-
1
-
-
0029862873
-
Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis
-
DOI 10.1053/gast.1996.v110.pm8612988
-
Vasen HF, Wijnen JT, Menko FH, et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 1996;110:1020-1027 (Pubitemid 26113739)
-
(1996)
Gastroenterology
, vol.110
, Issue.4
, pp. 1020-1027
-
-
Vasen, H.F.A.1
Wijnen, J.T.2
Menko, F.H.3
Kleibeuker, J.H.4
Taal, B.G.5
Griffioen, G.6
Nagengast, F.M.7
Meuers-Heijboer, E.H.8
Bertario, L.9
Varesco, L.10
Bisgaard -, M.L.11
Mohr, J.12
Fodde, R.13
Khan, P.M.14
-
2
-
-
0029089259
-
Hereditary nonpolyposis colorectal cancer: The syndrome, the genes, and historical perspectives
-
Marra G and Boland CR. Hereditary nonpolyposis colorectal cancer: the syndrome, the genes, and historical perspectives. J Natl Cancer Inst 1995;87:1114-1125
-
(1995)
J Natl Cancer Inst
, vol.87
, pp. 1114-1125
-
-
Marra, G.1
Boland, C.R.2
-
3
-
-
4944240144
-
Genetic predisposition to colorectal cancer
-
de la Chapelle A. Genetic predisposition to colorectal cancer. Nat Rev Cancer 2004;4:769-780
-
(2004)
Nat Rev Cancer
, vol.4
, pp. 769-780
-
-
De La Chapelle, A.1
-
4
-
-
33847794097
-
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics
-
DOI 10.1093/jnci/djk051
-
Lagerstedt Robinson K, Liu T, Vandrovcova J, et al. Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. J Natl Cancer Inst 2007;99:291-299 (Pubitemid 47073492)
-
(2007)
Journal of the National Cancer Institute
, vol.99
, Issue.4
, pp. 291-299
-
-
Lagerstedt Robinson, K.1
Liu, T.2
Vandrovcova, J.3
Halvarsson, B.4
Clendenning, M.5
Frebourg, T.6
Papadopoulos, N.7
Kinzler, K.W.8
Vogelstein, B.9
Peltomaki, P.10
Kolodner, R.D.11
Nilbert, M.12
Lindblom, A.13
-
5
-
-
13844251880
-
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer
-
DOI 10.1001/jama.293.7.799
-
Casey G, Lindor NM, Papadopoulos N, et al. Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. JAMA 2005;293:799-809. (Pubitemid 40250363)
-
(2005)
Journal of the American Medical Association
, vol.293
, Issue.7
, pp. 799-809
-
-
Casey, G.1
Lindor, N.M.2
Papadopoulos, N.3
Thibodeau, S.N.4
Moskow, J.5
Steelman, S.6
Buzin, C.H.7
Sommer, S.S.8
Collins, C.E.9
Butz, M.10
Aronson, M.11
Gallinger, S.12
Barker, M.A.13
Young, J.P.14
Jass, J.R.15
Hopper, J.L.16
Diep, A.17
Bapat, B.18
Salem, M.19
Seminara, D.20
Haile, R.21
more..
