-
1
-
-
13144252165
-
Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer
-
Viel A, Novella E, Genuardi M, Capozzi E, Fornasarig M, Pedroni M, Santarosa M, De Leon MP, Della Puppa L, Anti M, Boiocchi M. Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer. Int J Oncol 1998;13:565-9.
-
(1998)
Int J Oncol
, vol.13
, pp. 565-569
-
-
Viel, A.1
Novella, E.2
Genuardi, M.3
Capozzi, E.4
Fornasarig, M.5
Pedroni, M.6
Santarosa, M.7
De Leon, M.P.8
Della Puppa, L.9
Anti, M.10
Boiocchi, M.11
-
2
-
-
0032796919
-
Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer
-
Wang Q, Lasset C, Desseigne F, Saurin JC, Maugard C, Navarro C, Ruano E, Descos L, Trillet-Lenoir V, Bosset JF, Puisieux A. Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. Hum Genet 1999;105:79-85.
-
(1999)
Hum Genet
, vol.105
, pp. 79-85
-
-
Wang, Q.1
Lasset, C.2
Desseigne, F.3
Saurin, J.C.4
Maugard, C.5
Navarro, C.6
Ruano, E.7
Descos, L.8
Trillet-Lenoir, V.9
Bosset, J.F.10
Puisieux, A.11
-
3
-
-
33749066191
-
Prediction of germline mutations and cancer risk in the Lynch syndrome
-
Colon Cancer Family Registry
-
Chen S, Wang W, Lee S, Nafa K, Lee J, Romans K, Watson P, Gruber SB, Euhus D, Kinzler KW, Jass J, Gallinger S, Lindor NM, Casey G, Ellis N, Giardiello FM, Offit K, Parmigiani G; Colon Cancer Family Registry. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA 2006;296:1479-87.
-
(2006)
JAMA
, vol.296
, pp. 1479-1487
-
-
Chen, S.1
Wang, W.2
Lee, S.3
Nafa, K.4
Lee, J.5
Romans, K.6
Watson, P.7
Gruber, S.B.8
Euhus, D.9
Kinzler, K.W.10
Jass, J.11
Gallinger, S.12
Lindor, N.M.13
Casey, G.14
Ellis, N.15
Giardiello, F.M.16
Offit, K.17
Parmigiani, G.18
-
4
-
-
76349108011
-
Risks of Lynch syndrome cancers for MSH6 mutation carriers
-
Dutch Lynch Syndrome Study Group
-
Baglietto L, Lindor NM, Dowty JG, White DM, Wagner A, Gomez Garcia EB, Vriends AH, Cartwright NR, Barnetson RA, Farrington SM, Tenesa A, Hampel H, Buchanan D, Arnold S, Young J, Walsh MD, Jass J, Macrae F, Antill Y, Winship IM, Giles GG, Goldblatt J, Parry S, Suthers G, Leggett B, Butz M, Aronson M, Poynter JN, Baron JA, Le Marchand L, Haile R, Gallinger S, Hopper JL, Potter J, de la Chapelle A, Vasen HF, Dunlop MG, Thibodeau SN, Jenkins MA; Dutch Lynch Syndrome Study Group. Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst 2010;102:193-201.
-
(2010)
J Natl Cancer Inst
, vol.102
, pp. 193-201
-
-
Baglietto, L.1
Lindor, N.M.2
Dowty, J.G.3
White, D.M.4
Wagner, A.5
Gomez Garcia, E.B.6
Vriends, A.H.7
Cartwright, N.R.8
Barnetson, R.A.9
Farrington, S.M.10
Tenesa, A.11
Hampel, H.12
Buchanan, D.13
Arnold, S.14
Young, J.15
Walsh, M.D.16
Jass, J.17
Macrae, F.18
Antill, Y.19
Winship, I.M.20
Giles, G.G.21
Goldblatt, J.22
Parry, S.23
Suthers, G.24
Leggett, B.25
Butz, M.26
Aronson, M.27
Poynter, J.N.28
Baron, J.A.29
Le Marchand, L.30
Haile, R.31
Gallinger, S.32
Hopper, J.L.33
Potter, J.34
de la Chapelle, A.35
Vasen, H.F.36
Dunlop, M.G.37
Thibodeau, S.N.38
Jenkins, M.A.39
more..
