-
1
-
-
0032849832
-
Hereditary nonpolyposis colorectal cancer (HNPCC)
-
10545703 10.1159/000015365 1:STN:280:DC%2BD3c%2FhsVygtg%3D%3D
-
Lynch HT (1999) Hereditary nonpolyposis colorectal cancer (HNPCC). Cytogenet Cell Genet 86:130-135
-
(1999)
Cytogenet Cell Genet
, vol.86
, pp. 130-135
-
-
Lynch, H.T.1
-
2
-
-
0030882381
-
Mutations predisposing to hereditary nonpolyposis colorectal cancer: Database and results of a collaborative study. The International Collaborative Group on hereditary nonpolyposis colorectal cancer
-
9322509 10.1053/gast.1997.v113.pm9322509 1:CAS:528:DyaK2sXmslOlsLg%3D
-
Peltomaki P, Vasen HF (1997) Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on hereditary nonpolyposis colorectal cancer. Gastroenterology 113:1146-1158
-
(1997)
Gastroenterology
, vol.113
, pp. 1146-1158
-
-
Peltomaki, P.1
Vasen, H.F.2
-
3
-
-
0031436048
-
Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer
-
9385369 10.1007/s004390050585 1:CAS:528:DyaK2sXmtlyis7s%3D
-
Tannergard P, Liu T, Weger A, Nordenskjold M, Lindblom A (1997) Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer. Hum Genet 101:51-55
-
(1997)
Hum Genet
, vol.101
, pp. 51-55
-
-
Tannergard, P.1
Liu, T.2
Weger, A.3
Nordenskjold, M.4
Lindblom, A.5
-
4
-
-
4544310802
-
Mutations associated with HNPCC predisposition - Update of ICG-HNPCC/INSiGHT mutation database
-
15528792 10.1155/2004/305058
-
Peltomaki P, Vasen H (2004) Mutations associated with HNPCC predisposition - update of ICG-HNPCC/INSiGHT mutation database. Dis Markers 20:269-276
-
(2004)
Dis Markers
, vol.20
, pp. 269-276
-
-
Peltomaki, P.1
Vasen, H.2
-
5
-
-
74049141478
-
Epigenetics in cancer
-
19752007 10.1093/carcin/bgp220 1:CAS:528:DC%2BC3cXktlCntw%3D%3D
-
Sharma S, Kelly TK, Jones PA (2010) Epigenetics in cancer. Carcinogenesis 31:27-36
-
(2010)
Carcinogenesis
, vol.31
, pp. 27-36
-
-
Sharma, S.1
Kelly, T.K.2
Jones, P.A.3
-
6
-
-
0029919109
-
Hereditary cancer: Two hits revisited
-
8601560 10.1007/BF01366952 1:STN:280:DyaK287otVClsQ%3D%3D
-
Knudson AG (1996) Hereditary cancer: two hits revisited. J Cancer Res Clin Oncol 122:135-140
-
(1996)
J Cancer Res Clin Oncol
, vol.122
, pp. 135-140
-
-
Knudson, A.G.1
-
7
-
-
77953664146
-
Epimutations and cancer predisposition: Importance and mechanisms
-
20359882 10.1016/j.gde.2010.02.005 1:CAS:528:DC%2BC3cXntlCru70%3D
-
Hesson LB, Hitchins MP, Ward RL (2010) Epimutations and cancer predisposition: importance and mechanisms. Curr Opin Genet Dev 20:290-298
-
(2010)
Curr Opin Genet Dev
, vol.20
, pp. 290-298
-
-
Hesson, L.B.1
Hitchins, M.P.2
Ward, R.L.3
-
8
-
-
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
-
12124320 1:CAS:528:DC%2BD38XlsV2ls78%3D
-
Gazzoli I, Loda M, Garber J, Syngal S, Kolodner RD (2002) 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 62:3925-3928
-
(2002)
Cancer Res
, vol.62
, pp. 3925-3928
-
-
Gazzoli, I.1
Loda, M.2
Garber, J.3
Syngal, S.4
Kolodner, R.D.5
-
9
-
-
2442424419
-
Germline epimutation of MLH1 in individuals with multiple cancers
-
15064764 10.1038/ng1342 1:CAS:528:DC%2BD2cXjsFSntrc%3D
-
Suter CM, Martin DI, Ward RL (2004) Germline epimutation of MLH1 in individuals with multiple cancers. Nat Genet 36:497-501
-
(2004)
Nat Genet
, vol.36
, pp. 497-501
-
-
Suter, C.M.1
Martin, D.I.2
Ward, R.L.3
-
10
-
-
27744447434
-
MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer
-
16285940 10.1053/j.gastro.2005.09.003 1:CAS:528:DC%2BD2MXht12hu7fJ
-
Hitchins M, Williams R, Cheong K, Halani N, Lin VA, Packham D, Ku S, Buckle A, Hawkins N, Burn J et al (2005) MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. Gastroenterology 129:1392-1399