-
6
-
-
4544310802
-
Mutations associated with HNPCC predisposition - Update of ICG-HNPCC/INSiGHT mutation database
-
Lynch Syndrome (HNPCC) and Microsatellite Instability
-
Peltomaki P, Vasen H. Mutations associated with HNPCC predisposition - update of ICG-HNPCC/INSiGHT mutation database. Dis Markers 2004;20:269-276 (Pubitemid 40164099)
-
(2004)
Disease Markers
, vol.20
, Issue.4-5
, pp. 269-276
-
-
Peltomaki, P.1
Vasen, H.2
-
7
-
-
48549099663
-
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
-
Senter L, Clendenning M, Sotamaa K, et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 2008;135:419-428
-
(2008)
Gastroenterology
, vol.135
, pp. 419-428
-
-
Senter, L.1
Clendenning, M.2
Sotamaa, K.3
-
8
-
-
0001628596
-
Familial endometrial cancer in female carriers of MSH6 germline mutations [3]
-
DOI 10.1038/13773
-
Wijnen J, de Leeuw W, Vasen H, et al. Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet 1999;23:142-144 (Pubitemid 29455383)
-
(1999)
Nature Genetics
, vol.23
, Issue.2
, pp. 142-144
-
-
Wijnen, J.1
De Leeuw, W.2
Vasen, H.3
Van Der Klift, H.4
Moller, P.5
Stormorken, A.6
Meijers-Heijboer, H.7
Lindhout, D.8
Menko, F.9
Vossen, S.10
Moslein, G.11
Tops, C.12
Brocker-Vriends, A.13
Wu, Y.14
Hofstra, R.15
Sijmons, R.16
Cornelisse, C.17
Morreau, H.18
Fodde, R.19
-
9
-
-
3242670404
-
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: Impact on counseling and surveillance
-
DOI 10.1053/j.gastro.2004.03.068, PII S0016508504005785
-
Hendriks YM, Wagner A, Morreau H, et al. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology 2004;127:17-25. (Pubitemid 38962270)
-
(2004)
Gastroenterology
, vol.127
, Issue.1
, pp. 17-25
-
-
Hendriks, Y.M.C.1
Wagner, A.2
Morreau, H.3
Menko, F.4
Stormorken, A.5
Quehenberger, F.6
Sandkuijl, L.7
Moller, P.8
Genuardi, M.9
Van Houwelingen, H.10
Tops, C.11
Van Puijenbroek, M.12
Verkuijlen, P.13
Kenter, G.14
Van Mil, A.15
Meijers-Heijboer, H.16
Tan, G.B.17
Breuning, M.H.18
Fodde, R.19
Wijnen, J.T.H.20
Brocker-Vriends, A.H.J.T.21
Vasen, H.22
more..
-
10
-
-
0032749569
-
Germ-line msh6 mutations in colorectal cancer families
-
Kolodner RD, Tytell JD, Schmeits JL, et al. Germ-line msh6 mutations in colorectal cancer families. Cancer Res 1999;59:5068-5074 (Pubitemid 29503960)
-
(1999)
Cancer Research
, vol.59
, Issue.20
, pp. 5068-5074
-
-
Kolodner, R.D.1
Tytell, J.D.2
Schmeits, J.L.3
Kane, M.F.4
Gupta, R.D.5
Weger, J.6
Wahlberg, S.7
Fox, E.A.8
Peel, D.9
Ziogas, A.10
Garber, J.E.11
Syngal, S.12
Anton-Culver, H.13
Li, F.P.14
-
11
-
-
33747871345
-
Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients
-
DOI 10.1158/0008-5472.CAN-06-1114
-
Hampel H, Frankel W, Panescu J, et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 2006;66:7810-7817 (Pubitemid 44289242)
-
(2006)
Cancer Research
, vol.66
, Issue.15
, pp. 7810-7817
-
-
Hampel, H.1
Frankel, W.2
Panescu, J.3
Lockman, J.4
Sotamaa, K.5
Fix, D.6
Comeras, I.7
La Jeunesse, J.8
Nakagawa, H.9
Westman, J.A.10
Prior, T.W.11
Clendenning, M.12
Penzone, P.13
Lombardi, J.14
Dunn, P.15
Cohn, D.E.16
Copeland, L.17
Eaton, L.18
Fowler, J.19
Lewandowski, G.20
Vaccarello, L.21
Bell, J.22
Reid, G.23
De La Chapelle, A.24
more..
