메뉴 건너뛰기




Volumn 133, Issue 7, 2013, Pages 1624-1630

BRAF V600E-specific immunohistochemistry for the exclusion of Lynch syndrome in MSI-H colorectal cancer

Author keywords

BRAF V600E; colorectal cancer; hereditary nonpolyposis colorectal cancer; Lynch syndrome; microsatellite instability

Indexed keywords

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

EID: 84880265173     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.28183     Document Type: Article
Times cited : (106)

References (38)
  • 2
    • 20544467125 scopus 로고    scopus 로고
    • Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: Correction for ascertainment
    • Quehenberger F, Vasen HF, van Houwelingen HC,. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet 2005; 42: 491-6.
    • (2005) J Med Genet , vol.42 , pp. 491-496
    • Quehenberger, F.1    Vasen, H.F.2    Van Houwelingen, H.C.3
  • 3
    • 23244443650 scopus 로고    scopus 로고
    • Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: Later age of onset
    • Hampel H, Stephens JA, Pukkala E, et al. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology 2005; 129: 415-21.
    • (2005) Gastroenterology , vol.129 , pp. 415-421
    • Hampel, H.1    Stephens, J.A.2    Pukkala, E.3
  • 5
    • 0027314411 scopus 로고
    • Microsatellite instability in cancer of the proximal colon
    • Thibodeau SN, Bren G, Schaid D,. Microsatellite instability in cancer of the proximal colon. Science 1993; 260: 816-19.
    • (1993) Science , vol.260 , pp. 816-819
    • Thibodeau, S.N.1    Bren, G.2    Schaid, D.3
  • 6
    • 0027285475 scopus 로고
    • Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis
    • Ionov Y, Peinado MA, Malkhosyan S, et al. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 1993; 363: 558-61.
    • (1993) Nature , vol.363 , pp. 558-561
    • Ionov, Y.1    Peinado, M.A.2    Malkhosyan, S.3
  • 7
    • 0033991467 scopus 로고    scopus 로고
    • Microsatellite instability as a predictor of a mutation in a DNA mismatch repair gene in familial colorectal cancer
    • Liu T, Wahlberg S, Burek E, et al. Microsatellite instability as a predictor of a mutation in a DNA mismatch repair gene in familial colorectal cancer. Genes Chromosomes Cancer 2000; 27: 17-25.
    • (2000) Genes Chromosomes Cancer , vol.27 , pp. 17-25
    • Liu, T.1    Wahlberg, S.2    Burek, E.3
  • 8
    • 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: 5248-57.
    • (1998) Cancer Res , vol.58 , pp. 5248-5257
    • Boland, C.R.1    Thibodeau, S.N.2    Hamilton, S.R.3
  • 9
    • 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: 261-8.
    • (2004) J Natl Cancer Inst , vol.96 , pp. 261-268
    • Umar, A.1    Boland, C.R.2    Terdiman, J.P.3
  • 10
    • 33847794097 scopus 로고    scopus 로고
    • Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics
    • Lagerstedt Robinson K, Liu T, Vandrovcova J, et al. Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. J Natl Cancer Inst 2007; 99: 291-9.
    • (2007) J Natl Cancer Inst , vol.99 , pp. 291-299
    • Lagerstedt Robinson, K.1    Liu, T.2    Vandrovcova, J.3
  • 11
    • 0037083484 scopus 로고    scopus 로고
    • Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors
    • Lindor NM, Burgart LJ, Leontovich O, et al. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol 2002; 20: 1043-8.
    • (2002) J Clin Oncol , vol.20 , pp. 1043-1048
    • Lindor, N.M.1    Burgart, L.J.2    Leontovich, O.3
  • 12
    • 27944464473 scopus 로고    scopus 로고
    • German HNPCC Consortium. Novel strategy for optimal sequential application of clinical criteria, immunohistochemistry and microsatellite analysis in the diagnosis of hereditary nonpolyposis colorectal cancer
    • ;.
