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Volumn 110, Issue 7, 2015, Pages 948-955

Population-based lynch syndrome screening by microsatellite instability in patients ≤50: Prevalence, testing determinants, and result availability prior to colon surgery

Author keywords

[No Author keywords available]

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

EID: 84936846687     PISSN: 00029270     EISSN: 15720241     Source Type: Journal    
DOI: 10.1038/ajg.2014.417     Document Type: Article
Times cited : (42)

References (28)
  • 1
    • 67651085573 scopus 로고    scopus 로고
    • Underutilization of microsatellite instability analysis in colorectal cancer patients at high risk for Lynch Syndrome
    • Van Lier MG, De Wilt JH, Wagemakers JJ, et al. Underutilization of microsatellite instability analysis in colorectal cancer patients at high risk for Lynch Syndrome. Scand J Gastroenterol 2009; 44: 600-4.
    • (2009) Scand J Gastroenterol , vol.44 , pp. 600-604
    • Van Lier, M.G.1    De Wilt, J.H.2    Wagemakers, J.J.3
  • 3
    • 26644441586 scopus 로고    scopus 로고
    • Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer
    • Southey MC, Jenkins MA, Mead L, et al. Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. J Clin Oncol 2005; 23: 6524-32.
    • (2005) J Clin Oncol , vol.23 , pp. 6524-6532
    • Southey, M.C.1    Jenkins, M.A.2    Mead, L.3
  • 4
    • 84866658167 scopus 로고    scopus 로고
    • Risks of primary extracolonic cancers following colorectal cancer in Lynch syndrome
    • Win AK, Lindor NM, Young JP, et al. Risks of primary extracolonic cancers following colorectal cancer in Lynch syndrome. J Natl Cancer Inst 2012; 104: 1363-72.
    • (2012) J Natl Cancer Inst , vol.104 , pp. 1363-1372
    • Win, A.K.1    Lindor, N.M.2    Young, J.P.3
  • 5
    • 84871927868 scopus 로고    scopus 로고
    • Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer
    • Skeldon SC, Semotiuk K, Aronson M, et al. Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer. Eur Urol 2012; 63: 379-85.
    • (2012) Eur Urol , vol.63 , pp. 379-385
    • Skeldon, S.C.1    Semotiuk, K.2    Aronson, M.3
  • 6
    • 0034011564 scopus 로고    scopus 로고
    • Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer
    • Jarvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 2000; 118: 829-34.
    • (2000) Gastroenterology , vol.118 , pp. 829-834
    • Jarvinen, H.J.1    Aarnio, M.2    Mustonen, H.3
  • 7
    • 79958200852 scopus 로고    scopus 로고
    • Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: The advantage of more extensive colon surgery
    • Parry S, Win AK, Parry B, et al. Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery. Gut 2011; 60: 950-7.
    • (2011) Gut , vol.60 , pp. 950-957
    • Parry, S.1    Win, A.K.2    Parry, B.3
  • 8
    • 84878234117 scopus 로고    scopus 로고
    • Risk of metachronous colon cancer following surgery for rectal cancer in mismatch repair gene mutation carriers
    • Win AK, Parry S, Parry B, et al. Risk of metachronous colon cancer following surgery for rectal cancer in mismatch repair gene mutation carriers. Ann Surg Oncol 2013; 20: 1829-36.
    • (2013) Ann Surg Oncol , vol.20 , pp. 1829-1836
    • Win, A.K.1    Parry, S.2    Parry, B.3
  • 9
    • 10744233669 scopus 로고    scopus 로고
    • Decision analysis in the surgical treatment of colorectal cancer due to a mismatch repair gene defect
    • De Vos tot Nederveen Cappel WH, Buskens E, van Duijvendijk P, et al. Decision Analysis in the Surgical Treatment of Colorectal Cancer Due to a Mismatch Repair Gene Defect. Gut 2003; 52: 1752-5.
    • (2003) Gut , vol.52 , pp. 1752-1755
    • De Vostot Nederveen Cappel, W.H.1    Buskens, E.2    Van Duijvendijk, P.3
  • 10
    • 84905595139 scopus 로고    scopus 로고
    • Guidelines on genetic evaluation and management of Lynch syndrome: A consensus statement by the US Multi-society task force of colorectal cancer
    • Giardello FM, Allen JI, Axilbund JE, et al. Guidelines on genetic evaluation and management of Lynch syndrome: A consensus statement by the US Multi-society task force of colorectal cancer. Am J Gastroenterol 2014; 109: 1159-79.
    • (2014) Am J Gastroenterol , vol.109 , pp. 1159-1179
    • Giardello, F.M.1    Allen, J.I.2    Axilbund, J.E.3
  • 11
    • 10744233937 scopus 로고    scopus 로고
    • Revised bethesda guidelines for hereditary nonpolyposis colorectal cancer (lynch syndrome) and microsatellite instability
    • Unar 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
    • Unar, A.1    Boland, C.R.2    Terdiman, J.P.3
  • 12
    • 57149137640 scopus 로고    scopus 로고
    • National Comprehensive Cancer Network. Accessed on 22 April 2014
    • National Comprehensive Cancer Network. Colorectal Cancer Screening (Version 1.2014) http://www.nccn.org/professionals/physician-gls/pdf/ colorectal-screening.pdf; Accessed on 22 April 2014
