-
1
-
-
4444311092
-
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing
-
DOI 10.1136/jmg.2004.020651
-
Domingo E, Laiho P, Ollikainen M, et al. BRAF screening as a lowcost effective strategy for simplifying HNPCC genetic testing. J Med Genet. 2004;41:664-668. (Pubitemid 39208606)
-
(2004)
Journal of Medical Genetics
, vol.41
, Issue.9
, 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
Hofstra, R.M.W.13
Seruca, R.14
Lindblom, A.15
Peltomaki, P.16
Thibodeau, S.N.17
Aaltonen, L.A.18
Schwartz Jr., S.19
-
2
-
-
59849108362
-
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
-
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
-
-
-
3
-
-
0035117962
-
Detection of aberrantly methylated hMLH1 promoter DNA in the serum of patients with microsatellite unstable colon cancer
-
Grady WM, Aajput A, Lutterbaugh JD, et al. Detection of aberrantly methylated hMLH1 promoter DNA in the serum of patients with microsatellite unstable colon cancer. Cancer Res. 2001;61:900-902. (Pubitemid 32174399)
-
(2001)
Cancer Research
, vol.61
, Issue.3
, pp. 900-902
-
-
Grady, W.M.1
Rajput, A.2
Lutterbaugh, J.D.3
Markowitz, S.D.4
-
4
-
-
33845523843
-
The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer
-
DOI 10.1007/s10689-006-0005-9
-
Halvarsson B, Lindblom A, Rambech E, et al. The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer. Fam Cancer. 2006;5:353-358. (Pubitemid 44924111)
-
(2006)
Familial Cancer
, vol.5
, Issue.4
, pp. 353-358
-
-
Halvarsson, B.1
Lindblom, A.2
Rambech, E.3
Lagerstedt, K.4
Nilbert, M.5
-
5
-
-
57449097359
-
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;26:5783-5788.
-
(2008)
J Clin Oncol
, vol.26
, pp. 5783-5788
-
-
Hampel, H.1
Frankel, W.L.2
Martin, E.3
-
6
-
-
27744447434
-
MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer
-
DOI 10.1053/j.gastro.2005.09.003, PII S0016508505017877
-
Hitchins M, Williams R, Cheong K, et al. MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. Gastroenterology. 2005;129:1392-1399. (Pubitemid 41597381)
-
(2005)
Gastroenterology
, vol.129
, Issue.5
, pp. 1392-1399
-
-
Hitchins, M.1
Williams, R.2
Cheong, K.3
Halani, N.4
Lin, V.A.P.5
Packham, D.6
Ku, S.7
Buckle, A.8
Hawkins, N.9
Burn, J.10
Gallinger, S.11
Goldblatt, J.12
Kirk, J.13
Tomlinson, I.14
Scott, R.15
Spigelman, A.16
Suter, C.17
Martin, D.18
Suthers, G.19
Ward, R.20
more..
-
7
-
-
4043104159
-
Real-time allele-specific amplification for sensitive detection of the BRAF mutation V600E
-
DOI 10.1016/j.mcp.2004.05.004, PII S0890850804000490
-
Jarry A, Masson D, Cassagnau E, et al. Real-time allele-specific amplification for sensitive detection of the BRAF mutation V600E. Mol Cell Probes. 2004;18:349-352. (Pubitemid 39061042)
-
(2004)
Molecular and Cellular Probes
, vol.18
, Issue.5
, pp. 349-352
-
-
Jarry, A.1
Masson, D.2
Cassagnau, E.3
Parois, S.4
Laboisse, C.5
Denis, M.G.6
-
8
-
-
16544364390
-
HNPCC and sporadic MSI-H colorectal cancer: A review of the morphological similarities and differences
-
DOI 10.1023/B:FAME.0000039849.86008.b7
-
Jass JR. HNPCC and sporadic MSI-H colorectal cancer: a review of the morphological similarities and differences. Fam Cancer. 2004; 3:93-100. (Pubitemid 40645890)
-
(2004)
Familial Cancer
, vol.3
, Issue.2
, pp. 93-100
-
-
Jass, J.R.1
-
9
-
-
0037443773
-
Frequency of loss of hMLH1 expression in colorectal carcinoma increases with advancing age
-
DOI 10.1002/cncr.11206
-
Kakar S, Burgart LJ, Thibodeau SN, et al. Frequency of loss of hMLH1 expression in colorectal carcinoma increases with advancing age. Cancer. 2003;97:1421-1427. (Pubitemid 36297771)
-
(2003)
Cancer
, vol.97
, Issue.6
, pp. 1421-1427
-
-
Kakar, S.1
Burgart, L.J.2
Thibodeau, S.N.3
Rabe, K.G.4
Petersen, G.M.5
Goldberg, R.M.6
Lindor, N.M.7
-
10
-
-
38049046496
-
Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome
-
Lehmann U. Re: Rahner, et al. Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome. J Pathol. 2008;214:10-16.