-
5
-
-
48549099663
-
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
-
Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, Lindblom A, Lagerstedt K, Thibodeau SN, Lindor NM, Young J, Winship I, Dowty JG, White DM, Hopper JL, Baglietto L, Jenkins MA, de la Chapelle A. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 2008;135:419-28.
-
(2008)
Gastroenterology
, vol.135
, pp. 419-428
-
-
Senter, L.1
Clendenning, M.2
Sotamaa, K.3
Hampel, H.4
Green, J.5
Potter, J.D.6
Lindblom, A.7
Lagerstedt, K.8
Thibodeau, S.N.9
Lindor, N.M.10
Young, J.11
Winship, I.12
Dowty, J.G.13
White, D.M.14
Hopper, J.L.15
Baglietto, L.16
Jenkins, M.A.17
de la Chapelle, A.18
-
6
-
-
84860555035
-
Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer
-
Published Online First: 25 August, doi:10.1136/gutjnl-2011-300041
-
Pérez-Carbonell L, Ruiz-Ponte C, Guarinos C, Alenda C, Payá A, Brea A, Egoavil CM, Castillejo A, Barberá VM, Bessa X, Xicola RM, Rodriguez-Soler M, Sánchez-Fortún C, Acame N, Castellvi-Bel S, Pinol V, Balaguer F, Bujanda L, De-Castro ML, Llor X, Andreu M, Carracedo A, Soto JL, Castells A, Jover R. Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer. Gut. Published Online First: 25 August 2011. doi:10.1136/gutjnl-2011-300041
-
(2011)
Gut
-
-
Pérez-Carbonell, L.1
Ruiz-Ponte, C.2
Guarinos, C.3
Alenda, C.4
Payá, A.5
Brea, A.6
Egoavil, C.M.7
Castillejo, A.8
Barberá, V.M.9
Bessa, X.10
Xicola, R.M.11
Rodriguez-Soler, M.12
Sánchez-Fortún, C.13
Acame, N.14
Castellvi-Bel, S.15
Pinol, V.16
Balaguer, F.17
Bujanda, L.18
De-Castro, M.L.19
Llor, X.20
Andreu, M.21
Carracedo, A.22
Soto, J.L.23
Castells, A.24
Jover, R.25
more..
-
7
-
-
10744233937
-
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
-
Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Rüschoff J, Fishel R, Lindor NM, Burgart LJ, Hamelin R, Hamilton SR, Hiatt RA, Jass J, Lindblom A, Lynch HT, Peltomaki P, Ramsey SD, Rodriguez-Bigas MA, Vasen HF, Hawk ET, Barrett JC, Freedman AN, Srivastava S. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004;96:261-8.
-
(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
Rüschoff, 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.19
Hawk, E.T.20
Barrett, J.C.21
Freedman, A.N.22
Srivastava, S.23
more..
-
8
-
-
79954605264
-
Quality assessment and correlation of microsatellite instability and immunohistochemical markers among population- and clinic-based colorectal tumors results from the Colon Cancer Family Registry
-
Cicek MS, Lindor NM, Gallinger S, Bapat B, Hopper JL, Jenkins MA, Young J, Buchanan D, Walsh MD, Le Marchand L, Burnett T, Newcomb PA, Grady WM, Haile RW, Casey G, Plummer SJ, Krumroy LA, Baron JA, Thibodeau SN. Quality assessment and correlation of microsatellite instability and immunohistochemical markers among population- and clinic-based colorectal tumors results from the Colon Cancer Family Registry. J Mol Diagn 2011;13:271-81.
-
(2011)
J Mol Diagn
, vol.13
, pp. 271-281
-
-
Cicek, M.S.1
Lindor, N.M.2
Gallinger, S.3
Bapat, B.4
Hopper, J.L.5
Jenkins, M.A.6
Young, J.7
Buchanan, D.8
Walsh, M.D.9
Le Marchand, L.10
Burnett, T.11
Newcomb, P.A.12
Grady, W.M.13
Haile, R.W.14
Casey, G.15
Plummer, S.J.16
Krumroy, L.A.17
Baron, J.A.18
Thibodeau, S.N.19
-
9
-
-
0037083484
-
Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors
-
Lindor NM, Burgart LJ, Leontovich O, Goldberg RM, Cunningham JM, Sargent DJ, Walsh-Vockley C, Petersen GM, Walsh MD, Leggett BA, Young JP, Barker MA, Jass JR, Hopper J, Gallinger S, Bapat B, Redston M, Thibodeau SN. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol 2002;20:1043-8.