-
(2005)
Gastroenterology
, vol.129
, pp. 1392-1399
-
-
Hitchins, M.1
Williams, R.2
Cheong, K.3
Halani, N.4
Lin, V.A.5
Packham, D.6
Ku, S.7
Buckle, A.8
Hawkins, N.9
Burn, J.10
-
11
-
-
10744230172
-
Extensive but hemiallelic methylation of the hMLH1 promoter region in early-onset sporadic colon cancers with microsatellite instability
-
15017620 10.1016/S1542-3565(03)00314-8 1:CAS:528:DC%2BD2cXitlOkt7c%3D
-
Miyakura Y, Sugano K, Akasu T, Yoshida T, Maekawa M, Saitoh S, Sasaki H, Nomizu T, Konishi F, Fujita S et al (2004) Extensive but hemiallelic methylation of the hMLH1 promoter region in early-onset sporadic colon cancers with microsatellite instability. Clin Gastroenterol Hepatol 2:147-156
-
(2004)
Clin Gastroenterol Hepatol
, vol.2
, pp. 147-156
-
-
Miyakura, Y.1
Sugano, K.2
Akasu, T.3
Yoshida, T.4
Maekawa, M.5
Saitoh, S.6
Sasaki, H.7
Nomizu, T.8
Konishi, F.9
Fujita, S.10
-
12
-
-
33846973361
-
Inheritance of a cancer-associated MLH1 germ-line epimutation
-
17301300 10.1056/NEJMoa064522 1:CAS:528:DC%2BD2sXhsleksro%3D
-
Hitchins MP, Wong JJ, Suthers G, Suter CM, Martin DI, Hawkins NJ, Ward RL (2007) Inheritance of a cancer-associated MLH1 germ-line epimutation. N Engl J Med 356:697-705
-
(2007)
N Engl J Med
, vol.356
, pp. 697-705
-
-
Hitchins, M.P.1
Wong, J.J.2
Suthers, G.3
Suter, C.M.4
Martin, D.I.5
Hawkins, N.J.6
Ward, R.L.7
-
13
-
-
45749135888
-
Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC
-
18301449 10.1038/ejhg.2008.25 1:CAS:528:DC%2BD1cXntlCqur4%3D
-
Morak M, Schackert HK, Rahner N, Betz B, Ebert M, Walldorf C, Royer-Pokora B, Schulmann K, von Knebel-Doeberitz M, Dietmaier W et al (2008) 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 16:804-811
-
(2008)
Eur J Hum Genet
, vol.16
, 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
-
14
-
-
78650599981
-
De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one
-
20473912 10.1002/ijc.25422 1:CAS:528:DC%2BC3cXhsF2rtrbK
-
Goel A, Nguyen TP, Leung HC, Nagasaka T, Rhees J, Hotchkiss E, Arnold M, Banerji P, Koi M, Kwok CT et al (2011) De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one. Int J Cancer 128:869-878
-
(2011)
Int J Cancer
, vol.128
, pp. 869-878
-
-
Goel, A.1
Nguyen, T.P.2
Leung, H.C.3
Nagasaka, T.4
Rhees, J.5
Hotchkiss, E.6
Arnold, M.7
Banerji, P.8
Koi, M.9
Kwok, C.T.10
-
15
-
-
35649021295
-
Erasure of MLH1 methylation in spermatozoa-implications for epigenetic inheritance
-
17968340 10.1038/ng1107-1289 1:CAS:528:DC%2BD2sXht1aqurjL
-
Hitchins MP, Ward RL (2007) Erasure of MLH1 methylation in spermatozoa-implications for epigenetic inheritance. Nat Genet 39:1289
-
(2007)
Nat Genet
, vol.39
, pp. 1289
-
-
Hitchins, M.P.1
Ward, R.L.2
-
16
-
-
80051578149
-
Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5′UTR
-
21840485 10.1016/j.ccr.2011.07.003 1:CAS:528:DC%2BC3MXhtVWrt7nF
-
Hitchins MP, Rapkins RW, Kwok CT, Srivastava S, Wong JJ, Khachigian LM, Polly P, Goldblatt J, Ward RL (2011) Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5′UTR. Cancer Cell 20:200-213
-
(2011)
Cancer Cell
, vol.20
, pp. 200-213
-
-
Hitchins, M.P.1
Rapkins, R.W.2
Kwok, C.T.3
Srivastava, S.4
Wong, J.J.5
Khachigian, L.M.6
Polly, P.7
Goldblatt, J.8
Ward, R.L.9
-
17
-
-
84869203280
-
MLH1 methylation screening is effective in identifying epimutation carriers
-
Pineda M, Mur P, Iniesta MD, Borras E, Campos O, Vargas G, Iglesias S, Fernandez A, Gruber SB, Lazaro C, et al. (2012) MLH1 methylation screening is effective in identifying epimutation carriers. Eur J Hum Genet 20:1256-1264
