메뉴 건너뛰기




Volumn 124, Issue 5, 2009, Pages 1097-1102

Population-based detection of lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test

Author keywords

BRAF; Colorectal cancer; HNPCC; Microsatellite instability

Indexed keywords

B RAF KINASE; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

EID: 58749101712     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.23863     Document Type: Article
Times cited : (67)

References (35)
  • 3
    • 0027285475 scopus 로고
    • Ubiquitous somatic mutations in simple repeated sequences reveals a new mechanism for colonic carcinogenesis
    • Tonov Y, Peinado MA, Malkliosyan S, Shibata D, Perucho M. Ubiquitous somatic mutations in simple repeated sequences reveals a new mechanism for colonic carcinogenesis. Nature 1993:363: 558-61.
    • (1993) Nature , vol.363 , pp. 558-561
    • Tonov, Y.1    Peinado, M.A.2    Malkliosyan, S.3    Shibata, D.4    Perucho, M.5
  • 4
    • 12244278227 scopus 로고    scopus 로고
    • Correlation of mismatch repair gene immunohistochemis-try and microsatellite instability status in HNPCC-associated tumours
    • Ruszkiewicz A, Bennett G, Moore J, Manavis J, Rudzki B, Shen L, Suthers G. Correlation of mismatch repair gene immunohistochemis-try and microsatellite instability status in HNPCC-associated tumours. Pathology 2002;34:541-7.
    • (2002) Pathology , vol.34 , pp. 541-547
    • Ruszkiewicz, A.1    Bennett, G.2    Moore, J.3    Manavis, J.4    Rudzki, B.5    Shen, L.6    Suthers, G.7
  • 5
    • 34548765471 scopus 로고    scopus 로고
    • Heterogeneous staining for mismatch repair proteins during population-based prescreening for hereditary nonpolyposis colorectal cancer
    • Watson N, Grieu F, Morris M, Harvey J, Stewart C, Schofield L, Goldblatt J, Iacopetta B. Heterogeneous staining for mismatch repair proteins during population-based prescreening for hereditary nonpolyposis colorectal cancer. J Mol Diagn 2007;9:472-8.
    • (2007) J Mol Diagn , vol.9 , pp. 472-478
    • Watson, N.1    Grieu, F.2    Morris, M.3    Harvey, J.4    Stewart, C.5    Schofield, L.6    Goldblatt, J.7    Iacopetta, B.8
  • 6
    • 0031017268 scopus 로고    scopus 로고
    • Methylation of the hMLHl promoter correlates with lack of expression of hMLHl 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, Kolodner R. Methylation of the hMLHl promoter correlates with lack of expression of hMLHl in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res 1997;57:808-11.
    • (1997) Cancer Res , vol.57 , 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
  • 7
    • 1642535480 scopus 로고    scopus 로고
    • BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer
    • Deng G, Bell I, Crawley S, Gum J, Terdiman JP, Allen BA, Truta B, Sleisenger MH, Kim YS. BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer. Clin Cancer Res 2004; 10:191-5.
    • (2004) Clin Cancer Res , vol.10 , pp. 191-195
    • Deng, G.1    Bell, I.2    Crawley, S.3    Gum, J.4    Terdiman, J.P.5    Allen, B.A.6    Truta, B.7    Sleisenger, M.H.8    Kim, Y.S.9
  • 11
    • 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; 116:1453-6.
    • (1999) Gastroenterology , vol.116 , pp. 1453-1456
    • Vasen, H.F.1    Watson, P.2    Mecklin, J.P.3    Lynch, H.T.4
  • 12
    • 10744233937 scopus 로고    scopus 로고
    • Umar A, Boiand CR, Terdiman JP, Syngal S, de la Chapelle A, Rüschoff I, Fishel R, Under KM, Burgart LJ, Hamelin R, Hamilton SR. Hiatt RA, et al. Revised Bethesda guidelines for hereditary non-polyposis colorectal cancer (Lynch syndrome) and microsatellite instabilitv. J Natl Cancer Inst 2004;96:261-8.
    • Umar A, Boiand CR, Terdiman JP, Syngal S, de la Chapelle A, Rüschoff I, Fishel R, Under KM, Burgart LJ, Hamelin R, Hamilton SR. Hiatt RA, et al. Revised Bethesda guidelines for hereditary non-polyposis colorectal cancer (Lynch syndrome) and microsatellite instabilitv. J Natl Cancer Inst 2004;96:261-8.
  • 13
    • 0348108292 scopus 로고    scopus 로고
    • Hereditary nonpolyposis colorectal carcinoma (HNPCC) and HNPCC-like families: Problems in diagnosis, surveillance, and management
