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Volumn 135, Issue 5, 2014, Pages 1085-1091

Population-based screening for Lynch syndrome in Western Australia

(19)  Schofield, Lyn a,b   Grieu, Fabienne c   Amanuel, Benhur a,c   Carrello, Amerigo c   Spagnolo, Dominic a,c   Kiraly, Cathy b   Pachter, Nicholas a,b   Goldblatt, Jack a,b   Platell, Cameron a,d   Levitt, Michael d   Stewart, Colin b   Salama, Paul a,e   Ee, Hooi c   Raftopoulous, Spiro c   Katris, Paul f   Threlfall, Tim g   Edkins, Edward h   Wallace, Marina a   Iacopetta, Barry a  


Author keywords

colorectal cancer; Lynch syndrome; microsatellite instability; screening

Indexed keywords

ADULT; ARTICLE; AUSTRALIA; BRAF GENE; CANCER SCREENING; COHORT ANALYSIS; GENETIC SCREENING; GERMLINE MUTATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MLH1 GENE; MUTATIONAL ANALYSIS; ONCOGENE; PRIORITY JOURNAL; PROTEIN EXPRESSION; QUALITY CONTROL;

EID: 84902532682     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.28744     Document Type: Article
Times cited : (22)

References (31)
  • 2
    • 17944362664 scopus 로고    scopus 로고
    • Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)
    • Hampel H, Frankel WL, Martin E, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005; 352: 1851-60.
    • (2005) N Engl J Med , vol.352 , pp. 1851-1860
    • Hampel, H.1    Frankel, W.L.2    Martin, E.3
  • 3
    • 4444311092 scopus 로고    scopus 로고
    • BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing
    • Domingo E, Laiho P, Ollikainen M, et al. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet 2004; 41: 664-8.
    • (2004) J Med Genet , vol.41 , pp. 664-668
    • Domingo, E.1    Laiho, P.2    Ollikainen, M.3
  • 4
    • 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
  • 5
    • 57449097359 scopus 로고    scopus 로고
    • Feasibility of screening for Lynch syndrome among patients with colorectal cancer
    • Hampel H, Frankel WL, Martin E, et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 2008; 26: 5783-88.
    • (2008) J Clin Oncol , vol.26 , pp. 5783-5788
    • Hampel, H.1    Frankel, W.L.2    Martin, E.3
  • 6
    • 84867499525 scopus 로고    scopus 로고
    • Identification of Lynch syndrome among patients with colorectal cancer
    • Moreira L, Balaguer F, Lindor N, et al. Identification of Lynch syndrome among patients with colorectal cancer. JAMA 2012; 308: 1555-65.
    • (2012) JAMA , vol.308 , pp. 1555-1565
    • Moreira, L.1    Balaguer, F.2    Lindor, N.3
  • 7
    • 0034799747 scopus 로고    scopus 로고
    • The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer
    • Samowitz WS, Curtin K, Lin HH, et al. The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer. Gastroenterology 2001; 121: 830-8.
    • (2001) Gastroenterology , vol.121 , pp. 830-838
    • Samowitz, W.S.1    Curtin, K.2    Lin, H.H.3
  • 8
    • 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, et al. 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
  • 9
    • 58749101712 scopus 로고    scopus 로고
    • Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test
    • Schofield L, Watson N, Grieu F, et al. Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test. Int J Cancer 2009; 124: 1097-1102.
    • (2009) Int J Cancer , vol.124 , pp. 1097-1102
    • Schofield, L.1    Watson, N.2    Grieu, F.3
  • 10
    • 84883873822 scopus 로고    scopus 로고
    • Population-based molecular screening for Lynch syndrome: Implications for personalized medicine
    • Ward RL, Hicks S, Hawkins NJ,. Population-based molecular screening for Lynch syndrome: Implications for personalized medicine. J Clin Oncol 2013; 31: 2554-62.
    • (2013) J Clin Oncol , vol.31 , pp. 2554-2562
    • Ward, R.L.1    Hicks, S.2    Hawkins, N.J.3
  • 11
    • 78049472769 scopus 로고    scopus 로고
    • Genetic testing for hereditary colorectal cancer: Challenges in identifying, counselling, and managing high-risk patients
    • Stoffel EM, Chittenden A,. Genetic testing for hereditary colorectal cancer: Challenges in identifying, counselling, and managing high-risk patients. Gastroenterology 2010; 139: 1436-41.
    • (2010) Gastroenterology , vol.139 , pp. 1436-1441
    • Stoffel, E.M.1    Chittenden, A.2
  • 12
    • 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, et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 1999; 116: 1453-56.
    • (1999) Gastroenterology , vol.116 , pp. 1453-1456
    • Vasen, H.F.1    Watson, P.2    Mecklin, J.P.3
  • 13
    • 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
  • 14
    • 33847110186 scopus 로고    scopus 로고
    • Hereditary Tumor Study Group of the Comprehensive Cancer Centre West. Family history is neglected in the work-up of patients with colorectal cancer: A quality assessment using cancer registry data
    • van Dijk DA, Oostindiër MJ, Kloosterman-Boele WM, et al. Hereditary Tumor Study Group of the Comprehensive Cancer Centre West. Family history is neglected in the work-up of patients with colorectal cancer: A quality assessment using cancer registry data. Fam Cancer 2007; 6: 131-34.
    • (2007) Fam Cancer , vol.6 , pp. 131-134
    • Van Dijk, D.A.1    Oostindiër, M.J.2    Kloosterman-Boele, W.M.3
  • 15
    • 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, et al. 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
  • 16
    • 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
  • 17