-
Eur J Hum Genet
, vol.20
, pp. 1256-1264
-
-
Pineda, M.1
Mur, P.2
Iniesta, M.D.3
Borras, E.4
Campos, O.5
Vargas, G.6
Iglesias, S.7
Fernandez, A.8
Gruber, S.B.9
Lazaro, C.10
-
18
-
-
79960123568
-
Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort (dagger)
-
Hitchins M, Owens S, Kwok CT, Godsmark G, Algar U, Ramesar R (2011). Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort (dagger). Clin Genet 80:428-434
-
(2011)
Clin Genet
, vol.80
, pp. 428-434
-
-
Hitchins, M.1
Owens, S.2
Kwok, C.T.3
Godsmark, G.4
Algar, U.5
Ramesar, R.6
-
19
-
-
84872063385
-
Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry
-
Ward RL, Dobbins T, Lindor NM, Rapkins RW, Hitchins MP (2013) Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry. Genet Med 15:25-35
-
(2013)
Genet Med
, vol.15
, pp. 25-35
-
-
Ward, R.L.1
Dobbins, T.2
Lindor, N.M.3
Rapkins, R.W.4
Hitchins, M.P.5
-
20
-
-
17444409344
-
Epigenetic reprogramming in mammals
-
15809273 10.1093/hmg/ddi114 1:CAS:528:DC%2BD2MXjsFeksb4%3D
-
Morgan HD, Santos F, Green K, Dean W, Reik W (2005) Epigenetic reprogramming in mammals. Hum Mol Genet 14(1):R47-r58
-
(2005)
Hum Mol Genet
, vol.14
, Issue.1
-
-
Morgan, H.D.1
Santos, F.2
Green, K.3
Dean, W.4
Reik, W.5
-
21
-
-
33847259206
-
MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer
-
17309645 10.1111/j.1399-0004.2007.00751.x 1:STN:280: DC%2BD2s7htVaqsA%3D%3D
-
Valle L, Carbonell P, Fernandez V, Dotor AM, Sanz M, Benitez J, Urioste M (2007) MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer. Clin Genet 71:232-237
-
(2007)
Clin Genet
, vol.71
, pp. 232-237
-
-
Valle, L.1
Carbonell, P.2
Fernandez, V.3
Dotor, A.M.4
Sanz, M.5
Benitez, J.6
Urioste, M.7
-
22
-
-
63449141241
-
MLH1 promoter germline-methylation in selected probands of Chinese hereditary non-polyposis colorectal cancer families
-
19109866 10.3748/wjg.14.7329 1:CAS:528:DC%2BD1MXktlKmt7o%3D
-
Zhou HH, Yan SY, Zhou XY, Du X, Zhang TM, Cai X, Lu YM, Cai SJ, Shi DR (2008) MLH1 promoter germline-methylation in selected probands of Chinese hereditary non-polyposis colorectal cancer families. World J Gastroenterol 14:7329-7334
-
(2008)
World J Gastroenterol
, vol.14
, pp. 7329-7334
-
-
Zhou, H.H.1
Yan, S.Y.2
Zhou, X.Y.3
Du, X.4
Zhang, T.M.5
Cai, X.6
Lu, Y.M.7
Cai, S.J.8
Shi, D.R.9
-
23
-
-
64249108224
-
Large genomic rearrangements and germline epimutations in Lynch syndrome
-
19173287 10.1002/ijc.24230 1:CAS:528:DC%2BD1MXltFaqtr8%3D
-
Gylling A, Ridanpaa M, Vierimaa O, Aittomaki K, Avela K, Kaariainen H, Laivuori H, Poyhonen M, Sallinen SL, Wallgren-Pettersson C et al (2009) Large genomic rearrangements and germline epimutations in Lynch syndrome. Int J Cancer 124:2333-2340
-
(2009)
Int J Cancer
, vol.124
, pp. 2333-2340
-
-
Gylling, A.1
Ridanpaa, M.2
Vierimaa, O.3
Aittomaki, K.4
Avela, K.5
Kaariainen, H.6
Laivuori, H.7
Poyhonen, M.8
Sallinen, S.L.9
Wallgren-Pettersson, C.10
-
24
-
-
10744233937
-
Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
-
14970275 10.1093/jnci/djh034 1:CAS:528:DC%2BD2cXhsV2qtLk%3D
-
Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Ruschoff J, Fishel R, Lindor NM, Burgart LJ, Hamelin R et al (2004) Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96:261-268
-
(2004)
J Natl Cancer Inst
, vol.96
, 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
-
25
-
-
0033063711
-
New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC
-
10348829 10.1016/S0016-5085(99)70510-X 1:STN:280:DyaK1M3nvVamuw%3D%3D
-
