Mutation prediction models in Lynch syndrome: Evaluation in a clinical genetic setting

Journal of Medical Genetics

Volumn 46, Issue 11, 2009, Pages 745-751

  Ramsoekh, D ^a   Van Leerdam, M E ^a   Wagner, A ^a   Kuipers, J ^a   Steyerberg, E W ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

ADULT; ARTICLE; COLORECTAL CANCER; COST EFFECTIVENESS ANALYSIS; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC MODEL; GENETIC RISK; GERM LINE; HEALTH CARE COST; HIGH RISK PATIENT; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RISK ASSESSMENT;

ADULT; AGED; AREA UNDER CURVE; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; DNA MUTATIONAL ANALYSIS; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; MODELS, GENETIC; MUTATION; PREDICTIVE VALUE OF TESTS; REPRODUCIBILITY OF RESULTS; ROC CURVE; SENSITIVITY AND SPECIFICITY;

EID: 72449136819     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.066589     Document Type: Article

References (30)

1. Watson P, Lynch HT. The tumor spectrum in HNPCC. Anticancer Res 1994;14:1635-1639
2. Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A, Peltomaki P, Mecklin JP, Jarvinen HJ. Cancer risk in mutation carriers of DNA-mismatch- repair genes. Int J Cancer 1999;81:214-218 (Pubitemid 29144749)
3. 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;116:1453-1456 (Pubitemid 29258894)
4. Umar A, Boland CR, Terdiman JP, Syngal S, de la CA, Ruschoff J, Fishel R, Lindor NM, Burgart LJ, Hamelin R, Hamilton SR, Hiatt RA, Jass J, Lindblom A, Lynch HT, Peltomaki P, Ramsey SD, Rodriguez-Bigas MA, Vasen HF, Hawk ET, Barrett JC, Freedman AN, Srivastava S. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004;96:261-268 (Pubitemid 38256271)
5. Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomaki P, Chadwick RB, Kaariainen H, Eskelinen M, Jarvinen H, Mecklin JP, de la Chapelle A. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 1998;338:1481-1487 (Pubitemid 28226275)
6. Debniak T, Kurzawski G, Gorski B, Kladny J, Domagala W, Lubinski J. Value of pedigree/clinical data, immunohistochemistry and microsatellite instability analyses in reducing the cost of determining hMLH1 and hMSH2 gene mutations in patients with colorectal cancer. Eur J Cancer 2000;36:49-54. (Pubitemid 30035343)
7. Salovaara R, Loukola A, Kristo P, Kaariainen H, Ahtola H, Eskelinen M, Harkonen N, Julkunen R, Kangas E, Ojala S, Tulikoura J, Valkamo E, Jarvinen H, Mecklin JP, Aaltonen LA, de la CA. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol 2000;18:2193-2200 (Pubitemid 30350210)
8. Cunningham JM, Kim CY, Christensen ER, Tester DJ, Parc Y, Burgart LJ, Halling KC, McDonnell SK, Schaid DJ, Walsh VC, Kubly V, Nelson H, Michels VV, Thibodeau SN. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet 2001;69:780-790 (Pubitemid 32868523)
9. Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, Nakagawa H, Sotamaa K, Prior TW, Westman J, Panescu J, Fix D, Lockman J, Comeras I, de la CA. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005;352:1851-1860.
10. Pinol V, Castells A, Andreu M, Castellvi-Bel S, Alenda C, Llor X, Xicola RM, Rodriguez-Moranta F, Paya A, Jover R, Bessa X. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 2005;293:1986-1994 (Pubitemid 40570892)
11. Wijnen JT, Vasen HF, Khan PM, Zwinderman AH, van der KH, Mulder A, Tops C, Moller P, Fodde R. Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med 1998;339:511-518 (Pubitemid 28384884)
12. Aaltonen LA, Peltomaki P, Mecklin JP, Jarvinen H, Jass JR, Green JS, Lynch HT, Watson P, Tallqvist G, Juhola M. Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res 1994;54:1645-1648 (Pubitemid 24116162)
13. Ionov Y, Peinado MA, Malkhosyan S, Shibata D, Perucho M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 1993;363:558-561 (Pubitemid 23186645)
14. Muller W, Burgart LJ, Krause-Paulus R, Thibodeau SN, Almeida M, Edmonston TB, Boland CR, Sutter C, Jass JR, Lindblom A, Lubinski J, MacDermot K, Sanders DS, Morreau H, Muller A, Oliani C, Orntoft T, Ponz De LM, Rosty C, Rodriguez-Bigas M, Ruschoff J, Ruszkiewicz A, Sabourin J, Salovaara R, Moslein G. The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) - results of an international collaborative study. Fam Cancer 2001;1:87-92. (Pubitemid 35221521)