-
(2002)
J Clin Oncol
, vol.20
, pp. 1043-1048
-
-
Lindor, N.M.1
Burgart, L.J.2
Leontovich, O.3
Goldberg, R.M.4
Cunningham, J.M.5
Sargent, D.J.6
Walsh-Vockley, C.7
Petersen, G.M.8
Walsh, M.D.9
Leggett, B.A.10
Young, J.P.11
Barker, M.A.12
Jass, J.R.13
Hopper, J.14
Gallinger, S.15
Bapat, B.16
Redston, M.17
Thibodeau, S.N.18
-
10
-
-
0025312728
-
A genetic model for colorectal tumorigenesis
-
Fearon ER, Vogelstein B. A genetic model for colorectal tumorigenesis. Cell 1990;61:759-67.
-
(1990)
Cell
, vol.61
, pp. 759-767
-
-
Fearon, E.R.1
Vogelstein, B.2
-
12
-
-
33745541234
-
CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer
-
Weisenberger DJ, Siegmund KD, Campan M, Young J, Long TI, Faasse MA, Kang GH, Widschwendter M, Weener D, Buchanan D, Koh H, Simms L, Barker M, Leggett B, Levine J, Kim M, French AJ, Thibodeau SN, Jass J, Haile R, Laird PW. CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer. Nat Genet 2006;38:787-93.
-
(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
Koh, H.11
Simms, L.12
Barker, M.13
Leggett, B.14
Levine, J.15
Kim, M.16
French, A.J.17
Thibodeau, S.N.18
Jass, J.19
Haile, R.20
Laird, P.W.21
more..
-
13
-
-
77955053997
-
Selection of patients with germline MLH1 mutated Lynch syndrome by determination of MLH1 methylation and BRAF mutation
-
Bouzourene H, Hutter P, Losi L, Martin P, Benhattar J. Selection of patients with germline MLH1 mutated Lynch syndrome by determination of MLH1 methylation and BRAF mutation. Fam Cancer 2010;9:167-72.
-
(2010)
Fam Cancer
, vol.9
, pp. 167-172
-
-
Bouzourene, H.1
Hutter, P.2
Losi, L.3
Martin, P.4
Benhattar, J.5
-
14
-
-
43649096338
-
Strategy in clinical practice for classification of unselected colorectal tumours based on mismatch repair deficiency
-
Jensen LH, Lindebjerg J, Byriel L, Kolvraa S, Crüger DG. Strategy in clinical practice for classification of unselected colorectal tumours based on mismatch repair deficiency. Colorectal Dis 2008;10:490-7.
-
(2008)
Colorectal Dis
, vol.10
, pp. 490-497
-
-
Jensen, L.H.1
Lindebjerg, J.2
Byriel, L.3
Kolvraa, S.4
Crüger, D.G.5
-
15
-
-
34547405167
-
Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer
-
Loughrey MB, Waring PM, Tan A, Trivett M, Kovalenko S, Beshay V, Young MA, McArthur G, Boussioutas A, Dobrovic A. Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer. Fam Cancer 2007;6:301-10.
-
(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
-
16
-
-
4544310802
-
Mutations associated with HNPCC predisposition-Update of ICG-HNPCC/INSiGHT mutation database
-
Peltomäki P, Vasen H. Mutations associated with HNPCC predisposition-Update of ICG-HNPCC/INSiGHT mutation database. Dis Markers 2004;20:269-76.
-
(2004)
Dis Markers
, vol.20
, pp. 269-276
-
-
Peltomäki, P.1
Vasen, H.2
-
17
-
-
34447264031
-
A new variant database for mismatch repair genes associated with Lynch syndrome
-
Woods MO, Williams P, Careen A, Edwards L, Bartlett S, McLaughlin JR, Younghusband HB. A new variant database for mismatch repair genes associated with Lynch syndrome. Hum Mutat 2007;28:669-73.
-
(2007)
Hum Mutat
, vol.28
, pp. 669-673
-
-
Woods, M.O.1
Williams, P.2
Careen, A.3
Edwards, L.4
Bartlett, S.5
McLaughlin, J.R.6
Younghusband, H.B.7
-
18
-
-
77953614990
-
Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models
-
Spurdle AB. Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models. Curr Opin Genet Dev 2010;20:315-23.
