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Volumn 21, Issue 1, 2013, Pages 118-

Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM)-update 2012

Author keywords

[No Author keywords available]

Indexed keywords

EPITHELIAL CELL ADHESION MOLECULE; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; ADENOSINE TRIPHOSPHATASE; CELL ADHESION MOLECULE; DNA BINDING PROTEIN; EPCAM PROTEIN, HUMAN; G T MISMATCH BINDING PROTEIN; G-T MISMATCH-BINDING PROTEIN; MLH1 PROTEIN, HUMAN; MSH2 PROTEIN, HUMAN; NUCLEAR PROTEIN; PMS2 PROTEIN, HUMAN; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TUMOR ANTIGEN;

EID: 84871255933     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.164     Document Type: Article
Times cited : (12)

References (19)
  • 1
    • 0033063711 scopus 로고    scopus 로고
    • New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC
    • Vasen HF, Watson P, Mecklin JP, Lynch HT: New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 1999; 116: 1453-1456.
    • (1999) Gastroenterology , vol.116 , pp. 1453-1456
    • Vasen, H.F.1    Watson, P.2    Mecklin, J.P.3    Lynch, H.T.4
  • 2
    • 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: 261-268.
    • (2004) J Natl Cancer Inst , vol.96 , pp. 261-268
    • Umar, A.1    Boland, C.R.2    Terdiman, J.P.3
  • 3
    • 34547405167 scopus 로고    scopus 로고
    • Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer
    • Loughrey MB, Waring PM, Tan A et al: Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer. Fam Cancer 2007; 6: 301-310.
    • (2007) Fam Cancer , vol.6 , pp. 301-310
    • Loughrey, M.B.1    Waring, P.M.2    Tan, A.3
  • 4
    • 47649123223 scopus 로고    scopus 로고
    • Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry
    • Shia J: Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. J Mol Diagn 2008; 10: 293-300.
    • (2008) J Mol Diagn , vol.10 , pp. 293-300
    • Shia, J.1
  • 5
    • 0032534069 scopus 로고    scopus 로고
    • A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer
    • Boland CR, Thibodeau SN, Hamilton SR et al: A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998; 58: 5248-5257.
    • (1998) Cancer Res , vol.58 , pp. 5248-5257
    • Boland, C.R.1    Thibodeau, S.N.2    Hamilton, S.R.3
  • 6
    • 1542345490 scopus 로고    scopus 로고
    • Microsatellite instability analysis and/or immunostaining for the diagnosis of hereditary nonpolyposis colorectal cancer?
    • Halvarsson B, Lindblom A, Rambech E, Lagerstedt K, Nilbert M: Microsatellite instability analysis and/or immunostaining for the diagnosis of hereditary nonpolyposis colorectal cancer? Virchows Arch 2004; 444: 135-141.
    • (2004) Virchows Arch , vol.444 , pp. 135-141
    • Halvarsson, B.1    Lindblom, A.2    Rambech, E.3    Lagerstedt, K.4    Nilbert, M.5
  • 7
    • 65349115326 scopus 로고    scopus 로고
    • Genetic testing in gastroenterology: Lynch syndrome
    • Grover S, Syngal S: Genetic testing in gastroenterology: Lynch syndrome. Best Pract Res Clin Gastroenterol 2009; 23: 185-196.
    • (2009) Best Pract Res Clin Gastroenterol , vol.23 , pp. 185-196
    • Grover, S.1    Syngal, S.2
  • 8
    • 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: 737-744.
    • (2009) Genes Chromosomes Cancer , vol.48 , pp. 737-744
    • Niessen, R.C.1    Hofstra, R.M.2    Westers, H.3
  • 9
    • 38949127061 scopus 로고    scopus 로고
    • RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference
    • Etzler J, Peyrl A, Zatkova A et al: RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference. Hum Mutat 2008; 29: 299-305.
    • (2008) Hum Mutat , vol.29 , pp. 299-305
    • Etzler, J.1    Peyrl, A.2    Zatkova, A.3
  • 10
    • 33751501011 scopus 로고    scopus 로고
    • Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in Germany
    • Lamberti C, Mangold E, Pagenstecher C et al: Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in Germany. Digestion 2006; 74: 58-67.
    • (2006) Digestion , vol.74 , pp. 58-67
    • Lamberti, C.1    Mangold, E.2    Pagenstecher, C.3
  • 11
    • 24144484905 scopus 로고    scopus 로고
    • The incidence of Lynch syndrome
    • de la Chapelle A: The incidence of Lynch syndrome. Fam Cancer 2005; 4: 233-237.
    • (2005) Fam Cancer , vol.4 , pp. 233-237
    • De La Chapelle, A.1
  • 12
    • 84856117692 scopus 로고    scopus 로고
    • Evaluation of predictive models in daily practice for the identification of patients with Lynch syndrome
    • Tresallet C, Brouquet A, Julié C et al: Evaluation of predictive models in daily practice for the identification of patients with Lynch syndrome. Int J Cancer 2012; 130: 1367-1377.
    • (2012) Int J Cancer , vol.130 , pp. 1367-1377
    • Tresallet, C.1    Brouquet, A.2    Julié, C.3
  • 13
    • 34250715384 scopus 로고    scopus 로고
    • Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)
    • Vasen HF, Möslein G, Alonso A et al: Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet 2007; 44: 353-362.
    • (2007) J Med Genet , vol.44 , pp. 353-362
    • Vasen, H.F.1    Möslein, G.2    Alonso, A.3
  • 14
    • 83955161674 scopus 로고    scopus 로고
    • Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: An analysis from the CAPP2 randomised controlled trial
    • Burn J, Gerdes AM, Macrae F et al: Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet 2011; 378: 2081-2087.
    • (2011) Lancet , vol.378 , pp. 2081-2087
    • Burn, J.1    Gerdes, A.M.2    MacRae, F.3
  • 15
    • 14544300998 scopus 로고    scopus 로고
    • Systematic review of microsatellite instability and colorectal cancer prognosis
    • Popat S, Hubner R, Houlston RS: Systematic review of microsatellite instability and colorectal cancer prognosis. J Clin Oncol 2005; 23: 609-618.
    • (2005) J Clin Oncol , vol.23 , pp. 609-618
    • Popat, S.1    Hubner, R.2    Houlston, R.S.3
  • 16
    • 30944457531 scopus 로고    scopus 로고
    • Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome
    • Schmeler KM, Lynch HT, Chen LM et al: Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 2006; 354: 261-269.
    • (2006) N Engl J Med , vol.354 , pp. 261-269
    • Schmeler, K.M.1    Lynch, H.T.2    Chen, L.M.3
  • 18
    • 70350090521 scopus 로고    scopus 로고
    • Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome
    • Stoffel E, Mukherjee B, Raymond VM et al: Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology 2009; 137: 1621-1627.
    • (2009) Gastroenterology , vol.137 , pp. 1621-1627
    • Stoffel, E.1    Mukherjee, B.2    Raymond, V.M.3
  • 19
    • 0033803789 scopus 로고    scopus 로고
    • Prognostic value of deletion analysis: What is the clinical prognostic value of y chromosome microdeletion analysis?
    • Krausz C, Quintana-Murci L, McElreavey K: Prognostic value of deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis? Hum Reprod 2000; 15: 1431-1434.
    • (2000) Hum Reprod , vol.15 , pp. 1431-1434
    • Krausz, C.1    Quintana-Murci, L.2    McElreavey, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.