-
12
-
-
0030870631
-
Germ-line mutation of the hmSH6/GTPB gene in an atypical hereditary nonpolyposis colerectal cancer kindred
-
Akiyama Y, Sato H, Yamada T, et al. Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res 1997;57:3920-3923 (Pubitemid 27427676)
-
(1997)
Cancer Research
, vol.57
, Issue.18
, pp. 3920-3923
-
-
Akiyama, Y.1
Sato, H.2
Yamada, T.3
Nagasaki, H.4
Tsuchiya, A.5
Abe, R.6
Yuasa, Y.7
-
13
-
-
0031278322
-
Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer
-
Miyaki M, Konishi M, Tanaka K, et al. Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 1997;17:271-272
-
(1997)
Nat Genet
, vol.17
, pp. 271-272
-
-
Miyaki, M.1
Konishi, M.2
Tanaka, K.3
-
14
-
-
0037099602
-
A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor
-
Gazzoli I, Loda M, Garber J, et al. A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor. Cancer Res 2002;62:3925-3928 (Pubitemid 34791053)
-
(2002)
Cancer Research
, vol.62
, Issue.14
, pp. 3925-3928
-
-
Gazzoli, I.1
Loda, M.2
Garber, J.3
Syngal, S.4
Kolodner, R.D.5
-
15
-
-
33846973361
-
Inheritance of a cancer-associated MLH1 germ-line epimutation
-
DOI 10.1056/NEJMoa064522
-
Hitchins MP, Wong JJ, Suthers G, et al. Inheritance of a cancer-associated MLH1 germ-line epimutation. N Engl J Med 2007;356:697-705. (Pubitemid 46257232)
-
(2007)
New England Journal of Medicine
, vol.356
, Issue.7
, pp. 697-705
-
-
Hitchins, M.P.1
Wong, J.J.L.2
Suthers, G.3
Suter, C.M.4
Martin, D.I.K.5
Hawkins, N.J.6
Ward, R.L.7
-
16
-
-
58149144567
-
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1
-
Ligtenberg MJ, Kuiper RP, Chan TL, et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1. Nat Genet 2008;4:112-117
-
(2008)
Nat Genet
, vol.4
, pp. 112-117
-
-
Ligtenberg, M.J.1
Kuiper, R.P.2
Chan, T.L.3
-
17
-
-
24944480082
-
Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC)
-
DOI 10.1002/gcc.20219
-
van der Klift H, Wijnen J, Wagner A, et al. Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC). Genes Chromosomes Cancer 2005;44:123-138 (Pubitemid 41306641)
-
(2005)
Genes Chromosomes and Cancer
, vol.44
, Issue.2
, pp. 123-138
-
-
Van Der Klift, H.1
Wijnen, J.2
Wagner, A.3
Verkuilen, P.4
Tops, C.5
Otway, R.6
Kohonen-Corish, M.7
Vasen, H.8
Oliani, C.9
Barana, D.10
Moller, P.11
Delozier-Blanchet, C.12
Hutter, P.13
Foulkes, W.14
Lynch, H.15
Burn, J.16
Moslein, G.17
Fodde, R.18
-
18
-
-
3042700124
-
The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer
-
DOI 10.1038/ng1374
-
Lipkin SM, Rozek LS, Rennert G, et al. The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer. Nat Genet 2004;36:694-699 (Pubitemid 38886629)
-
(2004)
Nature Genetics
, vol.36
, Issue.7
, pp. 694-699
-
-
Lipkin, S.M.1
Rozek, L.S.2
Rennert, G.3
Yang, W.4
Chen, P.-C.5
Hacia, J.6
Hunt, N.7
Shin, B.8
Fodor, S.9
Kokoris, M.10
Greenson, J.K.11
Fearon, E.12
Lynch, H.13
Collins, F.14
Gruber, S.B.15
-
19
-
-
34047272113
-
MLH1 -93G>A promoter polymorphism and the risk of microsatellite- unstable colorectal cancer
-
DOI 10.1093/jnci/djk095
-