-
(2010)
Curr Opin Genet Dev
, vol.20
, pp. 315-323
-
-
Spurdle, A.B.1
-
19
-
-
66749164756
-
Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics
-
Arnold S, Buchanan DD, Barker M, Jaskowski L, Walsh MD, Birney G, Woods MO, Hopper JL, Jenkins MA, Brown MA, Tavtigian SV, Goldgar DE, Young JP, Spurdle AB. Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. Hum Mutat 2009;30:757-70.
-
(2009)
Hum Mutat
, vol.30
, pp. 757-770
-
-
Arnold, S.1
Buchanan, D.D.2
Barker, M.3
Jaskowski, L.4
Walsh, M.D.5
Birney, G.6
Woods, M.O.7
Hopper, J.L.8
Jenkins, M.A.9
Brown, M.A.10
Tavtigian, S.V.11
Goldgar, D.E.12
Young, J.P.13
Spurdle, A.B.14
-
20
-
-
0033135049
-
Methylation of CpG in a small region of the hMLH1 promoter invariably correlates with the absence of gene expression
-
Deng G, Chen A, Hong J, Chae HS, Kim YS. Methylation of CpG in a small region of the hMLH1 promoter invariably correlates with the absence of gene expression. Cancer Res 1999;59:2029-33.
-
(1999)
Cancer Res
, vol.59
, pp. 2029-2033
-
-
Deng, G.1
Chen, A.2
Hong, J.3
Chae, H.S.4
Kim, Y.S.5
-
21
-
-
33847794097
-
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics
-
Lagerstedt Robinson K, Liu T, Vandrovcova J, Halvarsson B, Clendenning M, Frebourg T, Papadopoulos N, Kinzler KW, Vogelstein B, Peltomaki P, Kolodner RD, Nilbert M, Lindblom A. Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. J Natl Cancer Inst 2007;99:291-9.
-
(2007)
J Natl Cancer Inst
, vol.99
, 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
-
22
-
-
0141593677
-
BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair
-
Wang L, Cunningham JM, Winters JL, Guenther JC, French AJ, Boardman LA, Burgart LJ, McDonnell SK, Schaid DJ, Thibodeau SN. BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair. Cancer Res 2003;63:5209-12.
-
(2003)
Cancer Res
, vol.63
, pp. 5209-5212
-
-
Wang, L.1
Cunningham, J.M.2
Winters, J.L.3
Guenther, J.C.4
French, A.J.5
Boardman, L.A.6
Burgart, L.J.7
McDonnell, S.K.8
Schaid, D.J.9
Thibodeau, S.N.10
-
23
-
-
16544381802
-
Promoter hypermethylation frequency and BRAF mutations distinguish hereditary non-polyposis colon cancer from sporadic MSI-H colon cancer
-
McGivern A, Wynter CV, Whitehall VL, Kambara T, Spring KJ, Walsh MD, Barker MA, Arnold S, Simms LA, Leggett BA, Young J, Jass JR. Promoter hypermethylation frequency and BRAF mutations distinguish hereditary non-polyposis colon cancer from sporadic MSI-H colon cancer. Fam Cancer 2004;3:101-7.
-
(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
Young, J.11
Jass, J.R.12
-
24
-
-
77953292142
-
Molecular biology from bench-to-bedside-which colorectal cancer patients should be referred for genetic counselling and risk assessment
-
Jensen LH, Dysager L, Lindebjerg J, Kølvrå S, Byriel L, Crüger DG. Molecular biology from bench-to-bedside-which colorectal cancer patients should be referred for genetic counselling and risk assessment. Eur J Cancer 2010;46:1823-8.
-
(2010)
Eur J Cancer
, vol.46
, pp. 1823-1828
-
-
Jensen, L.H.1
Dysager, L.2
Lindebjerg, J.3
Kølvrå, S.4
Byriel, L.5
Crüger, D.G.6
-
25
-
-
76349100948
-
Performance of clinical guidelines compared with molecular tumour screening methods in identifying possible Lynch syndrome among colorectal cancer patients: a Norwegian populationbased study
-
Tranø G, Sjursen W, Wasmuth HH, Hofsli E, Vatten LJ. Performance of clinical guidelines compared with molecular tumour screening methods in identifying possible Lynch syndrome among colorectal cancer patients: a Norwegian populationbased study. Br J Cancer 2010;102:482-8.