    • 56349109854 scopus 로고    scopus 로고
    • Identifying Lynch syndrome: We are all responsible
    • Sanchez JA, Vogel JD, Kalady MF, et al. Identifying Lynch syndrome: We are all responsible. Dis Colon Rectum 2008; 51: 1750-6.
    • (2008) Dis Colon Rectum , vol.51 , pp. 1750-1756
    • Sanchez, J.A.1    Vogel, J.D.2    Kalady, M.F.3
  • 18
    • 59849108362 scopus 로고    scopus 로고
    • Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group: Recommendations from the EGAPP Working Group: Genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives
    • Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group: Recommendations from the EGAPP Working Group: Genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med 2009; 11: 35-41.
    • (2009) Genet Med , vol.11 , pp. 35-41
  • 19
    • 78650844345 scopus 로고    scopus 로고
    • The search for unaffected individuals with Lynch syndrome: Do the ends justify the means?
    • Hampel H, de la Chapelle A,. The search for unaffected individuals with Lynch syndrome: Do the ends justify the means? Cancer Prev Res (Phila) 2011; 4: 1-5.
    • (2011) Cancer Prev Res (Phila) , vol.4 , pp. 1-5
    • Hampel, H.1    De La Chapelle, A.2
  • 20
    • 84863903548 scopus 로고    scopus 로고
    • Screening patients with colorectal cancer for Lynch syndrome: What are we waiting for?
    • Kastrinos F, Syngal S,. Screening patients with colorectal cancer for Lynch syndrome: What are we waiting for? J Clin Oncol 2012: 30: 1024-7.
    • (2012) J Clin Oncol , vol.30 , pp. 1024-1027
    • Kastrinos, F.1    Syngal, S.2
  • 21
    • 84869662299 scopus 로고    scopus 로고
    • Accessed on June 2013
    • Western Australian Cancer Registry. http://www.health.wa.gov.au/wacr/ statistics/. Accessed on June 2013.
    • Western Australian Cancer Registry
  • 22
    • 84858297003 scopus 로고    scopus 로고
    • Routine screening for Lynch syndrome in the Western Australian population using initial tumour MSI testing
    • Schofield L, Grieu F, Carrello A, et al. Routine screening for Lynch syndrome in the Western Australian population using initial tumour MSI testing. Fam Cancer 2012; 11: 1-6.
    • (2012) Fam Cancer , vol.11 , pp. 1-6
    • Schofield, L.1    Grieu, F.2    Carrello, A.3
  • 23
    • 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, et al. 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
  • 24
    • 9144226978 scopus 로고    scopus 로고
    • Screening for defective DNA mismatch repair in stage II and III colorectal cancer patients
    • Chai SM, Zeps N, Shearwood AM, et al. Screening for defective DNA mismatch repair in stage II and III colorectal cancer patients. Clin Gastroenterol Hepatol 2004; 2: 1017-25.
    • (2004) Clin Gastroenterol Hepatol , vol.2 , pp. 1017-1025
    • Chai, S.M.1    Zeps, N.2    Shearwood, A.M.3
  • 25
    • 80051578149 scopus 로고    scopus 로고
    • Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5UTR
    • Hitchins MP, Rapkins RW, Kwok CT, et al. Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5UTR. Cancer Cell 2011; 20: 200-13.
    • (2011) Cancer Cell , vol.20 , pp. 200-213
    • Hitchins, M.P.1    Rapkins, R.W.2    Kwok, C.T.3
  • 26
    • 84880921949 scopus 로고    scopus 로고
    • The InSiGHT database: Utilizing 100 years of insights into Lynch Syndrome
    • Plazzer JP, Sijmons RH, Woods MO, et al. The InSiGHT database: Utilizing 100 years of insights into Lynch Syndrome. Fam Cancer 2013; 12: 175-80.
    • (2013) Fam Cancer , vol.12 , pp. 175-180
    • Plazzer, J.P.1    Sijmons, R.H.2    Woods, M.O.3
  • 27
    • 84876079162 scopus 로고    scopus 로고
    • Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing lynch syndrome in a large academic medical center
    • Heald B, Plesec T, Liu X, 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.
    • (2013) J Clin Oncol , vol.31 , pp. 1336-1340
    • Heald, B.1    Plesec, T.2    Liu, X.3
  • 28
    • 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, et al. 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
  • 29
    • 84880725363 scopus 로고    scopus 로고
    • Immunohistochemistry using the BRAF V600E mutation-specific monoclonal antibody VE1 is not a useful surrogate for genotyping in colorectal adenocarcinoma
    • Adackapara CA, Sholl LM, Barletta JA, et al. Immunohistochemistry using the BRAF V600E mutation-specific monoclonal antibody VE1 is not a useful surrogate for genotyping in colorectal adenocarcinoma. Histopathology 2013; 63: 187-93.
    • (2013) Histopathology , vol.63 , pp. 187-193
    • Adackapara, C.A.1    Sholl, L.M.2    Barletta, J.A.3
  • 30
    • 79960604164 scopus 로고    scopus 로고
    • Strategies to identify the Lynch syndrome among patients with colorectal cancer: A cost-effectiveness analysis
    • Ladabaum U, Wang G, Terdiman J, et al. Strategies to identify the Lynch syndrome among patients with colorectal cancer: A cost-effectiveness analysis. Ann Intern Med 2011; 155: 69-79.
    • (2011) Ann Intern Med , vol.155 , pp. 69-79
    • Ladabaum, U.1    Wang, G.2    Terdiman, J.3
  • 31
    • 77149122082 scopus 로고    scopus 로고
    • The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer
    • Mvundura M, Grosse SD, Hampel H, et al. The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Genet Med 2010; 12: 93-104.
    • (2010) Genet Med , vol.12 , pp. 93-104
    • Mvundura, M.1    Grosse, S.D.2    Hampel, H.3


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