Raptis S, Mrkonjic M, Green RC, et al. MLH1 -93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer. J Natl Cancer Inst 2007;99:463-474 (Pubitemid 47078735)
-
(2007)
Journal of the National Cancer Institute
, vol.99
, Issue.6
, pp. 463-474
-
-
Raptis, S.1
Mrkonjic, M.2
Green, R.C.3
Pethe, V.V.4
Monga, N.5
Chan, Y.M.6
Daftary, D.7
Dicks, E.8
Younghusband, B.H.9
Parfrey, P.S.10
Gallinger, S.S.11
McLaughlin, J.R.12
Knight, J.A.13
Bapat, B.14
-
20
-
-
37049021171
-
MSH2 -118T>C and MSH6 -159C>T promoter polymorphisms and the risk of colorectal cancer
-
DOI 10.1093/carcin/bgm229
-
Mrkonjic M, Raptis S, Green RC, et al. MSH2 118T>C and MSH6 159C>T promoter polymorphisms and the risk of colorectal cancer. Carcinogenesis 2007;28:2575-2580 (Pubitemid 350244403)
-
(2007)
Carcinogenesis
, vol.28
, Issue.12
, pp. 2575-2580
-
-
Mrkonjic, M.1
Raptis, S.2
Green, R.C.3
Monga, N.4
Daftary, D.5
Dicks, E.6
Younghusband, H.B.7
Parfrey, P.S.8
Gallinger, S.S.9
Mclaughlin, J.R.10
Knight, J.A.11
Bapat, B.12
-
21
-
-
2942569549
-
Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients
-
DOI 10.1038/nm0296-169
-
Liu B, Parsons R, Papadopoulos N, et al. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med 1996;2:169-174 (Pubitemid 26057553)
-
(1996)
Nature Medicine
, vol.2
, Issue.2
, pp. 169-174
-
-
Liu, B.1
Parsons, R.2
Papadopoulos, N.3
Nicolaides, N.C.4
Lynch, H.T.5
Watson, P.6
Jass, J.R.7
Dunlop, M.8
Wyllie, A.9
Peltomaki, P.10
De La Chapelle, A.11
Hamilton, S.R.12
Vogelstein, B.13
Kinzler, K.W.14
-
22
-
-
0034011564
-
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;118:829-834 (Pubitemid 30243745)
-
(2000)
Gastroenterology
, vol.118
, Issue.5
, pp. 829-834
-
-
Jarvinen, H.J.1
Aarnio, M.2
Mustonen, H.3
Aktancollan, K.4
Aaltonen, L.A.5
Peltomaki, P.6
Chapelle, A.D.L.7
Mecklin, J.8
-
23
-
-
29144505362
-
Long term follow-up of HNPCC gene mutation carriers: Compliance with screening and satisfaction with counseling and screening procedures
-
DOI 10.1007/s10689-005-0658-9
-
Wagner A, van Kessel I, Kriege MG, et al. 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)
-
(2005)
Familial Cancer
, vol.4
, Issue.4
, pp. 295-300
-
-
Wagner, A.1
Van Kessel, I.2
Kriege, M.G.3
Tops, C.M.J.4
Wijnen, J.T.5
Vasen, H.F.A.6
Van Der Meer, C.A.7
Van Oostrom, I.I.H.8
Meijers-Heijboer, H.9
-
24
-
-
0025848680
-
The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)
-
Vasen HF, Mecklin JP, Khan PM, et al. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991;34:424-425
-
(1991)
Dis Colon Rectum
, vol.34
, pp. 424-425
-
-
Vasen, H.F.1
Mecklin, J.P.2
Khan, P.M.3
-
25
-
-
10744233937
-
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;96:261-268 (Pubitemid 38256271)
-
(2004)
Journal of the National Cancer Institute
, vol.96
, Issue.4
, pp. 261-268
-
-
Umar, A.1
Boland, C.R.2
Terdiman, J.P.3
Syngal, S.4
De La Chapelle, A.5
Ruschoff, J.6
Fishel, R.7
Lindor, N.M.8
Burgart, L.J.9
Hamelin, R.10
Hamilton, S.R.11
Hiatt, R.A.12
Jass, J.13
Lindblom, A.14
Lynch, H.T.15
Peltomaki, P.16
Ramsey, S.D.17
Rodriguez-Bigas, M.A.18
Vasen, H.F.A.19
Hawk, E.T.20
Barrett, J.C.21
Freedman, A.N.22
Srivastava, S.23
more..