    • Lynch HT, Riley BD, Weissman SM, Coronel SM, Kinarsky Y, Lynch JF, Shaw TG, Rubinstein WS. Hereditary nonpolyposis colorectal carcinoma (HNPCC) and HNPCC-like families: problems in diagnosis, surveillance, and management. Cancer 2004; 100:53-64.
    • (2004) Cancer , vol.100 , pp. 53-64
    • Lynch, H.T.1    Riley, B.D.2    Weissman, S.M.3    Coronel, S.M.4    Kinarsky, Y.5    Lynch, J.F.6    Shaw, T.G.7    Rubinstein, W.S.8
  • 14
    • 23244455418 scopus 로고    scopus 로고
    • It is time to get serious about diagnosing Lynch syndrome (hereditary nonpolyposis colorectal cancer with defective DNA mismatch repair) in the general population
    • Terdiman JP. It is time to get serious about diagnosing Lynch syndrome (hereditary nonpolyposis colorectal cancer with defective DNA mismatch repair) in the general population. Gastroenterology 2005;129:741-4.
    • (2005) Gastroenterology , vol.129 , pp. 741-744
    • Terdiman, J.P.1
  • 15
    • 1842477266 scopus 로고    scopus 로고
    • Current clinical selection strategies for identification of hereditary non-polyposis colorectal cancer families are inadequate: A meta-analysis
    • Kievit W, de Bruin JH, Adang EM, Ligtenberg MJ, Nagengast FM, van Krieken JH, Hoogerbrugge N. Current clinical selection strategies for identification of hereditary non-polyposis colorectal cancer families are inadequate: a meta-analysis. Clin Genet 2004;65:308-16.
    • (2004) Clin Genet , vol.65 , pp. 308-316
    • Kievit, W.1    de Bruin, J.H.2    Adang, E.M.3    Ligtenberg, M.J.4    Nagengast, F.M.5    van Krieken, J.H.6    Hoogerbrugge, N.7
  • 17
    • 4444328981 scopus 로고    scopus 로고
    • Physician assessment of family cancer history and referral for genetic evaluation in colorectal cancer patients
    • Grover S, Stoffel EM, Bussone L, Tschoegl E, Syngal S. Physician assessment of family cancer history and referral for genetic evaluation in colorectal cancer patients. Clin Gastroenterol Hepatol 2004:2: 813-19.
    • (2004) Clin Gastroenterol Hepatol , vol.2 , pp. 813-819
    • Grover, S.1    Stoffel, E.M.2    Bussone, L.3    Tschoegl, E.4    Syngal, S.5
  • 18
    • 20244386395 scopus 로고    scopus 로고
    • Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer
    • Piñol V, Castells A, Andreu M, Castellví-Bel S, Alenda C, Llor X, Xicola RM, Rodriguez-Moranta F, Payá A, Jover R, Bessa X. Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 2005;293: 1986-94.
    • (2005) JAMA , vol.293 , pp. 1986-1994
    • Piñol, V.1    Castells, A.2    Andreu, M.3    Castellví-Bel, S.4    Alenda, C.5    Llor, X.6    Xicola, R.M.7    Rodriguez-Moranta, F.8    Payá, A.9    Jover, R.10    Bessa, X.11
  • 19
    • 42049113883 scopus 로고    scopus 로고
    • Value of database linkage: Are patients at risk of familial colorectal cancer being referred for genetic counselling and testing?
    • Wong C, Gibbs P, Johns J, Jones I, Faragher I, Lynch E, Macrae F, Lipton L. Value of database linkage: are patients at risk of familial colorectal cancer being referred for genetic counselling and testing? Intern Med J 2008;38:328-33.
    • (2008) Intern Med J , vol.38 , pp. 328-333
    • Wong, C.1    Gibbs, P.2    Johns, J.3    Jones, I.4    Faragher, I.5    Lynch, E.6    Macrae, F.7    Lipton, L.8
  • 21
    • 0003657890 scopus 로고    scopus 로고
    • Cancer incidence and mortality in Western Australia, 2006
    • Perth, Western Australia, ISSN: 0816-2999, Number
    • Threlfall T, Thompson J. Cancer incidence and mortality in Western Australia, 2006. Department of Health, Perth, Western Australia. (ISSN: 0816-2999) Statistical Series Number 82. 2007 (http:// www.health.wa.gov.au/ wacr/).
    • (2007) Statistical Series , vol.82
    • Threlfall, T.1    Thompson, J.2
  • 22
    • 33846647509 scopus 로고    scopus 로고
    • Waiver of individual patient consent in research: When do potential benefits to the community outweigh private rights?
    • Zeps N, Iacopetta BJ, Sehofield L, George J, Goldblatt I. Waiver of individual patient consent in research: when do potential benefits to the community outweigh private rights? Med J Aust 2007; 186:88-90.
