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错配修复基因缺陷检测在大肠癌诊治中的应用及意义 被引量:4

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摘要 结直肠癌(colorectal cancer,CRC)是我国常见的恶性肿瘤。近年来我国结直肠癌的发病率逐年增加,目前已跃居第3-5位,特别是在大城市增幅更快。错配修复基因(DNA mismatch repair,MMR)系统(主要包括MLHl、MSH2、MSH6和PMS2)对维持基因组的稳定性、完整性,避免遗传突变发生具有重要作用。MMR种系基因突变可导致错配修复功能缺陷,引起遗传性非息肉病性大肠癌(hereditary nonpolyposis eolorectal cancer,HNPCC),发病率占全部大肠癌的5%-15%。hMLHl基因启动子超甲基化导致基因表达沉默,可引起散发性大肠癌的发生,发病率约占全部大肠癌的15%。
作者 王芬 盛剑秋
出处 《实用肿瘤杂志》 CAS 2013年第3期229-232,共4页 Journal of Practical Oncology
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  • 1Shan-RunLiu BoZhao Zhen-JunWang Yuan-LianWan Yan-TingHuang.Clinical features and mismatch repair gene mutation screening in Chinese patients with hereditary nonpolyposis colorectal carcinoma[J].World Journal of Gastroenterology,2004,10(18):2647-2651. 被引量:19
  • 2张渊智,盛剑秋,李世荣,武子涛.中国部分地区结直肠癌遗传易感性与遗传性非息肉病性结直肠癌流行状况分析[J].中华医学杂志,2005,85(42):2995-3000. 被引量:12
  • 3Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomki P, Chadwick RB, K?riinen H, Eskelinen M, Jrvinen H, Mecklin JP, de la Chapelle A. Incidence of he- reditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 1998; 338: 1481-1487. 被引量:1
  • 4Salovaara R, Loukola A, Kristo P, K?riinen H, Ahtola H, Eskelinen M, Hrknen N, Julkunen R, Kangas E, Ojala S, Tulikoura J, Valkamo E, Jrvinen H, Mecklin JP, Aaltonen LA, de la Chapelle A. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol 2000; 18: 2193-2200. 被引量:1
  • 5Goh KL, Quek KF, Yeo GT, Hilmi IN, Lee CK, Hasnida N, Aznan M, Kwan KL, Ong KT. Colorectal cancer in Asians: a demographic and anatomic survey in Malaysian patients undergoing colonoscopy. Aliment Pharmacol Ther 2005; 22: 859-864. 被引量:1
  • 6Lawes DA, SenGupta SB, Boulos PB. Pathogenesis and clinical management of hereditary non-polyposis colorectal cancer. Br J Surg 2002; 89: 1357-1369. 被引量:1
  • 7Dionigi G, Bianchi V, Rovera F, Boni L, Annoni M, Cas- tano P, Villa F, Dionigi R. Genetic alteration in hereditary colorectal cancer. Surg Oncol 2007; 16 Suppl 1: S11-S15. 被引量:1
  • 8Lagerstedt Robinson K, Liu T, Vandrovcova J, Halvarsson B, Clendenning M, Frebourg T, Papadopoulos N, Kinzler KW, Vogelstein B, Peltomki P, Kolodner RD, Nilbert M, Lindb- lom A. Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. J Natl Cancer Inst 2007; 99: 291-299. 被引量:1
  • 9Jacob S, Praz F. DNA mismatch repair defects: role in colorectal carcinogenesis. Biochimie 2002; 84: 27-47. 被引量:1
  • 10Miyaki M, Konishi M, Tanaka K, Kikuchi-Yanoshita R, Muraoka M, Yasuno M, Igari T, Koike M, Chiba M, Mori T. Germline mutation of MSH6 gene as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 1997; 17: 271-272. 被引量:1

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  • 1I Liu B, Parsons R E, Hamilton S R, et al. hMSH2 mutations inhereditary nonpolyposis eoloreetal cancer kindreds.Cancer Res, 1994,54:4590. 被引量:1
  • 2Pooja M, Mumtaz A et al. Promoter methylation and immunohistochem- ical expre-ssion of hMLH1 and hMSH2 in sporadic colorectal cancer:a study from India [J]. Tumor Biol. (2014)35:3679-3687. 被引量:1
  • 3Xia L,Xiaoping Y et al. MLH1 Promoter Methylation Frequency in Colorectal" Cancer Patients and Related Clinicopathological and Molecular Features [J]. PLOS ONE, 2013,8(3) : e59064. 被引量:1
  • 4Press MF,Finn RS. Cameron D,et al. HER-2 gene amplifiestion, HER-2 mid epidermal growth factor receptor mRNA and protein ex- pression, and lapatinib efficacy in women with metastaticbreast can-cer [J]. Clin Cancer Res, 2008,14(23) : 7861-7870. 被引量:1
  • 5Jesus EC, Matos D, Artigiani R, et II L Assessment of staging, prognosis and mortality of colorectal cancer by tumor markers:receptor erbB-2 and cadher-ins [J]. Acta Cir Bras, 2005,20(6) : 422-427. 被引量:1
  • 6Kalodner RD, Hall N R, et al.Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colarectal carcinoma kin- dred for mlhl mutations [J]. Cancer Res, 1995,55 (2) : 242-248. 被引量:1
  • 7Liu B, Parsons R E, Hamilton S R, et al. hMSH2 mutations inhereditary nonpolyposis eoloreetal cancer kindreds.Cancer Res, 1994,54:4590. 被引量:1
  • 8Pooja M, Mumtaz A et al. Promoter methylation and immunohistochem- ical expre-ssion of hMLH1 and hMSH2 in sporadic colorectal cancer:a study from India [J]. Tumor Biol. (2014)35:3679-3687. 被引量:1
  • 9Xia L,Xiaoping Yet al. MLH1 Promoter Methylation Frequency in Colorectal" Cancer Patients and Related Clinicopathological and Molecular Features [J]. PLOS ONE, 2013,8(3) : e59064. 被引量:1
  • 10Press MF,Finn RS. Cameron D,et al. HER-2 gene amplifiestion, HER-2 mid epidermal growth factor receptor mRNA and protein ex- pression, and lapatinib efficacy in women with metastaticbreast can-cer [J]. Clin Cancer Res, 2008,14(23) : 7861-7870. 被引量:1

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