-
26
-
-
0031551963
-
National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: Meeting highlights and Bethesda guidelines
-
Rodriguez-Bigas MA, Boland CR, Hamilton SR, et al. National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997;89:1758-1762
-
(1997)
J Natl Cancer Inst
, vol.89
, pp. 1758-1762
-
-
Rodriguez-Bigas, M.A.1
Boland, C.R.2
Hamilton, S.R.3
-
27
-
-
0033063711
-
New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC
-
DOI 10.1016/S0016-5085(99)70510-X
-
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;116:1453-1456 (Pubitemid 29258894)
-
(1999)
Gastroenterology
, vol.116
, Issue.6
, pp. 1453-1456
-
-
Vasen, H.F.A.1
Watson, P.2
Mecklin, J.-P.3
Lynch, H.T.4
-
28
-
-
0033825587
-
Sensitivity and specificity of clinical criteria for hereditary nonpolyposis colorectal cancer associated mutations in MSH2 and MLH1
-
Syngal S, Fox EA, Eng C, et al. Sensitivity and specificity of clinical criteria for hereditary nonpolyposis colorectal cancer associated mutations in MSH2 and MLH1. J Med Genet 2000;37:641-645
-
(2000)
J Med Genet
, vol.37
, pp. 641-645
-
-
Syngal, S.1
Fox, E.A.2
Eng, C.3
-
29
-
-
33646560325
-
Clinical performance of original and revised Bethesda guidelines for the identification of MSH2/MLH1 gene carriers in patients with newly diagnosed colorectal cancer: Proposal of a new and simpler set of recommendations
-
DOI 10.1111/j.1572-0241.2006.00522.x
-
Rodriguez-Moranta F, Castells A, Andreu M, et al. Clinical performance of original and revised Bethesda guidelines for the identification of MSH2/MLH1 gene carriers in patients with newly diagnosed colorectal cancer: proposal of a new and simpler set of recommendations. Am J Gastroenterol 2006;101:1104-1111 (Pubitemid 43725327)
-
(2006)
American Journal of Gastroenterology
, vol.101
, Issue.5
, pp. 1104-1111
-
-
Rodriguez-Moranta, F.1
Castells, A.2
Andreu, M.3
Pinol, V.4
Castellvi-Bel, S.5
Alenda, C.6
Llor, X.7
Xicola, R.M.8
Jover, R.9
Paya, A.10
Bessa, X.11
Balaguer, F.12
Cubiella, J.13
Arguello, L.14
Morillas, J.D.15
Bujanda, L.16
-
30
-
-
20244386395
-
Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer
-
DOI 10.1001/jama.293.16.1986
-
Pinol V, Castells A, Andreu M, et al. 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)
-
(2005)
Journal of the American Medical Association
, vol.293
, Issue.16
, pp. 1986-1994
-
-
Pinol, V.1
Castells, A.2
Andreu, M.3
Castellvi-Bel, S.4
Alenda, C.5
Llor, X.6
Xicola, R.M.7
Rodriguez-Moranta, F.8
Paya, A.9
Jover, R.10
Bessa, X.11
-
31
-
-
62349128915
-
Prediction of Lynch syndrome in consecutive patients with colorectal cancer
-
Green RC, Parfrey PS, Woods MO, et al. Prediction of Lynch syndrome in consecutive patients with colorectal cancer. J Natl Cancer Inst 2009;101:331-340
-
(2009)
J Natl Cancer Inst
, vol.101
, pp. 331-340
-
-
Green, R.C.1
Parfrey, P.S.2
Woods, M.O.3
-
32
-
-
55849140517
-
Molecular characterization of MSI-H colorectal cancer by MLHI promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening
-
Poynter JN, Siegmund KD, Weisenberger DJ, et al. Molecular characterization of MSI-H colorectal cancer by MLHI promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening. Cancer Epidemiol Biomarkers Prev2008;17:32 08-15.
-
(2008)
Cancer Epidemiol Biomarkers Prev
, vol.17
, pp. 3208-3215
-
-
Poynter, J.N.1
Siegmund, K.D.2
Weisenberger, D.J.3
-
33
-
-
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, et al. 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;62:3485-3492 (Pubitemid 34651396)
-
(2002)
Cancer Research
, vol.62
, Issue.12
, pp. 3485-3492
-
-
Wahlberg, S.S.1
Schmeits, J.2
Thomas, G.3
Loda, M.4
Garber, J.5
Syngal, S.6
Kolodner, R.D.7
Fox, E.8
-
34
-
-
17944362664
-
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;352:1851-1860.