    • Engel C, Forberg J, Holinski-Feder E, et al.; German HNPCC Consortium. Novel strategy for optimal sequential application of clinical criteria, immunohistochemistry and microsatellite analysis in the diagnosis of hereditary nonpolyposis colorectal cancer. Int J Cancer 2006; 118: 115-22.
    • (2006) Int J Cancer , vol.118 , pp. 115-122
    • Engel, C.1    Forberg, J.2    Holinski-Feder, E.3
  • 13
    • 76349100948 scopus 로고    scopus 로고
    • Performance of clinical guidelines compared with molecular tumour screening methods in identifying possible Lynch syndrome among colorectal cancer patients: A Norwegian population-based study
    • Tranø G, Sjursen W, Wasmuth HH, et al. Performance of clinical guidelines compared with molecular tumour screening methods in identifying possible Lynch syndrome among colorectal cancer patients: a Norwegian population-based study. Br J Cancer 2010; 102: 482-8.
    • (2010) Br J Cancer , vol.102 , pp. 482-488
    • Tranø, G.1    Sjursen, W.2    Wasmuth, H.H.3
  • 14
    • 84860555035 scopus 로고    scopus 로고
    • Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer
    • Perez-Carbonell L, Ruiz-Ponte C, Guarinos C, et al. Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer. Gut 2012; 61: 865-72.
    • (2012) Gut , vol.61 , pp. 865-872
    • Perez-Carbonell, L.1    Ruiz-Ponte, C.2    Guarinos, C.3
  • 15
    • 73349114941 scopus 로고    scopus 로고
    • KRAS and BRAF mutations in advanced colorectal cancer are associated with poor prognosis but do not preclude benefit from oxaliplatin or irinotecan: Results from the MRC FOCUS trial
    • Richman SD, Seymour MT, Chambers P, et al. KRAS and BRAF mutations in advanced colorectal cancer are associated with poor prognosis but do not preclude benefit from oxaliplatin or irinotecan: results from the MRC FOCUS trial. J Clin Oncol 2009; 27: 5931-7.
    • (2009) J Clin Oncol , vol.27 , pp. 5931-5937
    • Richman, S.D.1    Seymour, M.T.2    Chambers, P.3
  • 16
    • 67649652208 scopus 로고    scopus 로고
    • BRAF mutation in metastatic colorectal cancer
    • Tol J, Nagtegaal ID, Punt CJ,. BRAF mutation in metastatic colorectal cancer. N Engl J Med 2009; 361: 98-9.
    • (2009) N Engl J Med , vol.361 , pp. 98-99
    • Tol, J.1    Nagtegaal, I.D.2    Punt, C.J.3
  • 17
    • 84860314426 scopus 로고    scopus 로고
    • Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: A literature review assessing utility of tumour features for MMR variant classification
    • Parsons MT, Buchanan DD, Thompson B, et al. Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification. J Med Genet 2012; 49: 151-7.
    • (2012) J Med Genet , vol.49 , pp. 151-157
    • Parsons, M.T.1    Buchanan, D.D.2    Thompson, B.3
  • 18
    • 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: 301-10.
    • (2007) Fam Cancer , vol.6 , pp. 301-310
    • Loughrey, M.B.1    Waring, P.M.2    Tan, A.3
  • 19
    • 84870067191 scopus 로고    scopus 로고
    • Application of a BRAF V600E mutation-specific antibody for the diagnosis of hairy cell leukemia
    • Andrulis M, Penzel R, Weichert W, et al. Application of a BRAF V600E mutation-specific antibody for the diagnosis of hairy cell leukemia. Am J Surg Pathol 2012; 36: 1796-800.
    • (2012) Am J Surg Pathol , vol.36 , pp. 1796-1800
    • Andrulis, M.1    Penzel, R.2    Weichert, W.3
  • 20
    • 84866624067 scopus 로고    scopus 로고
    • BRAF V600E mutant protein is expressed in cells of variable maturation in Langerhans cell histiocytosis
    • Sahm F, Capper D, Preusser M, et al. BRAF V600E mutant protein is expressed in cells of variable maturation in Langerhans cell histiocytosis. Blood 2012; 120: e28-e34.
    • (2012) Blood , vol.120
    • Sahm, F.1    Capper, D.2    Preusser, M.3
  • 21
    • 84862109270 scopus 로고    scopus 로고