Vasen HF, Watson P, Mecklin JP, Lynch HT (1999) New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology 116:1453-1456
-
(1999)
Gastroenterology
, vol.116
, pp. 1453-1456
-
-
Vasen, H.F.1
Watson, P.2
Mecklin, J.P.3
Lynch, H.T.4
-
26
-
-
0025848680
-
The International Collaborative Group on hereditary non-polyposis colorectal cancer (ICG-HNPCC)
-
2022152 10.1007/BF02053699 1:STN:280:DyaK3M3hsF2ksw%3D%3D
-
Vasen HF, Mecklin JP, Khan PM, Lynch HT (1991) The International Collaborative Group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 34:424-425
-
(1991)
Dis Colon Rectum
, vol.34
, pp. 424-425
-
-
Vasen, H.F.1
Mecklin, J.P.2
Khan, P.M.3
Lynch, H.T.4
-
27
-
-
84862935970
-
Germline promoter hypermethylation of tumor suppressor genes in gastric cancer
-
22228973 10.3748/wjg.v18.i1.70 1:CAS:528:DC%2BC38XhtFaktbg%3D
-
Wu PY, Zhang Z, Wang JM, Guo WW, Xiao N, He Q, Wang YP, Fan YM (2012) Germline promoter hypermethylation of tumor suppressor genes in gastric cancer. World J Gastroenterol 18:70-78
-
(2012)
World J Gastroenterol
, vol.18
, pp. 70-78
-
-
Wu, P.Y.1
Zhang, Z.2
Wang, J.M.3
Guo, W.W.4
Xiao, N.5
He, Q.6
Wang, Y.P.7
Fan, Y.M.8
-
28
-
-
0037332143
-
Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors
-
12547705 10.1016/S0002-9440(10)63841-2 1:CAS:528:DC%2BD3sXhtlKrurY%3D
-
Hendriks Y, Franken P, Dierssen JW, De Leeuw W, Wijnen J, Dreef E, Tops C, Breuning M, Brocker-Vriends A, Vasen H et al (2003) Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors. Am J Pathol 162:469-477
-
(2003)
Am J Pathol
, vol.162
, pp. 469-477
-
-
Hendriks, Y.1
Franken, P.2
Dierssen, J.W.3
De Leeuw, W.4
Wijnen, J.5
Dreef, E.6
Tops, C.7
Breuning, M.8
Brocker-Vriends, A.9
Vasen, H.10
-
29
-
-
0035760845
-
Genotype and phenotype in hereditary nonpolyposis colon cancer: A study of families with different vs. shared predisposing mutations
-
14574010 10.1023/A:1011564720772 1:CAS:528:DC%2BD3MXlsFGitbw%3D
-
Peltomaki P, Gao X, Mecklin JP (2001) Genotype and phenotype in hereditary nonpolyposis colon cancer: a study of families with different vs. shared predisposing mutations. Fam Cancer 1:9-15
-
(2001)
Fam Cancer
, vol.1
, pp. 9-15
-
-
Peltomaki, P.1
Gao, X.2
Mecklin, J.P.3
-
30
-
-
79961129383
-
Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome
-
21712435 10.1136/jmedgenet-2011-100050 1:CAS:528:DC%2BC3MXhtFKjt7jL
-
Morak M, Koehler U, Schackert HK, Steinke V, Royer-Pokora B, Schulmann K, Kloor M, Hochter W, Weingart J, Keiling C et al (2011) Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome. J Med Genet 48:513-519
-
(2011)
J Med Genet
, vol.48
, pp. 513-519
-
-
Morak, M.1
Koehler, U.2
Schackert, H.K.3
Steinke, V.4
Royer-Pokora, B.5
Schulmann, K.6
Kloor, M.7
Hochter, W.8
Weingart, J.9
Keiling, C.10
-
31
-
-
0029862873
-
Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis
-
8612988 10.1053/gast.1996.v110.pm8612988 1:STN:280:DyaK287otlWgtA%3D%3D
-
Vasen HF, Wijnen JT, Menko FH, Kleibeuker JH, Taal BG, Griffioen G, Nagengast FM, Meijers-Heijboer EH, Bertario L, Varesco L et al (1996) Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 110:1020-1027
-
(1996)
Gastroenterology
, vol.110
, pp. 1020-1027
-
-
Vasen, H.F.1
Wijnen, J.T.2
Menko, F.H.3
Kleibeuker, J.H.4
Taal, B.G.5
Griffioen, G.6
Nagengast, F.M.7
Meijers-Heijboer, E.H.8
Bertario, L.9
Varesco, L.10
-
32
-
-
0034997971
-
Microsatellite instability and the clinicopathological features of sporadic colorectal cancer
-
11358903 10.1136/gut.48.6.821 1:STN:280:DC%2BD3M3msl2isA%3D%3D
-