-
(2005)
N Engl J Med
, vol.352
, pp. 1851-1860
-
-
Hampel, H.1
Frankel, W.L.2
Martin, E.3
-
35
-
-
35549009683
-
Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae
-
DOI 10.1534/genetics.107.071084
-
Gammie AE, Erdeniz N, Beaver J, et al. Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. Genetics 2007;177:707-721 (Pubitemid 350005626)
-
(2007)
Genetics
, vol.177
, Issue.2
, pp. 707-721
-
-
Gammie, A.E.1
Erdeniz, N.2
Beaver, J.3
Devlin, B.4
Nanji, A.5
Rose, M.D.6
-
36
-
-
0033591855
-
Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: Implications for clinical predisposition testing
-
DOI 10.1001/jama.282.3.247
-
Syngal S, Fox EA, Li C, et al. Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing. JAMA 1999;282:247-253 (Pubitemid 29343167)
-
(1999)
Journal of the American Medical Association
, vol.282
, Issue.3
, pp. 247-253
-
-
Syngal, S.1
Fox, E.A.2
Li, C.3
Dovidio, M.4
Eng, C.5
Kolodner, R.D.6
Garber, J.E.7
-
37
-
-
0028849441
-
Genomic organization of the human PMS2 gene family
-
Nicolaides NC, Carter KC, Shell BK, et al. Genomic organization of the human PMS2 gene family. Genomics 1995;30:195-206.
-
(1995)
Genomics
, vol.30
, pp. 195-206
-
-
Nicolaides, N.C.1
Carter, K.C.2
Shell, B.K.3
-
38
-
-
2342506542
-
Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome
-
DOI 10.1086/420796
-
De Vos M, Hayward BE, Picton S, et al. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. Am J Hum Genet 2004;74:954-964 (Pubitemid 38568968)
-
(2004)
American Journal of Human Genetics
, vol.74
, Issue.5
, pp. 954-964
-
-
De Vos, M.1
Hayward, B.E.2
Picton, S.3
Sheridan, E.4
Bonthron, D.T.5
-
39
-
-
3142748325
-
Mismatch repair gene PMS2: Disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation
-
DOI 10.1158/0008-5472.CAN-03-2879
-
Nakagawa H, Lockman JC, Frankel WL, et al. Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. Cancer Res 2004;64:4721-4727 (Pubitemid 38924513)
-
(2004)
Cancer Research
, vol.64
, Issue.14
, pp. 4721-4727
-
-
Nakagawa, H.1
Lockman, J.C.2
Frankel, W.L.3
Hampel, H.4
Steenblock, K.5
Burgart, L.J.6
Thibodeau, S.N.7
De La Chapelle, A.8
-
40
-
-
0028784167
-
Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines
-
Boyer JC, Umar A, Risinger JI, et al. Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines. Cancer Res 1995;55:6063-6070
-
(1995)
Cancer Res
, vol.55
, pp. 6063-6070
-
-
Boyer, J.C.1
Umar, A.2
Risinger, J.I.3
-
41
-
-
0031017268
-
Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines
-
Kane MF, Loda M, Gaida GM, et al. Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res 1997;57:808-811 (Pubitemid 27097998)
-
(1997)
Cancer Research
, vol.57
, Issue.5
, 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
-
42
-
-
13144266670
-
Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma
-
DOI 10.1073/pnas.95.12.6870
-