    • Immunohistochemical detection of the BRAF V600E-mutated protein in papillary thyroid carcinoma
    • Koperek O, Kornauth C, Capper D, et al. Immunohistochemical detection of the BRAF V600E-mutated protein in papillary thyroid carcinoma. Am J Surg Pathol 2012; 36: 844-50.
    • (2012) Am J Surg Pathol , vol.36 , pp. 844-850
    • Koperek, O.1    Kornauth, C.2    Capper, D.3
  • 22
    • 84857030136 scopus 로고    scopus 로고
    • Immunohistochemical testing of BRAF V600E status in 1,120 tumor tissue samples of patients with brain metastases
    • Capper D, Berghoff AS, Magerle M, et al. Immunohistochemical testing of BRAF V600E status in 1,120 tumor tissue samples of patients with brain metastases. Acta Neuropathol 2012; 123: 223-33.
    • (2012) Acta Neuropathol , vol.123 , pp. 223-233
    • Capper, D.1    Berghoff, A.S.2    Magerle, M.3
  • 23
    • 22944433733 scopus 로고    scopus 로고
    • Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer
    • Mangold E, Pagenstecher C, Friedl W, et al. Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. Int J Cancer 2005; 116: 692-702.
    • (2005) Int J Cancer , vol.116 , pp. 692-702
    • Mangold, E.1    Pagenstecher, C.2    Friedl, W.3
  • 24
    • 79951997249 scopus 로고    scopus 로고
    • Analysis of EPCAM protein expression in diagnostics of Lynch syndrome
    • Kloor M, Voigt AY, Schackert HK, et al. Analysis of EPCAM protein expression in diagnostics of Lynch syndrome. J Clin Oncol 2011; 29: 223-7.
    • (2011) J Clin Oncol , vol.29 , pp. 223-227
    • Kloor, M.1    Voigt, A.Y.2    Schackert, H.K.3
  • 25
    • 5044252157 scopus 로고    scopus 로고
    • A large MSH2 Alu insertion mutation causes HNPCC in a German kindred
    • Kloor M, Sutter C, Wentzensen N, et al. A large MSH2 Alu insertion mutation causes HNPCC in a German kindred. Hum Genet 2004; 115: 432-8.
    • (2004) Hum Genet , vol.115 , pp. 432-438
    • Kloor, M.1    Sutter, C.2    Wentzensen, N.3
  • 26
    • 24944490356 scopus 로고    scopus 로고
    • T25 repeat in the 3′ untranslated region of the CASP2 gene: A sensitive and specific marker for microsatellite instability in colorectal cancer
    • Findeisen P, Kloor M, Merx S, et al. T25 repeat in the 3′ untranslated region of the CASP2 gene: a sensitive and specific marker for microsatellite instability in colorectal cancer. Cancer Res 2005; 65: 8072-8.
    • (2005) Cancer Res , vol.65 , pp. 8072-8078
    • Findeisen, P.1    Kloor, M.2    Merx, S.3
  • 27
    • 84055212063 scopus 로고    scopus 로고
    • Overexpression of ZEB2 at the invasion front of colorectal cancer is an independent prognostic marker and regulates tumor invasion in vitro
    • Kahlert C, Lahes S, Radhakrishnan P, et al. Overexpression of ZEB2 at the invasion front of colorectal cancer is an independent prognostic marker and regulates tumor invasion in vitro. Clin Cancer Res 2011; 17: 7654-63.
    • (2011) Clin Cancer Res , vol.17 , pp. 7654-7663
    • Kahlert, C.1    Lahes, S.2    Radhakrishnan, P.3
  • 28
    • 34548757329 scopus 로고    scopus 로고
    • Application of a BRAF pyrosequencing assay for mutation detection and copy number analysis in malignant melanoma
    • Spittle C, Ward MR, Nathanson KL, et al. Application of a BRAF pyrosequencing assay for mutation detection and copy number analysis in malignant melanoma. J Mol Diagn 2007; 9: 464-71.
    • (2007) J Mol Diagn , vol.9 , pp. 464-471
    • Spittle, C.1    Ward, M.R.2    Nathanson, K.L.3
  • 29
    • 79959580390 scopus 로고    scopus 로고
    • Assessment of BRAF V600E mutation status by immunohistochemistry with a mutation-specific monoclonal antibody
    • Capper D, Preusser M, Habel A, et al. Assessment of BRAF V600E mutation status by immunohistochemistry with a mutation-specific monoclonal antibody. Acta Neuropathol 2011; 122: 11-19.