    • Colorectal Cancer Screening (Version 1.2014)
  • 13
    • 59849129653 scopus 로고    scopus 로고
    • EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome
    • Palomaki GE, McClain MR, Melillo S, et al. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med 2009; 11: 169-174.
    • (2009) Genet Med , vol.11 , pp. 169-174
    • Palomaki, G.E.1    McClain, M.R.2    Melillo, S.3
  • 14
    • 84880917823 scopus 로고    scopus 로고
    • EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients
    • Ligtenberg MJ, Kuiper RP, Geurts van Kessel A, et al. EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients. Fam Cancer 2013; 12: 169-74.
    • (2013) Fam Cancer , vol.12 , pp. 169-174
    • Ligtenberg, M.J.1    Kuiper, R.P.2    Geurts Van Kessel, A.3
  • 15
    • 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, Crawly S, et al. 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    Crawly, S.3
  • 16
    • 84881640407 scopus 로고    scopus 로고
    • Microsatellite instability and BRAF mutation testing in colorectal cancer prognostication
    • Lochhead P, Kuchiba A, Imamura Y, et al. Microsatellite instability and BRAF mutation testing in colorectal cancer prognostication. J Natl Cancer Inst 2013; 105: 1151-6.
    • (2013) J Natl Cancer Inst , vol.105 , pp. 1151-1156
    • Lochhead, P.1    Kuchiba, A.2    Imamura, Y.3
  • 19
    • 84862530392 scopus 로고    scopus 로고
    • Refl ex immunohistochemistry and microsatellite instability testing of colorectal tumors for lynch syndrome among US cancer programs and follow-up of abnormal results
    • Beamer L, Grant M, Espenschied C, et al. Refl ex immunohistochemistry and microsatellite instability testing of colorectal tumors for lynch syndrome among US cancer programs and follow-up of abnormal results. J Clin Oncol 2012; 30: 1058-63.
    • (2012) J Clin Oncol , vol.30 , pp. 1058-1063
    • Beamer, L.1    Grant, M.2    Espenschied, C.3
  • 20
    • 84890033683 scopus 로고    scopus 로고
    • Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer
    • Cross DS, Rahm AK, Kauffman TL, et al. Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer. Genet Med 2013; 15: 933-40.
    • (2013) Genet Med , vol.15 , pp. 933-940
    • Cross, D.S.1    Rahm, A.K.2    Kauffman, T.L.3
  • 21
    • 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
  • 22
    • 33845413734 scopus 로고    scopus 로고
    • Identifi cation of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumors associated with hereditary non-polyposis colorectal cancer
    • Niessen RC, Berends MJW, Wu Y, et al. Identifi cation of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumors associated with hereditary non-polyposis colorectal cancer. Gut 2006; 55: 1781-8.
    • (2006) Gut , vol.55 , pp. 1781-1788
    • Niessen, R.C.1    Berends, M.J.W.2    Wu, Y.3
  • 23
    • 84898821824 scopus 로고    scopus 로고
    • Is it time to embrace telephone genetic counseling in the oncology setting?
    • Madlensky L. Is it time to embrace telephone genetic counseling in the oncology setting?. J Clin Oncol 2014; 32: 611-2.
    • (2014) J Clin Oncol , vol.32 , pp. 611-612
    • Madlensky, L.1
  • 24
    • 57449095010 scopus 로고    scopus 로고
    • Evaluation of genetic counseling for hereditary cancer by videoconference in British Columbia
    • d'Agincourt-Canning L, McGillivray B, Panabaker K, et al. Evaluation of genetic counseling for hereditary cancer by videoconference in British Columbia. BCMJ 2008; 50: 554-9.
    • (2008) BCMJ , vol.50 , pp. 554-559
    • D'agincourt-Canning, L.1    McGillivray, B.2    Panabaker, K.3
  • 25
    • 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
  • 26
    • 84936848845 scopus 로고    scopus 로고
    • Accessed on 11 May
    • LSU Pennington Biomedical Research Center. http://www.lsusystem.edu/ index.php/institutions/lsu-pennington-biomedical-research-center/; Accessed on 11 May 2014.
    • (2014) LSU Pennington Biomedical Research Center
  • 27
    • 0032555020 scopus 로고    scopus 로고
    • Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease
    • Aaltonen LA, Salovaara R, Kristo P, et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 1998; 338: 1481-7.
    • (1998) N Engl J Med , vol.338 , pp. 1481-1487
    • Aaltonen, L.A.1    Salovaara, R.2    Kristo, P.3
  • 28
    • 79957972820 scopus 로고    scopus 로고
    • Immunohistochemistry to detect hereditary polyposis colorectal cancer in young patients: The 7-year Auckland experience
    • Wright DM, Arnold JL, Parry B, et al. Immunohistochemistry to detect hereditary polyposis colorectal cancer in young patients: the 7-year Auckland experience. Dis Colon Rectum 2011; 54: 552-8.
    • (2011) Dis Colon Rectum , vol.54 , pp. 552-558
    • Wright, D.M.1    Arnold, J.L.2    Parry, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.