Herman JG, Umar A, Polyak K, et al. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci U S A 1998;95:6870-6875 (Pubitemid 28278073)
-
(1998)
Proceedings of the National Academy of Sciences of the United States of America
, vol.95
, Issue.12
, pp. 6870-6875
-
-
Herman, J.G.1
Umar, A.2
Polyak, K.3
Graff, J.R.4
Ahuja, N.5
Issa, J.-P.J.6
Markowitz, S.7
Willson, J.K.V.8
Hamilton, S.R.9
Kinzler, K.W.10
Kane, M.F.11
Kolodner, R.D.12
Vogelstein, B.13
Kunkel, T.A.14
Baylin, S.B.15
-
43
-
-
13144307115
-
Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers
-
DOI 10.1073/pnas.95.15.8698
-
Veigl ML, Kasturi L, Olechnowicz J, et al. Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers. Proc Natl Acad Sci U S A 1998;95:8698-8702 (Pubitemid 28350551)
-
(1998)
Proceedings of the National Academy of Sciences of the United States of America
, vol.95
, Issue.15
, pp. 8698-8702
-
-
Veigl, M.L.1
Kasturi, L.2
Olechnowicz, J.3
Ma, A.4
Lutterbaugh, J.D.5
Periyasamy, S.6
Li, G.-M.7
Drummond, J.8
Modrich, P.L.9
Sedwick, W.D.10
Markowitz, S.D.11
-
44
-
-
0032534069
-
A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer
-
Boland CR, Thibodeau SN, Hamilton SR, et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998;58:5248-5257
-
(1998)
Cancer Res
, vol.58
, pp. 5248-5257
-
-
Boland, C.R.1
Thibodeau, S.N.2
Hamilton, S.R.3
-
45
-
-
0030778613
-
Diagnostic microsatellite instability: Definition and correlation with mismatch repair protein expression
-
Dietmaier W, Wallinger S, Bocker T, et al. Diagnostic microsatellite instability: definition and correlation with mismatch repair protein expression. Cancer Res 1997;57:4749-4756 (Pubitemid 27468981)
-
(1997)
Cancer Research
, vol.57
, Issue.21
, pp. 4749-4756
-
-
Dietmaier, W.1
Wallinger, S.2
Bocker, T.3
Kullmann, F.4
Fishel, R.5
Ruschoff, J.6
-
46
-
-
1542377400
-
Clinical Presentation Correlates with the Type of Mismatch Repair Gene Involved in Hereditary Nonpolyposis Colon Cancer [3]
-
DOI 10.1053/j.gastro.2004.01.038
-
Bandipalliam P, Garber J, Kolodner RD, et al. Clinical presentation correlates with the type of mismatch repair gene involved in hereditary nonpolyposis colon cancer. Gastroenterology 2004;126:936-937 (Pubitemid 38298343)
-
(2004)
Gastroenterology
, vol.126
, Issue.3
, pp. 936-937
-
-
Bandipalliam, P.1
Garber, J.2
Syngal, S.3
Kolodner, R.D.4
-
47
-
-
33846673079
-
Distinct patterns of germ-line deletions in MLH1 and MSH2: The implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC)
-
Li L, McVety S, Younan R, et al. Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC). Hum Mutat 2006;27:388.
-
(2006)
Hum Mutat
, vol.27
, pp. 388
-
-
Li, L.1
McVety, S.2
Younan, R.3
-
48
-
-
0142124795
-
Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques
-
Nakagawa H, Hampel H, de la Chapelle A. Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques. Hum Mutat 2003;22:258.
