메뉴 건너뛰기




Volumn 41, Issue 3, 2012, Pages 793-797

Epimutation and cancer: A new carcinogenic mechanism of Lynch syndrome (Review)

Author keywords

Epimutation; Epithelial cell adhesion molecule; Human MutL homologue 1; Human MutS homologue 2; Lynch syndrome

Indexed keywords

BRCA1 ASSOCIATED RING DOMAIN PROTEIN 1; HOMEODOMAIN PROTEIN; PROTEIN MLH1; PROTEIN MSH2; SOMATOMEDIN B;

EID: 84865007337     PISSN: 10196439     EISSN: 17912423     Source Type: Journal    
DOI: 10.3892/ijo.2012.1528     Document Type: Review
Times cited : (42)

References (45)
  • 1
    • 0023279926 scopus 로고
    • The inheritance of epigenetic defects
    • Holliday R: The inheritance of epigenetic defects. Science 238: 163-170, 1987.
    • (1987) Science , vol.238 , pp. 163-170
    • Holliday, R.1
  • 2
    • 0028258413 scopus 로고
    • Variegated phenotype and developmental methylation changes of a maize allele originating from epimutation
    • Das OP and Messing J: Variegated phenotype and developmental methylation changes of a maize allele originating from epimutation. Genetics 136: 1121-1141, 1994. (Pubitemid 24085659)
    • (1994) Genetics , vol.136 , Issue.3 , pp. 1121-1141
    • Das, O.P.1    Messing, J.2
  • 6
    • 33847259206 scopus 로고    scopus 로고
    • MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer
    • DOI 10.1111/j.1399-0004.2007.00751.x
    • Valle L, Carbonell P, Fernandez V, Dotor AM, Sanz M, Benitez J and Urioste M: MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer. Clin Genet 71: 232-237, 2007. (Pubitemid 46322661)
    • (2007) Clinical Genetics , vol.71 , Issue.3 , pp. 232-237
    • Valle, L.1    Carbonell, P.2    Fernandez, V.3    Dotor, A.M.4    Sanz, M.5    Benitez, J.6    Urioste, M.7
  • 8
    • 35649021295 scopus 로고    scopus 로고
    • Erasure of MLH1 methylation in spermatozoa - Implications for epigenetic inheritance
    • DOI 10.1038/ng1107-1289, PII NG11071289
    • Hitchins MP and Ward RL: Erasure of MLH1 methylation in spermatozoa-implications for epigenetic inheritance. Nat Genet 39: 1289, 2007. (Pubitemid 350035008)
    • (2007) Nature Genetics , vol.39 , Issue.11 , pp. 1289
    • Hitchins, M.P.1    Ward, R.L.2
  • 11
    • 77950461601 scopus 로고    scopus 로고
    • Origins and functional impact of copy number variation in the human genome
    • Conrad DF, Pinto D, Redon R, et al: Origins and functional impact of copy number variation in the human genome. Nature 464: 704-712, 2010.
    • (2010) Nature , vol.464 , pp. 704-712
    • Conrad, D.F.1    Pinto, D.2    Redon, R.3
  • 12
    • 0038581890 scopus 로고    scopus 로고
    • Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease
    • DOI 10.1038/ng1157
    • Tufarelli C, Stanley JA, Garrick D, Sharpe JA, Ayyub H, Wood WG and Higgs DR: Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease. Nat Genet 34: 157-165, 2003. (Pubitemid 36666926)
    • (2003) Nature Genetics , vol.34 , Issue.2 , pp. 157-165
    • Tufarelli, C.1    Sloane, S.J.A.2    Garrick, D.3    Sharpe, J.A.4    Ayyub, H.5    Wood, W.G.6    Higgs, D.R.7
  • 13
    • 0022506980 scopus 로고
    • A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma
    • Friend SH, Bernards R, Rogelj S, Weinberg RA, Rapaport JM, Albert DM and Dryja TP: A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 323: 643-646, 1986. (Pubitemid 16008560)
    • (1986) Nature , vol.323 , Issue.6089 , pp. 643-646
    • Friend, S.H.1    Bernards, R.2    Rogelj, S.3
  • 16
    • 0024365892 scopus 로고
    • Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma
    • Greger V, Passarge E, Höpping W, Messmer E and Horsthemke B: Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma. Hum Genet 83: 155-158, 1989.
    • (1989) Hum Genet , vol.83 , pp. 155-158