-
(2010)
Br J Cancer
, vol.102
, pp. 482-488
-
-
Tranø, G.1
Sjursen, W.2
Wasmuth, H.H.3
Hofsli, E.4
Vatten, L.J.5
-
26
-
-
58749101712
-
Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test
-
Schofield L, Watson N, Grieu F, Li WQ, Zeps N, Harvey J, Stewart C, Abdo M, Goldblatt J, Iacopetta B. Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test. Int J Cancer 2009;124:1097-102.
-
(2009)
Int J Cancer
, vol.124
, pp. 1097-1102
-
-
Schofield, L.1
Watson, N.2
Grieu, F.3
Li, W.Q.4
Zeps, N.5
Harvey, J.6
Stewart, C.7
Abdo, M.8
Goldblatt, J.9
Iacopetta, B.10
-
27
-
-
50249188284
-
Redundant DNA methylation in colorectal cancers of Lynch-syndrome patients
-
Alemayehu A, Sebova K, Fridrichova I. Redundant DNA methylation in colorectal cancers of Lynch-syndrome patients. Genes Chromosomes Cancer 2008;47:906-14.
-
(2008)
Genes Chromosomes Cancer
, vol.47
, pp. 906-914
-
-
Alemayehu, A.1
Sebova, K.2
Fridrichova, I.3
-
28
-
-
34250639863
-
Distinction of hereditary nonpolyposis colorectal cancer and sporadic microsatellite-unstable colorectal cancer through quantification of MLH1 methylation by real-time PCR
-
Bettstetter M, Dechant S, Ruemmele P, Grabowski M, Keller G, Holinski-Feder E, Hartmann A, Hofstaedter F, Dietmaier W. Distinction of hereditary nonpolyposis colorectal cancer and sporadic microsatellite-unstable colorectal cancer through quantification of MLH1 methylation by real-time PCR. Clin Cancer Res 2007;13:3221-8.
-
(2007)
Clin Cancer Res
, vol.13
, pp. 3221-3228
-
-
Bettstetter, M.1
Dechant, S.2
Ruemmele, P.3
Grabowski, M.4
Keller, G.5
Holinski-Feder, E.6
Hartmann, A.7
Hofstaedter, F.8
Dietmaier, W.9
-
29
-
-
38049046496
-
Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome
-
Rahner N, Friedrichs N, Steinke V, Aretz S, Friedl W, Buettner R, Mangold E, Propping P, Walldorf C. 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
Aretz, S.4
Friedl, W.5
Buettner, R.6
Mangold, E.7
Propping, P.8
Walldorf, C.9
-
30
-
-
64249108224
-
Large genomic rearrangements and germline epimutations in Lynch syndrome
-
Gylling A, Ridanpää M, Vierimaa O, Aittomäki K, Avela K, Kääriäinen H, Laivuori H, Pöyhönen M, Sallinen SL, Wallgren-Pettersson C, Järvinen HJ, Mecklin JP, Peltomäki P. Large genomic rearrangements and germline epimutations in Lynch syndrome. Int J Cancer 2009;124:2333-40.
-
(2009)
Int J Cancer
, vol.124
, pp. 2333-2340
-
-
Gylling, A.1
Ridanpää, M.2
Vierimaa, O.3
Aittomäki, K.4
Avela, K.5
Kääriäinen, H.6
Laivuori, H.7
Pöyhönen, M.8
Sallinen, S.L.9
Wallgren-Pettersson, C.10
Järvinen, H.J.11
Mecklin, J.P.12
Peltomäki, P.13
-
31
-
-
45749135888
-
Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC
-
Morak M, Schackert HK, Rahner N, Betz B, Ebert M, Walldorf C, Royer-Pokora B, Schulmann K, von Knebel-Doeberitz M, Dietmaier W, Keller G, Kerker B, Leitner G, Holinski-Feder E. 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;16:804-11.
-
(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
Keller, G.11
Kerker, B.12
Leitner, G.13
Holinski-Feder, E.14
-
32
-
-
33847259206
-
MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer
-
Valle L, Carbonell P, Fernandez V, Dotor AM, Sanz M, Benitez J, Urioste M. MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer. Clin Genet 2007;71:232-7.