15. de Bruin JH, Kievit W, Ligtenberg MJ, Nagengast FM, Adang EM, Ruers TJ, Kleibeuker JH, Sijmons RH, van Krieken JH, Hoogerbrugge N. [More hereditary intestinal cancer can be detected if patients with colorectal carcinoma that are selected by the pathologist are examined for microsatellite instability]. Ned Tijdschr Geneeskd 2005;149:1792-1798
16. Kievit W, de Bruin JH, Adang EM, Severens JL, Kleibeuker JH, Sijmons RH, Ruers TJ, Nagengast FM, Vasen HF, van Krieken JH, Ligtenberg MJ, Hoogerbrugge N. Cost effectiveness of a new strategy to identify HNPCC patients. Gut 2005;54:97-102. (Pubitemid 40007226)
17. Lipton LR, Johnson V, Cummings C, Fisher S, Risby P, Eftekhar Sadat AT, Cranston T, Izatt L, Sasieni P, Hodgson SV, Thomas HJ, Tomlinson IP. Refining the Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic. J Clin Oncol 2004;22:4934-4943 (Pubitemid 46638618)
18. Barnetson RA, Tenesa A, Farrington SM, Nicholl ID, Cetnarskyj R, Porteous ME, Campbell H, Dunlop MG. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med 2006;354:2751-2763 (Pubitemid 43974193)
19. Balmana J, Stockwell DH, Steyerberg EW, Stoffel EM, Deffenbaugh AM, Reid JE, Ward B, Scholl T, Hendrickson B, Tazelaar J, Burbidge LA, Syngal S. Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA 2006;296:1469-1478 (Pubitemid 44465511)
20. Chen S, Wang W, Lee S, Nafa K, Lee J, Romans K, Watson P, Gruber SB, Euhus D, Kinzler KW, Jass J, Gallinger S, Lindor NM, Casey G, Ellis N, Giardiello FM, Offit K, Parmigiani G. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA 2006;296:1479-1487 (Pubitemid 44465512)
21. Poley JW, Wagner A, Hoogmans MM, Menko FH, Tops C, Kros JM, Reddingius RE, Meijers-Heijboer H, Kuipers EJ, Dinjens WN. Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. Cancer 2007;109:2349-2356 (Pubitemid 46801567)
22. Vasen HF, Hendriks Y, de Jong AE, Van PM, Tops C, Brocker-Vriends AH, Wijnen JT, Morreau H. Identification of HNPCC by molecular analysis of colorectal and endometrial tumors. Dis Markers 2004;20:207-213 (Pubitemid 40164093)
23. Hosmer DW, Lemeshow S. Applied logistic regression, 2nd ed. New York: Wiley and Sons, 2000.
24. Balaguer F, Balmana J, Castellvi-Bel S, Steyerberg EW, Andreu M, Llor X, Jover R, Syngal S, Castells A. Validation and extension of the PREMM1,2 model in a population-based cohort of colorectal cancer patients. Gastroenterology 2008;134:39-46.
25. Jarvinen HJ, Aarnio M, Mustonen H, Aktan-Collan K, Aaltonen LA, Peltomaki P, de la CA, Mecklin JP. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 2000;118:829-834 (Pubitemid 30243745)
26. Syngal S, Weeks JC, Schrag D, Garber JE, Kuntz KM. Benefits of colonoscopic surveillance and prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer mutations. Ann Intern Med 1998;129:787-796 (Pubitemid 28522813)
27. Wagner A, van KI, Kriege MG, Tops CM, Wijnen JT, Vasen HF, van der Meer CA, van O, II, Meijers-Heijboer H. Long term follow-up of HNPCC gene mutation carriers: compliance with screening and satisfaction with counseling and screening procedures. Fam Cancer 2005;4:295-300. (Pubitemid 41795804)
28. Engel C, Forberg J, Holinski-Feder E, Pagenstecher C, Plaschke J, Kloor M, Poremba C, Pox CP, Ruschoff J, Keller G, Dietmaier W, Rummele P, Friedrichs N, Mangold E, Buettner R, Schackert HK, Kienle P, Stemmler S, Moeslein G, Loeffler M. 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;118:115-122 (Pubitemid 41681587)
29. Southey MC, Jenkins MA, Mead L, Whitty J, Trivett M, Tesoriero AA, Smith LD, Jennings K, Grubb G, Royce SG, Walsh MD, Barker MA, Young JP, Jass JR, St John DJ, Macrae FA, Giles GG, Hopper JL. Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. J Clin Oncol 2005;23:6524-6532 (Pubitemid 46190244)
30. Niessen RC, Berends MJ, Wu Y, Sijmons RH, Hollema H, Ligtenberg MJ, de Walle HE, de Vries EG, Karrenbeld A, Buys CH, van der Zee AG, Hofstra RM, Kleibeuker JH. Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary nonpolyposis colorectal cancer. Gut 2006;55:1781-1788 (Pubitemid 44893579)