Ward R, Meagher A, Tomlinson I, O'Connor T, Norrie M, Wu R, Hawkins N (2001) Microsatellite instability and the clinicopathological features of sporadic colorectal cancer. Gut 48:821-829
-
(2001)
Gut
, vol.48
, pp. 821-829
-
-
Ward, R.1
Meagher, A.2
Tomlinson, I.3
O'Connor, T.4
Norrie, M.5
Wu, R.6
Hawkins, N.7
-
33
-
-
0032146118
-
Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability
-
9699680 1:CAS:528:DyaK1cXltFyis7Y%3D
-
Cunningham JM, Christensen ER, Tester DJ, Kim CY, Roche PC, Burgart LJ, Thibodeau SN (1998) Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res 58:3455-3460
-
(1998)
Cancer Res
, vol.58
, pp. 3455-3460
-
-
Cunningham, J.M.1
Christensen, E.R.2
Tester, D.J.3
Kim, C.Y.4
Roche, P.C.5
Burgart, L.J.6
Thibodeau, S.N.7
-
34
-
-
16544381802
-
Promoter hypermethylation frequency and BRAF mutations distinguish hereditary non-polyposis colon cancer from sporadic MSI-H colon cancer
-
15340260 10.1023/B:FAME.0000039861.30651.c8 1:CAS:528: DC%2BD2cXntFCntbg%3D
-
McGivern A, Wynter CV, Whitehall VL, Kambara T, Spring KJ, Walsh MD, Barker MA, Arnold S, Simms LA, Leggett BA et al (2004) Promoter hypermethylation frequency and BRAF mutations distinguish hereditary non-polyposis colon cancer from sporadic MSI-H colon cancer. Fam Cancer 3:101-107
-
(2004)
Fam Cancer
, vol.3
, pp. 101-107
-
-
McGivern, A.1
Wynter, C.V.2
Whitehall, V.L.3
Kambara, T.4
Spring, K.J.5
Walsh, M.D.6
Barker, M.A.7
Arnold, S.8
Simms, L.A.9
Leggett, B.A.10
-
35
-
-
33745541234
-
CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer
-
16804544 10.1038/ng1834 1:CAS:528:DC%2BD28XmtFyqsr8%3D
-
Weisenberger DJ, Siegmund KD, Campan M, Young J, Long TI, Faasse MA, Kang GH, Widschwendter M, Weener D, Buchanan D et al (2006) CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer. Nat Genet 38:787-793
-
(2006)
Nat Genet
, vol.38
, pp. 787-793
-
-
Weisenberger, D.J.1
Siegmund, K.D.2
Campan, M.3
Young, J.4
Long, T.I.5
Faasse, M.A.6
Kang, G.H.7
Widschwendter, M.8
Weener, D.9
Buchanan, D.10
-
36
-
-
4444311092
-
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing
-
15342696 10.1136/jmg.2004.020651 1:CAS:528:DC%2BD2cXovFWhsLY%3D
-
Domingo E, Laiho P, Ollikainen M, Pinto M, Wang L, French AJ, Westra J, Frebourg T, Espin E, Armengol M et al (2004) BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet 41:664-668
-
(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
-
37
-
-
34547405167
-
Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer
-
17453358 10.1007/s10689-007-9124-1 1:STN:280:DC%2BD2svjsVCnsQ%3D%3D
-
Loughrey MB, Waring PM, Tan A, Trivett M, Kovalenko S, Beshay V, Young MA, McArthur G, Boussioutas A, Dobrovic A (2007) Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer. Fam Cancer 6:301-310
-
(2007)
Fam Cancer
, vol.6
, pp. 301-310
-
-
Loughrey, M.B.1
Waring, P.M.2
Tan, A.3
Trivett, M.4
Kovalenko, S.5
Beshay, V.6
Young, M.A.7
McArthur, G.8
Boussioutas, A.9
Dobrovic, A.10
-
38
-
-
79952191728
-
Methylation of the 3p22 region encompassing MLH1 is representative of the CpG island methylator phenotype in colorectal cancer
-
21102416 10.1038/modpathol.2010.212 1:CAS:528:DC%2BC3MXisFartLs%3D
-
Wong JJ, Hawkins NJ, Ward RL, Hitchins MP (2011) Methylation of the 3p22 region encompassing MLH1 is representative of the CpG island methylator phenotype in colorectal cancer. Mod Pathol 24:396-411
-
(2011)
Mod Pathol
, vol.24
, pp. 396-411
-
-
Wong, J.J.1
Hawkins, N.J.2
Ward, R.L.3
Hitchins, M.P.4
-
39
-
-
0141973793
-
Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer
-
14512394 10.1200/JCO.2003.03.181 1:CAS:528:DC%2BD2cXptlCktbc%3D