-
(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
-
33
-
-
67650000219
-
Efficient molecular screening of Lynch syndrome by specific 3′ promoter methylation of the MLH1 or BRAF mutation in colorectal cancer with high-frequency microsatellite instability
-
Nakagawa H, Nagasaka T, Cullings HM, Notohara K, Hoshijima N, Young J, Lynch HT, Tanaka N, Matsubara N. Efficient molecular screening of Lynch syndrome by specific 3′ promoter methylation of the MLH1 or BRAF mutation in colorectal cancer with high-frequency microsatellite instability. Oncol Rep 2009;21:1577-83.
-
(2009)
Oncol Rep
, vol.21
, pp. 1577-1583
-
-
Nakagawa, H.1
Nagasaka, T.2
Cullings, H.M.3
Notohara, K.4
Hoshijima, N.5
Young, J.6
Lynch, H.T.7
Tanaka, N.8
Matsubara, N.9
-
34
-
-
65649090603
-
Utility of p16 immunohistochemistry for the identification of Lynch syndrome
-
Payá A, Alenda C, Pérez-Carbonell L, Rojas E, Soto JL, Guillén C, Castillejo A, Barberá VM, Carrato A, Castells A, Llor X, Andreu M, Koh J, Enders GH, Benlloch S, Jover R. Utility of p16 immunohistochemistry for the identification of Lynch syndrome. Clin Cancer Res 2009;15:3156-62.
-
(2009)
Clin Cancer Res
, vol.15
, pp. 3156-3162
-
-
Payá, A.1
Alenda, C.2
Pérez-Carbonell, L.3
Rojas, E.4
Soto, J.L.5
Guillén, C.6
Castillejo, A.7
Barberá, V.M.8
Carrato, A.9
Castells, A.10
Llor, X.11
Andreu, M.12
Koh, J.13
Enders, G.H.14
Benlloch, S.15
Jover, R.16
-
35
-
-
77954367535
-
Methylation analysis of MLH1 improves the selection of patients for genetic testing in Lynch syndrome
-
Pérez-Carbonell L, Alenda C, Payá A, Castillejo A, Barberá VM, Guillén C, Rojas E, Acame N, Gutiérrez-Aviñó FJ, Castells A, Llor X, Andreu M, Soto JL, Jover R. Methylation analysis of MLH1 improves the selection of patients for genetic testing in Lynch syndrome. J Mol Diagn 2010;12:498-504.
-
(2010)
J Mol Diagn
, vol.12
, pp. 498-504
-
-
Pérez-Carbonell, L.1
Alenda, C.2
Payá, A.3
Castillejo, A.4
Barberá, V.M.5
Guillén, C.6
Rojas, E.7
Acame, N.8
Gutiérrez-Aviñó, F.J.9
Castells, A.10
Llor, X.11
Andreu, M.12
Soto, J.L.13
Jover, R.14
-
36
-
-
26444564721
-
High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genes
-
Woods MO, Hyde AJ, Curtis FK, Stuckless S, Green JS, Pollett AF, Robb JD, Green RC, Croitoru ME, Careen A, Chaulk JA, Jegathesan J, McLaughlin JR, Gallinger SS, Younghusband HB, Bapat BV, Parfrey PS. High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genes. Clin Cancer Res 2005;11:6853-61.
-
(2005)
Clin Cancer Res
, vol.11
, pp. 6853-6861
-
-
Woods, M.O.1
Hyde, A.J.2
Curtis, F.K.3
Stuckless, S.4
Green, J.S.5
Pollett, A.F.6
Robb, J.D.7
Green, R.C.8
Croitoru, M.E.9
Careen, A.10
Chaulk, J.A.11
Jegathesan, J.12
McLaughlin, J.R.13
Gallinger, S.S.14
Younghusband, H.B.15
Bapat, B.V.16
Parfrey, P.S.17
-
37
-
-
4444311092
-
BRAF screening as a lowcost 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, Hofstra RM, Seruca R, Lindblom A, Peltomäki P, Thibodeau SN, Aaltonen LA, Schwartz S Jr. BRAF screening as a lowcost 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
Hofstra, R.M.13
Seruca, R.14
Lindblom, A.15
Peltomäki, P.16
Thibodeau, S.N.17
Aaltonen, L.A.18
Schwartz Jr., S.19
-
38
-
-
38749113701
-
A prospective, multicenter, population-based study of BRAF mutational analysis for Lynch syndrome screening
-
Gastrointestinal Oncology Group of Spanish Gastroenterological Association
-
Bessa X, Balleste B, Andreu M, Castells A, Bellosillo B, Balaguer F, Castellvi-Bel S, Paya A, Jover R, Alenda C, Tito L, Martinez-Villacampa M, Vilella A, Xicola RM, Pons E, Llor X; Gastrointestinal Oncology Group of Spanish Gastroenterological Association. A prospective, multicenter, population-based study of BRAF mutational analysis for Lynch syndrome screening. Clin Gastroenterol Hepatol 2008;6:206-14.