-
(2003)
Hum Mutat
, vol.22
, pp. 258
-
-
Nakagawa, H.1
Hampel, H.2
De La Chapelle, A.3
-
49
-
-
0036413790
-
Different molecular mechanisms underlie genomic deletions in the MLH1 gene
-
DOI 10.1002/humu.10138
-
Viel A, Petronzelli F, Della Puppa L, et al. Different molecular mechanisms underlie genomic deletions in the MLH1 gene. Hum Mutat 2002;20:368-374 (Pubitemid 35285055)
-
(2002)
Human Mutation
, vol.20
, Issue.5
, pp. 368-374
-
-
Viel, A.1
Petronzelli, F.2
Della Puppa, L.3
Lucci-Cordisco, E.4
Fornasarig, M.5
Pucciarelli, S.6
Rovella, V.7
Quaia, M.8
Ponz De Leon, M.9
Boiocchi, M.10
Genuardi, M.11
-
50
-
-
33748993725
-
Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements
-
DOI 10.1002/humu.20386
-
De Lellis L, Curia MC, Catalano T, et al. Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements. Hum Mutat 2006;27:1047-1056 (Pubitemid 44454058)
-
(2006)
Human Mutation
, vol.27
, Issue.10
, pp. 1047-1056
-
-
De Lellis, L.1
Curia, M.C.2
Catalano, T.3
De Toffol, S.4
Bassi, C.5
Mareni, C.6
Bertario, L.7
Battista, P.8
Mariani-Costantini, R.9
Radice, P.10
Cama, A.11
-
51
-
-
9144274423
-
Structure of the MutL C-terminal domain: A model of intact MutL and its roles in mismatch repair
-
DOI 10.1038/sj.emboj.7600412
-
Guarne A, Ramon-Maiques S, Wolff EM, et al. Structure of the MutL C-terminal domain: a model of intact MutL and its roles in mismatch repair. EMBO J 2004;23:4134-4145 (Pubitemid 39546152)
-
(2004)
EMBO Journal
, vol.23
, Issue.21
, pp. 4134-4145
-
-
Guarne, A.1
Ramon-Maiques, S.2
Wolff, E.M.3
Ghirlando, R.4
Hu, X.5
Miller, J.H.6
Yang, W.7
-
52
-
-
0033847512
-
Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers
-
Kuismanen SA, Holmberg MT, Salovaara R, et al. Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers. Am J Pathol 2000;156:1773-1779 (Pubitemid 30646714)
-
(2000)
American Journal of Pathology
, vol.156
, Issue.5
, pp. 1773-1779
-
-
Kuismanen, S.A.1
Holmberg, M.T.2
Salovaara, R.3
De La Chapell, A.4
Peltomaki, P.5
-
53
-
-
0027306173
-
Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair
-
DOI 10.1038/365274a0
-
Strand M, Prolla TA, Liskay RM, et al. Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature 1993;365:274-276 (Pubitemid 23282090)
-
(1993)
Nature
, vol.365
, Issue.6443
, pp. 274-276
-
-
Strand, M.1
Prolla, T.A.2
Liskay, R.M.3
Petes, T.D.4
-
54
-
-
44449147948
-
Role of mismatch repair and MGMT in response to anticancer therapies
-
DOI 10.2174/187152008784220276
-
Casorelli I, Russo MT, Bignami M. Role of mismatch repair and MGMT in response to anticancer therapies. Anticancer Agents Med Chem 2008;8:368-380 (Pubitemid 351761422)
-
(2008)
Anti-Cancer Agents in Medicinal Chemistry
, vol.8
, Issue.4
, pp. 368-380
-
-
Casorelli, I.1
Russo, M.T.2
Bignami, M.3
-
55
-
-
14044264185
-
DNA mismatch repair-dependent response to fluoropyrimidine-generated damage
-
DOI 10.1074/jbc.M412105200
-
Meyers M, Wagner MW, Mazurek A, et al. DNA mismatch repair-dependent response to fluoropyrimidine-generated damage. J Biol Chem 2005;280:5516-5526 (Pubitemid 40280029)
-
(2005)
Journal of Biological Chemistry
, vol.280
, Issue.7
, pp. 5516-5526
-
-
Meyers, M.1
Wagner, M.W.2
Mazurek, A.3
Schmutte, C.4
Fishel, R.5
Boothman, D.A.6
-
56
-
-
0035033581
-
Atypical HNPCC owing to MSH6 germline mutations: Analysis of a large Dutch pedigree
-
Wagner A, Hendriks Y, Meijers-Heijboer EJ, et al. Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. J Med Genet 2001;38:318-322 (Pubitemid 32433985)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.5
, pp. 318-322
-
-
Wagner, A.1
Hendriks, Y.2
Meijers-Heijboer, E.J.3
De Leeuw, W.J.F.4
Morreau, H.5
Hofstra, R.6
Tops, C.7
Bik, E.8
Brocker-Vriends, A.H.J.T.9
Van Der Meer, C.10
Lindhout, D.11
Vasen, H.F.A.12
Breuning, M.H.13
Cornelisse, C.J.14
Van Krimpen, C.15
Niermeijer, M.F.16
Zwinderman, A.H.17
Wijnen, J.18
Fodde, R.19
|