    Laird, P.W.3
  • 24
    • 0034654669 scopus 로고    scopus 로고
    • MethyLight: a high-throughput assay to measure DNA methylation.
    • Eads CA, Danenberg KD, Kawakami K et al. MethyLight: a high-throughput assay to measure DNA methylation. Nucleic Acids Res 2000: 28 (8): E32.
    • (2000) Nucleic Acids Res , vol.28 , Issue.8
    • Eads, C.A.1    Danenberg, K.D.2    Kawakami, K.3


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