-
1
-
-
0032555020
-
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease
-
Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Pel-tomaki P, Chadwick RB, Kääriäinen 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;338:1481-7.
-
(1998)
N Engl J Med
, vol.338
, pp. 1481-1487
-
-
Aaltonen, L.A.1
Salovaara, R.2
Kristo, P.3
Canzian, F.4
Hemminki, A.5
Pel-tomaki, P.6
Chadwick, R.B.7
Kääriäinen, H.8
Eskelinen, M.9
Jarvinen, H.10
Mecklin, J.P.11
de la Chapelle, A.12
-
3
-
-
0027285475
-
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
-
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
-
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
-
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
-
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
-
8
-
-
4444311092
-
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing
-
Domingo E, Laiho P, Ollikainen M, Pinto M, Wang L, French AJ, Westra J, Frebourg T, Espin E, Armengol M, Hamelin R, Yamamoto H, 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
Pinto, M.4
Wang, L.5
French, A.J.6
Westra, J.7
Frebourg, T.8
Espin, E.9
Armengol, M.10
Hamelin, R.11
Yamamoto, H.12
-
9
-
-
0034011564
-
Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer
-
Jarvinen HJ, Aarnio M, Mustonen H, Aktan-Colian K, Aaltonen LA, Peltomaki P, De La Chapelle A, Mecklin JP. 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
Aktan-Colian, K.4
Aaltonen, L.A.5
Peltomaki, P.6
De La Chapelle, A.7
Mecklin, J.P.8
-
10
-
-
0032080634
-
A cost-effectiveness analysis of colorectal screening of hereditary nonpolyposis colorectal carcinoma gene carriers
-
Vasen HF, van Ballegooijen M, Buskens E, Kleibeuker JK, Taal BG, Griffioen G, Nagengast FM, Menko FH, Meera Khan P. A cost-effectiveness analysis of colorectal screening of hereditary nonpolyposis colorectal carcinoma gene carriers. Cancer 1998;82:1632-7.
-
(1998)
Cancer
, vol.82
, pp. 1632-1637
-
-
Vasen, H.F.1
van Ballegooijen, M.2
Buskens, E.3
Kleibeuker, J.K.4
Taal, B.G.5
Griffioen, G.6
Nagengast, F.M.7
Menko, F.H.8
Meera Khan, P.9
-
11
-
-
0033063711
-
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
-
-
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
-
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
-
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
-
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
-
16
-
-
26644441586
-
Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer
-
Southey MC, Jenkins MA, Mead L, Whittv J, Trivett M, Tesoriero AA, Smith LD, Jennings K, Grubb G, Royee SO, Walsh MD, Barker MA, 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
Whittv, J.4
Trivett, M.5
Tesoriero, A.A.6
Smith, L.D.7
Jennings, K.8
Grubb, G.9
Royee, S.O.10
Walsh, M.D.11
Barker, M.A.12
-
17
-
-
4444328981
-
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
-
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
-
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
-
20
-
-
17944362664
-
Screening for the Lvnch syndrome (hereditary nonpolyposis colorectal cancer)
-
Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, Nakagawa H, Sotamaa K, Prior TW, Westman J, Panescu J, Fix D, et al. Screening for the Lvnch syndrome (hereditary nonpolyposis colorectal cancer). NEngl J Med 2005;352:1851 -60.
-
(2005)
NEngl J Med
, vol.352
, pp. 1851-1860
-
-
Hampel, H.1
Frankel, W.L.2
Martin, E.3
Arnold, M.4
Khanduja, K.5
Kuebler, P.6
Nakagawa, H.7
Sotamaa, K.8
Prior, T.W.9
Westman, J.10
Panescu, J.11
Fix, D.12
-
21
-
-
0003657890
-
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
-
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
-
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
-
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
-
-
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.
-
-
-
-
26
-
-
0034799747
-
SI artery ML. The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer
-
Samowitz WS, Curtin K, Lin HH, Robertson MA, Schaffer D, Nichols M, Gruenthal K, Leppert MF, SI artery ML. 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
Robertson, M.A.4
Schaffer, D.5
Nichols, M.6
Gruenthal, K.7
Leppert, M.F.8
-
27
-
-
0035478506
-
Molecular screening for hereditary nonpolyposis colorectal cancer: A prospective, population-based study
-
Percesepe A, Borghi F, Menigatti M, Losi L, Foroni M, Di Gregorio C, Rossi G, Pedroni M, Sala E, Vaccina F, Roncucci L, Benatti P, et al. Molecular screening for hereditary nonpolyposis colorectal cancer: a prospective, population-based study. J Clin Oncol 2001;19:3944-50.
-
(2001)
J Clin Oncol
, vol.19
, pp. 3944-3950
-
-
Percesepe, A.1
Borghi, F.2
Menigatti, M.3
Losi, L.4
Foroni, M.5
Di Gregorio, C.6
Rossi, G.7
Pedroni, M.8
Sala, E.9
Vaccina, F.10
Roncucci, L.11
Benatti, P.12
-
28
-
-
0034827025
-
The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas
-
Cunningham JM, Kim CY, Christensen ER, Tester DJ, Pare Y, Burgart LI, Hailing KG, McDonnell SK, Schaid DJ, Walsh Vockley C Kubly V, Nelson H, et al. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet 2001 ;69:780-90.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 780-790
-
-
Cunningham, J.M.1
Kim, C.Y.2
Christensen, E.R.3
Tester, D.J.4
Pare, Y.5
Burgart, L.I.6
Hailing, K.G.7
McDonnell, S.K.8
Schaid, D.J.9
Walsh Vockley, C.10
Kubly, V.11
Nelson, H.12
-
29
-
-
0036136726
-
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
-
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
-
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
-
32
-
-
29744435357
-
Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining
-
Mangold E, Pagenstecher C, Friedl W, Fischer HP, Merkelbach-Bruse S, Ohlendorf M, Friedrichs N, Aretz S, Buettner R, Propping P, Mathiak M, Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining. J Pathol 2005;207:385-95.
-
(2005)
J Pathol
, vol.207
, pp. 385-395
-
-
Mangold, E.1
Pagenstecher, C.2
Friedl, W.3
Fischer, H.P.4
Merkelbach-Bruse, S.5
Ohlendorf, M.6
Friedrichs, N.7
Aretz, S.8
Buettner, R.9
Propping, P.10
Mathiak, M.11
-
33
-
-
11144279281
-
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
-
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
-
35
-
-
27944464473
-
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, Pagenstecher C, Plaschke I. Kloor M, Poremba C, Pox CP, Riischoff I, Keller G, Dietmaier W, Rüramele P, et al. 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
Pagenstecher, C.4
Plaschke, I.5
Kloor, M.6
Poremba, C.7
Pox, C.P.8
Riischoff, I.9
Keller, G.10
Dietmaier, W.11
Rüramele, P.12
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