    • Greger, V.1    Passarge, E.2    Höpping, W.3    Messmer, E.4    Horsthemke, B.5
  • 19
    • 0031017268 scopus 로고    scopus 로고
    • Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines
    • Kane MF, Loda M, Gaida GM, Lipman J, Mishra R, Goldman H, Jessup JM and Kolodner R: Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res 57: 808-811, 1997. (Pubitemid 27097998)
    • (1997) Cancer Research , vol.57 , Issue.5 , pp. 808-811
    • Kane, M.F.1    Loda, M.2    Gaida, G.M.3    Lipman, J.4    Mishra, R.5    Goldman, H.6    Jessup, J.M.7    Kolodner, R.8
  • 20
    • 70349471095 scopus 로고    scopus 로고
    • Methylation of the BRCA1 gene in sporadic breast cancer. Cancer Res 57: 3347-3350, 1997. 21. de la Chapelle A: Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci
    • Dobrovic A and Simpfendorfer D: Methylation of the BRCA1 gene in sporadic breast cancer. Cancer Res 57: 3347-3350, 1997. 21. de la Chapelle A: Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci. Oncogene 28: 3345-3348, 2009.
    • (2009) Oncogene , vol.28 , pp. 3345-3348
    • Dobrovic, A.1    Simpfendorfer, D.2
  • 22
    • 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 and 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 62: 3925-3928, 2002. (Pubitemid 34791053)
    • (2002) Cancer Research , vol.62 , Issue.14 , pp. 3925-3928
    • Gazzoli, I.1    Loda, M.2    Garber, J.3    Syngal, S.4    Kolodner, R.D.5
  • 23
    • 2442424419 scopus 로고    scopus 로고
    • Germline epimutation of MLH1 in individuals with multiple cancers
    • DOI 10.1038/ng1342
    • Suter CM, Martin DI and Ward RL: Germline epimutation of MLH1 in individuals with multiple cancers. Nat Genet 36: 497-501, 2004. (Pubitemid 38620035)
    • (2004) Nature Genetics , vol.36 , Issue.5 , pp. 497-501
    • Suter, C.M.1    Martin, D.I.K.2    Ward, R.L.3
  • 30
    • 0036020454 scopus 로고    scopus 로고
    • The pathology of inherited breast cancer
    • DOI 10.1080/00313020220147113
    • Armes JE and Venter DJ: The pathology of inherited breast cancer. Pathology 34: 309-314, 2002. (Pubitemid 34827990)
    • (2002) Pathology , vol.34 , Issue.4 , pp. 309-314
    • Armes, J.E.1    Venter, D.J.2
  • 31
    • 0036569877 scopus 로고    scopus 로고
    • The pathology of familial breast cancer: Predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2
    • DOI 10.1200/JCO.2002.09.023
    • Lakhani SR, Van De Vijver MJ, Jacquemier J, Anderson TJ, Osin PP, MaGuffog L and Easton DF: The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol 20: 2310-2318, 2002. (Pubitemid 34441658)
    • (2002) Journal of Clinical Oncology , vol.20 , Issue.9 , pp. 2310-2318
    • Lakhani, S.R.1    Van De, V.M.J.2    Jacquemier, J.3    Anderson, T.J.4    Osin, P.P.5    McGuffog, L.6    Easton, D.F.7
  • 34
    • 0036389638 scopus 로고    scopus 로고
    • BRCA1 methylation: A significant role in tumour development?
    • Catteau A and Morris JR: BRCA1 methylation: a significant role in tumour development? Semin Cancer Biol 12: 359-371, 2002.
    • (2002) Semin Cancer Biol , vol.12 , pp. 359-371
    • Catteau, A.1    Morris, J.R.2
  • 36
    • 44849114690 scopus 로고    scopus 로고
    • KConFab investigators, Loughrey MB and Dobrovic A: BRCA1 promoter methylation in peripheral blood DNA of mutation negative familial breast cancer patients with a BRCA1 tumour phenotype
    • Snell C, Krypuy M, Wong EM; kConFab investigators, Loughrey MB and Dobrovic A: BRCA1 promoter methylation in peripheral blood DNA of mutation negative familial breast cancer patients with a BRCA1 tumour phenotype. Breast Cancer Res 10: R12, 2008.
    • (2008) Breast Cancer Res , vol.10
    • Snell, C.1    Krypuy, M.2    Wong, E.M.3
  • 37
    • 57449097359 scopus 로고    scopus 로고
