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Volumn 19, Issue 9, 2013, Pages 2280-2282

Classifying MMR variants: Time for revised nomenclature in Lynch syndrome

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROTEIN MLH1;

EID: 84877091276     PISSN: 10780432     EISSN: 15573265     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-13-0392     Document Type: Article
Times cited : (10)

References (12)
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    • Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch Syndrome diagnosis
    • Hinrichsen I, Brieger A, Trojan J, Zeuzem S, Nilbert M, Plotz G. Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch Syndrome diagnosis. Clin Cancer Res 2013;19:2432-41.
    • (2013) Clin Cancer Res , vol.19 , pp. 2432-2441
    • Hinrichsen, I.1    Brieger, A.2    Trojan, J.3    Zeuzem, S.4    Nilbert, M.5    Plotz, G.6
  • 2
    • 55549101314 scopus 로고    scopus 로고
    • Sequence variant classification and reporting: Recommendations for improving the interpretation of cancer susceptibility genetic test results
    • Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 2008;29:1282-91.
    • (2008) Hum Mutat , vol.29 , pp. 1282-1291
    • Plon, S.E.1    Eccles, D.M.2    Easton, D.3    Foulkes, W.D.4    Genuardi, M.5    Greenblatt, M.S.6
  • 3
    • 0033591855 scopus 로고    scopus 로고
    • Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: Implications for clinical predisposition testing
    • DOI 10.1001/jama.282.3.247
    • Syngal S, Fox EA, Li C, Dovidio M, Eng C, Kolodner RD, et al. Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing. JAMA 1999;282:247-53. (Pubitemid 29343167)
    • (1999) Journal of the American Medical Association , vol.282 , Issue.3 , pp. 247-253
    • Syngal, S.1    Fox, E.A.2    Li, C.3    Dovidio, M.4    Eng, C.5    Kolodner, R.D.6    Garber, J.E.7
  • 4
    • 77953614990 scopus 로고    scopus 로고
    • Clinical relevance of rare germline sequence variants in cancer genes: Evolution and application of classification models
    • Spurdle AB. Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models. Curr Opin Genet Dev 2010;20:315-23.
    • (2010) Curr Opin Genet Dev , vol.20 , pp. 315-323
    • Spurdle, A.B.1
  • 5
    • 84871613264 scopus 로고    scopus 로고
    • A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: A report from the Colon Cancer Family Registry
    • Thompson BA, Goldgar DE, Paterson C, Clendenning M, Walters R, Arnold S, et al. A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. Hum Mutat 2013;34:200-9.
    • (2013) Hum Mutat , vol.34 , pp. 200-209
    • Thompson, B.A.1    Goldgar, D.E.2    Paterson, C.3    Clendenning, M.4    Walters, R.5    Arnold, S.6
  • 6
    • 84867456662 scopus 로고    scopus 로고
    • Comprehensive functional assessment of MLH1 variants of unknown significance
    • Borras E, Pineda M, Brieger A, Hinrichsen I, Gomez C, Navarro M, et al. Comprehensive functional assessment of MLH1 variants of unknown significance. Hum Mutat 2012;33:1576-88.
    • (2012) Hum Mutat , vol.33 , pp. 1576-1588
    • Borras, E.1    Pineda, M.2    Brieger, A.3    Hinrichsen, I.4    Gomez, C.5    Navarro, M.6
  • 8
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    • The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)
    • Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991;34:424-5.
    • (1991) Dis Colon Rectum , vol.34 , pp. 424-425
    • Vasen, H.F.1    Mecklin, J.P.2    Khan, P.M.3    Lynch, H.T.4
  • 11
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    • Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing Lynch syndrome in a large academic medical center
    • Heald B, Plesec T, Liu X, Pai R, Patil D, Moline J, et al. Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing Lynch syndrome in a large academic medical center. J Clin Oncol 2013;31:1336-40.
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    • Heald, B.1    Plesec, T.2    Liu, X.3    Pai, R.4    Patil, D.5    Moline, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.