    • (2007) Med J Aust , vol.186 , pp. 88-90
    • Zeps, N.1    Iacopetta, B.J.2    Sehofield, L.3    George, J.4    Goldblatt, I.5
  • 23
    • 0034097225 scopus 로고    scopus 로고
    • Routine detection of the replication error pheno-type in clinical tumor specimens using fluorescence-SSCP
    • Tacopetta B, Grieu F. Routine detection of the replication error pheno-type in clinical tumor specimens using fluorescence-SSCP. Bioteehni-ques 2000;28:566-70.
    • (2000) Bioteehni-ques , vol.28 , pp. 566-570
    • Tacopetta, B.1    Grieu, F.2
  • 24
    • 32044455746 scopus 로고    scopus 로고
    • BRAF mutations are associated with distinctive clinical, pathological and molecular features of colorectal cancer independently of microsatellite instability status
    • Li WQ, Kawakami K, Ruszkiewicz A, Bennett G, Moore J, lacopetta B. BRAF mutations are associated with distinctive clinical, pathological and molecular features of colorectal cancer independently of microsatellite instability status. Mol Cancer 2006:5:2.
    • (2006) Mol Cancer , vol.5 , pp. 2
    • Li, W.Q.1    Kawakami, K.2    Ruszkiewicz, A.3    Bennett, G.4    Moore, J.5    lacopetta, B.6
  • 25
    • 0034129240 scopus 로고    scopus 로고
    • Salovaara R, Loukola A, Kristo P, Kääriäinen H, Ahtola H, Eskelinen M, Hadie;rkodie;nen N, Julkunen R, Kangas E, Ojala S, Tulikoura J, Val-kamo E, et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol 2000;18:2193-200.
    • Salovaara R, Loukola A, Kristo P, Kääriäinen H, Ahtola H, Eskelinen M, Hadie;rkodie;nen N, Julkunen R, Kangas E, Ojala S, Tulikoura J, Val-kamo E, et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol 2000;18:2193-200.
  • 29
    • 0036136726 scopus 로고    scopus 로고
    • Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients
    • Katballe N, Christensen M, Wikman FP, Ørntoft TF, Laurberg S. Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients. Gut. 2002;50:43-51.
    • (2002) Gut , vol.50 , pp. 43-51
    • Katballe, N.1    Christensen, M.2    Wikman, F.P.3    Ørntoft, T.F.4    Laurberg, S.5
  • 30
    • 34547735646 scopus 로고    scopus 로고
    • A population-based study of age-related variation in clinicopathological features, molecular markers and outcome from colorectal cancer
    • Morris M, Platell C, lacopetta B. A population-based study of age-related variation in clinicopathological features, molecular markers and outcome from colorectal cancer. Anticancer Res 2007;27:2833-8.
    • (2007) Anticancer Res , vol.27 , pp. 2833-2838
    • Morris, M.1    Platell, C.2    lacopetta, B.3
  • 31
    • 0037168207 scopus 로고    scopus 로고
    • Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers
    • Yuen ST, Chan TL, Ho JW, Chan AS, Chung LP, Lam PW, Tse CW, Wyllie AH, Leung SY. Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers. Oncogene 2002;21:7585-92.
    • (2002) Oncogene , vol.21 , pp. 7585-7592
    • Yuen, S.T.1    Chan, T.L.2    Ho, J.W.3    Chan, A.S.4    Chung, L.P.5    Lam, P.W.6    Tse, C.W.7    Wyllie, A.H.8    Leung, S.Y.9
  • 33
    • 11144279281 scopus 로고    scopus 로고
    • Value of iramunohistocheraical detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasms
    • Shia J, Klimstra DS, Nafa K, Offit K, Guillera JG, Markowitz AJ, Gerald WL, Ellis NA. Value of iramunohistocheraical detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasms. Am J Surg Pathol 2005;29:96-104.
    • (2005) Am J Surg Pathol , vol.29 , pp. 96-104
    • Shia, J.1    Klimstra, D.S.2    Nafa, K.3    Offit, K.4    Guillera, J.G.5    Markowitz, A.J.6    Gerald, W.L.7    Ellis, N.A.8
  • 34
    • 0037096801 scopus 로고    scopus 로고
    • Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families
    • Wahlberg SS, Schmeits J, Thomas G, Loda M, Garber I, Syngal S, Kolodner RD, Fox E. Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families. Cancer Res 2002:62:3485-92.
    • (2002) Cancer Res , vol.62 , pp. 3485-3492
    • Wahlberg, S.S.1    Schmeits, J.2    Thomas, G.3    Loda, M.4    Garber, I.5    Syngal, S.6    Kolodner, R.D.7    Fox, E.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.