-
(2008)
Clin Gastroenterol Hepatol
, vol.6
, pp. 206-214
-
-
Bessa, X.1
Balleste, B.2
Andreu, M.3
Castells, A.4
Bellosillo, B.5
Balaguer, F.6
Castellvi-Bel, S.7
Paya, A.8
Jover, R.9
Alenda, C.10
Tito, L.11
Martinez-Villacampa, M.12
Vilella, A.13
Xicola, R.M.14
Pons, E.15
Llor, X.16
-
39
-
-
55849140517
-
Molecular characterization of MSI-H colorectal cancer by MLHI promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening
-
Colon Cancer Family Registry Investigators
-
Poynter JN, Siegmund KD, Weisenberger DJ, Long TI, Thibodeau SN, Lindor N, Young J, Jenkins MA, Hopper JL, Baron JA, Buchanan D, Casey G, Levine AJ, Le Marchand L, Gallinger S, Bapat B, Potter JD, Newcomb PA, Haile RW, Laird PW; Colon Cancer Family Registry Investigators. Molecular characterization of MSI-H colorectal cancer by MLHI promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening. Cancer Epidemiol Biomarkers Prev 2008;17:3208-15.
-
(2008)
Cancer Epidemiol Biomarkers Prev
, vol.17
, pp. 3208-3215
-
-
Poynter, J.N.1
Siegmund, K.D.2
Weisenberger, D.J.3
Long, T.I.4
Thibodeau, S.N.5
Lindor, N.6
Young, J.7
Jenkins, M.A.8
Hopper, J.L.9
Baron, J.A.10
Buchanan, D.11
Casey, G.12
Levine, A.J.13
Le Marchand, L.14
Gallinger, S.15
Bapat, B.16
Potter, J.D.17
Newcomb, P.A.18
Haile, R.W.19
Laird, P.W.20
more..
-
40
-
-
70449530780
-
Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysis
-
Walsh MD, Buchanan DD, Walters R, Roberts A, Arnold S, McKeone D, Clendenning M, Ruszkiewicz AR, Jenkins MA, Hopper JL, Goldblatt J, George J, Suthers GK, Phillips K, Young GP, Macrae F, Drini M, Woods MO, Parry S, Jass JR, Young JP. Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysis. Fam Cancer 2009;8:313-23.
-
(2009)
Fam Cancer
, vol.8
, pp. 313-323
-
-
Walsh, M.D.1
Buchanan, D.D.2
Walters, R.3
Roberts, A.4
Arnold, S.5
McKeone, D.6
Clendenning, M.7
Ruszkiewicz, A.R.8
Jenkins, M.A.9
Hopper, J.L.10
Goldblatt, J.11
George, J.12
Suthers, G.K.13
Phillips, K.14
Young, G.P.15
Macrae, F.16
Drini, M.17
Woods, M.O.18
Parry, S.19
Jass, J.R.20
Young, J.P.21
more..
-
41
-
-
84857688381
-
Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility
-
Crépin M, Dieu MC, Lejeune S, Escande F, Boidin D, Porchet N, Morin G, Manouvrier S, Mathieu M, Buisine MP. Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility. Hum Mutat 2012;33:180-8.
-
(2012)
Hum Mutat
, vol.33
, pp. 180-188
-
-
Crépin, 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
-
-
33947218541
-
Evidence for the role of aberrant DNA methylation in the pathogenesis of Lynch syndrome adenomas
-
Kaz A, Kim YH, Dzieciatkowski S, Lynch H, Watson P, Kay Washington M, Lin L, Grady WM. Evidence for the role of aberrant DNA methylation in the pathogenesis of Lynch syndrome adenomas. Int J Cancer 2007;120:1922-9.