-
(2008)
J Pathol
, vol.214
, pp. 10-16
-
-
Lehmann, U.1
Rahner, R.2
-
12
-
-
67650924286
-
Review of the Lynch syndrome: History, molecular genetics, screening, differential diagnosis, and medicolegal ramifications
-
Lynch HT, Lynch PM, Lanspa SJ, et al. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet. 2009;76:1-18.
-
(2009)
Clin Genet
, vol.76
, pp. 1-18
-
-
Lynch, H.T.1
Lynch, P.M.2
Lanspa, S.J.3
-
13
-
-
45749135888
-
Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC
-
DOI 10.1038/ejhg.2008.25, PII EJHG200825
-
Morak M, Schackert HK, Rahner N, et al. Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC. Eur J Hum Genet. 2008;16:804-811. (Pubitemid 351865678)
-
(2008)
European Journal of Human Genetics
, vol.16
, Issue.7
, pp. 804-811
-
-
Morak, M.1
Schackert, H.K.2
Rahner, N.3
Betz, B.4
Ebert, M.5
Walldorf, C.6
Royer-Pokora, B.7
Schulmann, K.8
Von Knebel-Doeberitz, M.9
Dietmaier, W.10
Keller, G.11
Kerker, B.12
Leitner, G.13
Holinski-Feder, E.14
-
14
-
-
80051679968
-
Challenging cases encountered in colorectal cancer screening for Lynch syndrome reveal novel findings: Nucleolar MSH6 staining and impact of prior chemoradiation therapy
-
Radu OM, Nikiforova MN, Farkas LM, et al. Challenging cases encountered in colorectal cancer screening for Lynch syndrome reveal novel findings: nucleolar MSH6 staining and impact of prior chemoradiation therapy. Hum Pathol. 2011;42:1247-1258.
-
(2011)
Hum Pathol
, vol.42
, pp. 1247-1258
-
-
Radu, O.M.1
Nikiforova, M.N.2
Farkas, L.M.3
-
15
-
-
38049046496
-
Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome
-
Rahner N, Friedrichs N, Steinke V, et al. Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome. J Pathol. 2008;214:10-16.
-
(2008)
J Pathol
, vol.214
, pp. 10-16
-
-
Rahner, N.1
Friedrichs, N.2
Steinke, V.3
-
16
-
-
47649123223
-
Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: Part I. The utility of immunohistochemistry
-
DOI 10.2353/jmoldx.2008.080031
-
Shia J. Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. J Mol Diagn. 2008;10:293-300. (Pubitemid 352019113)
-
(2008)
Journal of Molecular Diagnostics
, vol.10
, Issue.4
, pp. 293-300
-
-
Shia, J.1
-
17
-
-
70350437372
-
Immunohistochemistry as firstline screening for detecting colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: A 2-antibody panel may be as predictive as a 4-antibody panel
-
Shia J, Tang LH, Vakiani E, et al. Immunohistochemistry as firstline screening for detecting colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: a 2-antibody panel may be as predictive as a 4-antibody panel. Am J Surg Pathol. 2009;33:1639-1645.
-
(2009)
Am J Surg Pathol
, vol.33
, pp. 1639-1645
-
-
Shia, J.1
Tang, L.H.2
Vakiani, E.3
-
18
-
-
2442424419
-
Germline epimutation of MLH1 in individuals with multiple cancers
-
DOI 10.1038/ng1342
-
Suter CM, Martin DI, Ward RL. Germline epimutation of MLH1 in individuals with multiple cancers. Nat Genet. 2004;36: 497-501. (Pubitemid 38620035)
-
(2004)
Nature Genetics
, vol.36
, Issue.5
, pp. 497-501
-
-
Suter, C.M.1
Martin, D.I.K.2
Ward, R.L.3
-
19
-
-
47649101956
-
Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: Part II. The utility of microsatellite instability testing
-
DOI 10.2353/jmoldx.2008.080062
-
Zhang L. Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part II. The utility of microsatellite instability testing. J Mol Diagn. 2008;10:301-307. (Pubitemid 352019114)
-
(2008)
Journal of Molecular Diagnostics
, vol.10
, Issue.4
, pp. 301-307
-
-
Zhang, L.1
|