    • (2011) Acta Neuropathol , vol.122 , pp. 11-19
    • Capper, D.1    Preusser, M.2    Habel, A.3
  • 30
    • 33745541234 scopus 로고    scopus 로고
    • CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer
    • Weisenberger DJ, Siegmund KD, Campan M, et al. CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer. Nat Genet 2006; 38: 787-93.
    • (2006) Nat Genet , vol.38 , pp. 787-793
    • Weisenberger, D.J.1    Siegmund, K.D.2    Campan, M.3
  • 31
    • 84869220840 scopus 로고    scopus 로고
    • Utilization of a MAB for BRAF(V600E) detection in papillary thyroid carcinoma
    • Bullock M, O'Neill C, Chou A, et al. Utilization of a MAB for BRAF(V600E) detection in papillary thyroid carcinoma. Endocr Relat Cancer 2012; 19: 779-84.
    • (2012) Endocr Relat Cancer , vol.19 , pp. 779-784
    • Bullock, M.1    O'Neill, C.2    Chou, A.3
  • 32
    • 84875410796 scopus 로고    scopus 로고
    • Detection of BRAF p.V600E mutations in melanomas: Comparison of four methods argues for sequential use of immunohistochemistry and pyrosequencing
    • Colomba E, Hélias-Rodzewicz Z, Von Deimling A, et al. Detection of BRAF p.V600E mutations in melanomas: comparison of four methods argues for sequential use of immunohistochemistry and pyrosequencing. J Mol Diagn 2012; 15: 94-100.
    • (2012) J Mol Diagn , vol.15 , pp. 94-100
    • Colomba, E.1    Hélias-Rodzewicz, Z.2    Von Deimling, A.3
  • 33
    • 0038002279 scopus 로고    scopus 로고
    • Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer
    • Ribic CM, Sargent DJ, Moore MJ, et al. Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med 2003; 349: 247-57.
    • (2003) N Engl J Med , vol.349 , pp. 247-257
    • Ribic, C.M.1    Sargent, D.J.2    Moore, M.J.3
  • 34
    • 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: 609-18.
    • (2005) J Clin Oncol , vol.23 , pp. 609-618
    • Popat, S.1    Hubner, R.2    Houlston, R.S.3
  • 35
    • 77957197346 scopus 로고    scopus 로고
    • Microsatellite instability as a marker of prognosis and response to therapy: A meta-analysis of colorectal cancer survival data
    • Guastadisegni C, Colafranceschi M, Ottini L, et al. Microsatellite instability as a marker of prognosis and response to therapy: a meta-analysis of colorectal cancer survival data. Eur J Cancer 2010; 46: 2788-98.
    • (2010) Eur J Cancer , vol.46 , pp. 2788-2798
    • Guastadisegni, C.1    Colafranceschi, M.2    Ottini, L.3
  • 36
    • 79958828886 scopus 로고    scopus 로고
    • DNA mismatch repair status and colon cancer recurrence and survival in clinical trials of 5-fluorouracil-based adjuvant therapy
    • Sinicrope FA, Foster NR, Thibodeau SN, et al. DNA mismatch repair status and colon cancer recurrence and survival in clinical trials of 5-fluorouracil-based adjuvant therapy. J Natl Cancer Inst 2011; 103: 863-75.
    • (2011) J Natl Cancer Inst , vol.103 , pp. 863-875
    • Sinicrope, F.A.1    Foster, N.R.2    Thibodeau, S.N.3
  • 37
    • 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, et al. 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 1997; 57: 808-11.
    • (1997) Cancer Res , vol.57 , pp. 808-811
    • Kane, M.F.1    Loda, M.2    Gaida, G.M.3
  • 38
    • 0035213535 scopus 로고    scopus 로고
    • Extensive methylation of hMLH1 promoter region predominates in proximal colon cancer with microsatellite instability
    • Miyakura Y, Sugano K, Konishi F, et al. Extensive methylation of hMLH1 promoter region predominates in proximal colon cancer with microsatellite instability. Gastroenterology 2001; 121: 1300-9.
    • (2001) Gastroenterology , vol.121 , pp. 1300-1309
    • Miyakura, Y.1    Sugano, K.2    Konishi, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.