-
Renkonen E, Zhang Y, Lohi H, Salovaara R, Abdel-Rahman WM, Nilbert M, Aittomaki K, Jarvinen HJ, Mecklin JP, Lindblom A et al (2003) Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer. J Clin Oncol 21:3629-3637
-
(2003)
J Clin Oncol
, vol.21
, pp. 3629-3637
-
-
Renkonen, E.1
Zhang, Y.2
Lohi, H.3
Salovaara, R.4
Abdel-Rahman, W.M.5
Nilbert, M.6
Aittomaki, K.7
Jarvinen, H.J.8
Mecklin, J.P.9
Lindblom, A.10
-
40
-
-
23244452266
-
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1
-
16083711 1:CAS:528:DC%2BD2MXpvVWmsLk%3D
-
Raevaara TE, Korhonen MK, Lohi H, Hampel H, Lynch E, Lonnqvist KE, Holinski-Feder E, Sutter C, McKinnon W, Duraisamy S et al (2005) Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology 129:537-549
-
(2005)
Gastroenterology
, vol.129
, pp. 537-549
-
-
Raevaara, T.E.1
Korhonen, M.K.2
Lohi, H.3
Hampel, H.4
Lynch, E.5
Lonnqvist, K.E.6
Holinski-Feder, E.7
Sutter, C.8
McKinnon, W.9
Duraisamy, S.10
-
41
-
-
84857688381
-
Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility
-
21953887 10.1002/humu.21617 1:CAS:528:DC%2BC3MXhs1aju7%2FO
-
Crepin M, Dieu MC, Lejeune S, Escande F, Boidin D, Porchet N, Morin G, Manouvrier S, Mathieu M, Buisine MP (2012) Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility. Hum Mutat 33:180-188
-
(2012)
Hum Mutat
, vol.33
, pp. 180-188
-
-
Crepin, M.1
Dieu, M.C.2
Lejeune, S.3
Escande, F.4
Boidin, D.5
Porchet, N.6
Morin, G.7
Manouvrier, S.8
Mathieu, M.9
Buisine, M.P.10
-
42
-
-
79960123568
-
Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort
-
21375527 10.1111/j.1399-0004.2011.01660.x 1:CAS:528:DC%2BC38Xptler
-
Hitchins MP, Owens SE, Kwok CT, Godsmark G, Algar UF, Ramesar RS (2011) Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort. Clin Genet 80:428-434
-
(2011)
Clin Genet
, vol.80
, pp. 428-434
-
-
Hitchins, M.P.1
Owens, S.E.2
Kwok, C.T.3
Godsmark, G.4
Algar, U.F.5
Ramesar, R.S.6
-
43
-
-
67650383819
-
Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome
-
19455606 10.1002/gcc.20678 1:CAS:528:DC%2BD1MXnvFGgs7k%3D
-
Niessen RC, Hofstra RM, Westers H, Ligtenberg MJ, Kooi K, Jager PO, de Groote ML, Dijkhuizen T, Olderode-Berends MJ, Hollema H et al (2009) Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome. Genes Chromosomes Cancer 48:737-744
-
(2009)
Genes Chromosomes Cancer
, vol.48
, pp. 737-744
-
-
Niessen, R.C.1
Hofstra, R.M.2
Westers, H.3
Ligtenberg, M.J.4
Kooi, K.5
Jager, P.O.6
De Groote, M.L.7
Dijkhuizen, T.8
Olderode-Berends, M.J.9
Hollema, H.10
-
44
-
-
77951844096
-
Early onset MSI-H colon cancer with MLH1 promoter methylation, is there a genetic predisposition?
-
20444249 10.1186/1471-2407-10-180
-
van Roon EH, van Puijenbroek M, Middeldorp A, van Eijk R, de Meijer EJ, Erasmus D, Wouters KA, van Engeland M, Oosting J, Hes FJ et al (2010) Early onset MSI-H colon cancer with MLH1 promoter methylation, is there a genetic predisposition? BMC Cancer 10:180
-
(2010)
BMC Cancer
, vol.10
, pp. 180
-
-
Van Roon, E.H.1
Van Puijenbroek, M.2
Middeldorp, A.3
Van Eijk, R.4
De Meijer, E.J.5
Erasmus, D.6
Wouters, K.A.7
Van Engeland, M.8
Oosting, J.9
Hes, F.J.10
-
45
-
-
0037065954
-
Methylation of hMLH1 promoter correlates with the gene silencing with a region-specific manner in colorectal cancer
-
11870540 10.1038/sj.bjc.6600148 1:CAS:528:DC%2BD38XislCmt74%3D
-
Deng G, Peng E, Gum J, Terdiman J, Sleisenger M, Kim YS (2002) Methylation of hMLH1 promoter correlates with the gene silencing with a region-specific manner in colorectal cancer. Br J Cancer 86:574-579
-
(2002)
Br J Cancer