-
(2007)
Int J Cancer
, vol.120
, pp. 1922-1929
-
-
Kaz, A.1
Kim, Y.H.2
Dzieciatkowski, S.3
Lynch, H.4
Watson, P.5
Kay Washington, M.6
Lin, L.7
Grady, W.M.8
-
43
-
-
80051578149
-
Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5′UTR
-
Hitchins MP, Rapkins RW, Kwok CT, Srivastava S, Wong JJ, Khachigian LM, Polly P, Goldblatt J, Ward RL. 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 2011;20:200-13.
-
(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
-
44
-
-
72749085056
-
Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer
-
Hitchins MP, Ward RL. Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. J Med Genet 2009;46:793-802.
-
(2009)
J Med Genet
, vol.46
, pp. 793-802
-
-
Hitchins, M.P.1
Ward, R.L.2
-
45
-
-
79958144950
-
Mutation deep within an intron of MSH2 causes Lynch syndrome
-
Clendenning M, Buchanan DD, Walsh MD, Nagler B, Rosty C, Thompson B, Spurdle AB, Hopper JL, Jenkins MA, Young JP. Mutation deep within an intron of MSH2 causes Lynch syndrome. Fam Cancer 2011;10:297-301.
-
(2011)
Fam Cancer
, vol.10
, pp. 297-301
-
-
Clendenning, M.1
Buchanan, D.D.2
Walsh, M.D.3
Nagler, B.4
Rosty, C.5
Thompson, B.6
Spurdle, A.B.7
Hopper, J.L.8
Jenkins, M.A.9
Young, J.P.10
-
46
-
-
80053909171
-
Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion
-
Lynch HT, Riegert-Johnson DL, Snyder C, Lynch JF, Hagenkord J, Boland CR, Rhees J, Thibodeau SN, Boardman LA, Davies J, Kuiper RP, Hoogerbrugge N, Ligtenberg MJ. Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion. Am J Gastroenterol 2011;106:1829-36.
-
(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
Kuiper, R.P.11
Hoogerbrugge, N.12
Ligtenberg, M.J.13
-
47
-
-
55549137442
-
Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
-
IARC Unclassified Genetic Variants Working Group
-
Goldgar DE, Easton DF, Byrnes GB, Spurdle AB, Iversen ES, Greenblatt MS; IARC Unclassified Genetic Variants Working Group. Genetic evidence and integration of various data sources for classifying uncertain variants into a single model. Hum Mutat 2008;29:1265-72.
-
(2008)
Hum Mutat
, vol.29
, pp. 1265-1272
-
-
Goldgar, D.E.1
Easton, D.F.2
Byrnes, G.B.3
Spurdle, A.B.4
Iversen, E.S.5
Greenblatt, M.S.6
-
48
-
-
4544336084
-
Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2
-
Breast Cancer Information Core (BIC) Steering Committee
-
Goldgar DE, Easton DF, Deffenbaugh AM, Monteiro AN, Tavtigian SV, Couch FJ; Breast Cancer Information Core (BIC) Steering Committee. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet 2004;75:535-44.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 535-544
-
-
Goldgar, D.E.1
Easton, D.F.2
Deffenbaugh, A.M.3
Monteiro, A.N.4
Tavtigian, S.V.5
Couch, F.J.6
-
49
-
-
55549101314
-
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
-
IARC Unclassified Genetic Variants Working Group
-
Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV; IARC Unclassified Genetic Variants Working Group. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 2008;29:1282-91.
-
(2008)
Hum Mutat
, vol.29
, pp. 1282-1291
-
-
Plon, S.E.1
Eccles, D.M.2
Easton, D.3
Foulkes, W.D.4
Genuardi, M.5
Greenblatt, M.S.6
Hogervorst, F.B.7
Hoogerbrugge, N.8
Spurdle, A.B.9
Tavtigian, S.V.10
-
50
-
-
80053916307
-
Performance of Lynch syndrome predictive models in a multi-center US referral population
-
Khan O, Blanco A, Conrad P, Gulden C, Moss TZ, Olopade OI, Kupfer SS, Terdiman J. Performance of Lynch syndrome predictive models in a multi-center US referral population. Am J Gastroenterol 2011;106:1822-7.
-
(2011)
Am J Gastroenterol
, vol.106
, pp. 1822-1827
-
-
Khan, O.1
Blanco, A.2
Conrad, P.3
Gulden, C.4
Moss, T.Z.5
Olopade, O.I.6
Kupfer, S.S.7
Terdiman, J.8
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