    • Feasibility of screening for Lynch syndrome among patients with colorectal cancer
    • Hampel H, Frankel WL, Martin E, et al: Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 26: 5783-5788, 2008.
    • (2008) J Clin Oncol , vol.26 , pp. 5783-5788
    • Hampel, H.1    Frankel, W.L.2    Martin, E.3
  • 38
    • 4544310802 scopus 로고    scopus 로고
    • Mutations associated with HNPCC predisposition - Update of ICG-HNPCC/INSiGHT mutation database
    • Lynch Syndrome (HNPCC) and Microsatellite Instability
    • Peltomäki P and Vasen H: Mutations associated with HNPCC predisposition - Update of ICG-HNPCC/INSiGHT mutation database. Dis Markers 20: 269-276, 2004. (Pubitemid 40164099)
    • (2004) Disease Markers , vol.20 , Issue.4-5 , pp. 269-276
    • Peltomaki, P.1    Vasen, H.2
  • 39
    • 33644858427 scopus 로고    scopus 로고
    • HNPCC registry and genetic testing project of the Japanese Society for Cancer of the Colon and Rectum (JSCCR): A novel germline mutation of MSH2 in a hereditary nonpolyposis colorectal cancer patient with liposarcoma
    • Hirata K, Kanemitsu S, Nakayama Y, Nagata N, Itoh H, Ohnishi H, Ishikawa H and Furukawa Y; HNPCC registry and genetic testing project of the Japanese Society for Cancer of the Colon and Rectum (JSCCR): A novel germline mutation of MSH2 in a hereditary nonpolyposis colorectal cancer patient with liposarcoma. Am J Gastroenterol 101: 193-196, 2006.
    • (2006) Am J Gastroenterol , vol.101 , pp. 193-196
    • Hirata, K.1    Kanemitsu, S.2    Nakayama, Y.3    Nagata, N.4    Itoh, H.5    Ohnishi, H.6    Ishikawa, H.7    Furukawa, Y.8
  • 40
    • 70449530502 scopus 로고    scopus 로고
    • Determination of splice-site mutations in Lynch syndrome (hereditary nonpolyposis colorectal cancer) patients using functional splicing assay
    • Naruse H, Ikawa N, Yamaguchi K, et al: Determination of splice-site mutations in Lynch syndrome (hereditary nonpolyposis colorectal cancer) patients using functional splicing assay. Fam Cancer 8: 509-517, 2009.
    • (2009) Fam Cancer , vol.8 , pp. 509-517
    • Naruse, H.1    Ikawa, N.2    Yamaguchi, K.3
  • 41
    • 0345275965 scopus 로고    scopus 로고
    • The Epithelial Cell Adhesion Molecule (Ep-CAM) as a Morphoregulatory Molecule Is a Tool in Surgical Pathology
    • Winter MJ, Nagtegaal ID, van Krieken JH and Litvinov SV: The epithelial cell adhesion molecule (Ep-CAM) as a morphoregulatory molecule is a tool in surgical pathology. Am J Pathol 163: 2139-2148, 2003. (Pubitemid 37466457)
    • (2003) American Journal of Pathology , vol.163 , Issue.6 , pp. 2139-2148
    • Winter, M.J.1    Nagtegaal, I.D.2    Van Krieken, J.H.J.M.3    Litvinov, S.V.4
  • 42
    • 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 41: 112-117, 2009.
    • (2009) Nat Genet , vol.41 , pp. 112-117
    • Ligtenberg, M.J.1    Kuiper, R.P.2    Chan, T.L.3
  • 44
    • 0028001087 scopus 로고
    • Methylation of the oestrogen receptor CpG island links ageing and neoplasia in human colon
    • DOI 10.1038/ng0894-536
    • Issa JP, Ottaviano YL, Celano P, Hamilton SR, Davidson NE and Baylin SB: Methylation of the oestrogen receptor CpG island links ageing and neoplasia in human colon. Nat Genet 7: 536-540, 1994. (Pubitemid 24308343)
    • (1994) Nature Genetics , vol.7 , Issue.4 , pp. 536-540
    • Issa, J.-P.J.1    Ottaviano, Y.L.2    Celano, P.3    Hamilton, S.R.4    Davidson, N.E.5    Baylin, S.B.6
  • 45
    • 70450178037 scopus 로고    scopus 로고
    • Hematology: Azacitidine improves survival in myelodysplastic syndromes
    • Rose MG: Hematology: azacitidine improves survival in myelodysplastic syndromes. Nat Rev Clin Oncol 6: 502-503, 2009.
    • (2009) Nat Rev Clin Oncol , vol.6 , pp. 502-503
    • Rose, M.G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.