, vol.86
, pp. 574-579
-
-
Deng, G.1
Peng, E.2
Gum, J.3
Terdiman, J.4
Sleisenger, M.5
Kim, Y.S.6
-
46
-
-
39049181307
-
Analysis of gene-specific DNA methylation patterns by pyrosequencing(r) technology
-
Tost J, Gut IG (2006) Analysis of gene-specific DNA methylation patterns by pyrosequencing(r) technology. Methods Mol Biol 373:89-102
-
(2006)
Methods Mol Biol
, vol.373
, pp. 89-102
-
-
Tost, J.1
Gut, I.G.2
-
47
-
-
0035710246
-
DNA methylation analysis by MethyLight technology
-
11846615 10.1006/meth.2001.1268 1:CAS:528:DC%2BD38XhtFeltL8%3D
-
Trinh BN, Long TI, Laird PW (2001) DNA methylation analysis by MethyLight technology. Methods 25:456-462
-
(2001)
Methods
, vol.25
, pp. 456-462
-
-
Trinh, B.N.1
Long, T.I.2
Laird, P.W.3
-
48
-
-
78650947025
-
Intensity-dependent constitutional MLH1 promoter methylation leads to early onset of colorectal cancer by affecting both alleles
-
21213371 10.1002/gcc.20842 1:CAS:528:DC%2BC3MXit12ntA%3D%3D
-
Auclair J, Vaissiere T, Desseigne F, Lasset C, Bonadona V, Giraud S, Saurin JC, Joly MO, Leroux D, Faivre L et al (2011) Intensity-dependent constitutional MLH1 promoter methylation leads to early onset of colorectal cancer by affecting both alleles. Genes Chromosomes Cancer 50:178-185
-
(2011)
Genes Chromosomes Cancer
, vol.50
, pp. 178-185
-
-
Auclair, J.1
Vaissiere, T.2
Desseigne, F.3
Lasset, C.4
Bonadona, V.5
Giraud, S.6
Saurin, J.C.7
Joly, M.O.8
Leroux, D.9
Faivre, L.10
-
49
-
-
24044464247
-
Methylation-specific MLPA (MS-MLPA): Simultaneous detection of CpG methylation and copy number changes of up to 40 sequences
-
16106041 10.1093/nar/gni127
-
Nygren AO, Ameziane N, Duarte HM, Vijzelaar RN, Waisfisz Q, Hess CJ, Schouten JP, Errami A (2005) Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences. Nucleic Acids Res 33:e128
-
(2005)
Nucleic Acids Res
, vol.33
, pp. 128
-
-
Nygren, A.O.1
Ameziane, N.2
Duarte, H.M.3
Vijzelaar, R.N.4
Waisfisz, Q.5
Hess, C.J.6
Schouten, J.P.7
Errami, A.8
-
50
-
-
33749122904
-
Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer
-
16951683 10.1038/ng1866 1:CAS:528:DC%2BD28XhtVSns7zL
-
Chan TL, Yuen ST, Kong CK, Chan YW, Chan AS, Ng WF, Tsui WY, Lo MW, Tam WY, Li VS et al (2006) Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer. Nat Genet 38:1178-1183
-
(2006)
Nat Genet
, vol.38
, pp. 1178-1183
-
-
Chan, T.L.1
Yuen, S.T.2
Kong, C.K.3
Chan, Y.W.4
Chan, A.S.5
Ng, W.F.6
Tsui, W.Y.7
Lo, M.W.8
Tam, W.Y.9
Li, V.S.10
-
51
-
-
58149144567
-
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1
-
19098912 10.1038/ng.283 1:CAS:528:DC%2BD1cXhsFajtbnN
-
Ligtenberg MJ, Kuiper RP, Chan TL, Goossens M, Hebeda KM, Voorendt M, Lee TY, Bodmer D, Hoenselaar E, Hendriks-Cornelissen SJ et al (2009) Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1. Nat Genet 41:112-117
-
(2009)
Nat Genet
, vol.41
, pp. 112-117
-
-
Ligtenberg, M.J.1
Kuiper, R.P.2
Chan, T.L.3
Goossens, M.4
Hebeda, K.M.5
Voorendt, M.6
Lee, T.Y.7
Bodmer, D.8
Hoenselaar, E.9
Hendriks-Cornelissen, S.J.10
-
52
-
-
78650692633
-
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: A cohort study
-
21145788 10.1016/S1470-2045(10)70265-5
-
Kempers MJ, Kuiper RP, Ockeloen CW, Chappuis PO, Hutter P, Rahner N, Schackert HK, Steinke V, Holinski-Feder E, Morak M et al (2011) Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol 12:49-55
-
(2011)
Lancet Oncol
, vol.12
, pp. 49-55
-
-
Kempers, M.J.1
Kuiper, R.P.2
Ockeloen, C.W.3
Chappuis, P.O.4
Hutter, P.5
Rahner, N.6
Schackert, H.K.7
Steinke, V.8
Holinski-Feder, E.9
Morak, M.10
-
53
-
-
80053909171
-
Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion
-
21769135 10.1038/ajg.2011.203 1:CAS:528:DC%2BC3MXht12jtbvF
-
Lynch HT, Riegert-Johnson DL, Snyder C, Lynch JF, Hagenkord J, Boland CR, Rhees J, Thibodeau SN, Boardman LA, Davies J et al (2011) Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion. Am J Gastroenterol 106:1829-1836
-
(2011)
Am J Gastroenterol
, vol.106
, pp. 1829-1836
-
-
Lynch, H.T.1
Riegert-Johnson, D.L.2
Snyder, C.3
Lynch, J.F.4
Hagenkord, J.5
Boland, C.R.6
Rhees, J.7
Thibodeau, S.N.8
Boardman, L.A.9
Davies, J.10
-
54
-
-
0042413490
-
Germline hMLH1 promoter mutation in a Newfoundland HNPCC kindred
-
12919137 10.1034/j.1399-0004.2003.t01-1-00110.x 1:STN:280: DC%2BD3svjslKntg%3D%3D
-
Green RC, Green AG, Simms M, Pater A, Robb JD, Green JS (2003) Germline hMLH1 promoter mutation in a Newfoundland HNPCC kindred. Clin Genet 64:220-227
-
(2003)
Clin Genet
, vol.64
, pp. 220-227
-
-
Green, R.C.1
Green, A.G.2
Simms, M.3
Pater, A.4
Robb, J.D.5
Green, J.S.6
-
55
-
-
0035923836
-
Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: Mutations or polymorphisms?
-
11726306 1:CAS:528:DC%2BD3MXptFGisr0%3D
-
Muller-Koch Y, Kopp R, Lohse P, Baretton G, Stoetzer A, Aust D, Daum J, Kerker B, Gross M, Dietmeier W et al (2001) Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms? Eur J Med Res 6:473-482
-
(2001)
Eur J Med Res
, vol.6
, pp. 473-482
-
-
Muller-Koch, Y.1
Kopp, R.2
Lohse, P.3
Baretton, G.4
Stoetzer, A.5
Aust, D.6
Daum, J.7
Kerker, B.8
Gross, M.9
Dietmeier, W.10
-
56
-
-
33751017687
-
Identification of germline MLH1 alterations in familial prostate cancer
-
16963262 10.1016/j.ejca.2006.04.024 1:CAS:528:DC%2BD28XhtFSrtb3I
-
Fredriksson H, Ikonen T, Autio V, Matikainen MP, Helin HJ, Tammela TL, Koivisto PA, Schleutker J (2006) Identification of germline MLH1 alterations in familial prostate cancer. Eur J Cancer 42:2802-2806
-
(2006)
Eur J Cancer
, vol.42
, pp. 2802-2806
-
-
Fredriksson, H.1
Ikonen, T.2
Autio, V.3
Matikainen, M.P.4
Helin, H.J.5
Tammela, T.L.6
Koivisto, P.A.7
Schleutker, J.8
-
57
-
-
22244443364
-
Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia
-
15996210 10.1111/j.1399-0004.2005.00469.x
-
Lee SC, Guo JY, Lim R, Soo R, Koay E, Salto-Tellez M, Leong A, Goh BC (2005) Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia. Clin Genet 68:137-145
-
(2005)
Clin Genet
, vol.68
, pp. 137-145
-
-
Lee, S.C.1
Guo, J.Y.2
Lim, R.3
Soo, R.4
Koay, E.5
Salto-Tellez, M.6
Leong, A.7
Goh, B.C.8
-
58
-
-
2142690241
-
Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families
-
14517962 10.1002/humu.9192 1:STN:280:DC%2BD3svlsFGqtA%3D%3D
-
Isidro G, Matos S, Goncalves V, Cavaleiro C, Antunes O, Marinho C, Soares J, Boavida MG (2003) Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families. Hum Mutat 22:419-420
-
(2003)
Hum Mutat
, vol.22
, pp. 419-420
-
-
Isidro, G.1
Matos, S.2
Goncalves, V.3
Cavaleiro, C.4
Antunes, O.5
Marinho, C.6
Soares, J.7
Boavida, M.G.8
-
59
-
-
0023279926
-
The inheritance of epigenetic defects
-
3310230 10.1126/science.3310230 1:CAS:528:DyaL2sXmtFalsr8%3D
-
Holliday R (1987) The inheritance of epigenetic defects. Science 238:163-170
-
(1987)
Science
, vol.238
, pp. 163-170
-
-
Holliday, R.1
-
60
-
-
72749085056
-
Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer
-
19564652 10.1136/jmg.2009.068122 1:CAS:528:DC%2BC3cXmt1Ghuw%3D%3D
-
Hitchins MP, Ward RL (2009) Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. J Med Genet 46:793-802
-
(2009)
J Med Genet
, vol.46
, pp. 793-802
-
-
Hitchins, M.P.1
Ward, R.L.2
|