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Items: 1 to 20 of 112

1.

EPCAM germline and somatic rearrangements in Lynch syndrome: identification of a novel 3'EPCAM deletion.

Spaepen M, Neven E, Sagaert X, De Hertogh G, Beert E, Wimmer K, Matthijs G, Legius E, Brems H.

Genes Chromosomes Cancer. 2013 Sep;52(9):845-54. doi: 10.1002/gcc.22080. Epub 2013 Jun 26.

PMID:
23801599
2.

Frequency of rearrangements in Lynch syndrome cases associated with MSH2: characterization of a new deletion involving both EPCAM and the 5' part of MSH2.

Pérez-Cabornero L, Infante Sanz M, Velasco Sampedro E, Lastra Aras E, Acedo Becares A, Miner Pino C, Durán Domínguez M.

Cancer Prev Res (Phila). 2011 Oct;4(10):1556-62. doi: 10.1158/1940-6207.CAPR-11-0080. Epub 2011 Jul 26.

3.

Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.

Niessen RC, Hofstra RM, Westers H, Ligtenberg MJ, Kooi K, Jager PO, de Groote ML, Dijkhuizen T, Olderode-Berends MJ, Hollema H, Kleibeuker JH, Sijmons RH.

Genes Chromosomes Cancer. 2009 Aug;48(8):737-44. doi: 10.1002/gcc.20678.

PMID:
19455606
4.

Identification of a Japanese Lynch syndrome patient with large deletion in the 3' region of the EPCAM gene.

Eguchi H, Kumamoto K, Suzuki O, Kohda M, Tada Y, Okazaki Y, Ishida H.

Jpn J Clin Oncol. 2016 Feb;46(2):178-84. doi: 10.1093/jjco/hyv172. Epub 2015 Nov 27.

PMID:
26613680
5.

EPCAM germ line deletions as causes of Lynch syndrome in Spanish patients.

Guarinos C, Castillejo A, Barberá VM, Pérez-Carbonell L, Sánchez-Heras AB, Segura A, Guillén-Ponce C, Martínez-Cantó A, Castillejo MI, Egoavil CM, Jover R, Payá A, Alenda C, Soto JL.

J Mol Diagn. 2010 Nov;12(6):765-70. doi: 10.2353/jmoldx.2010.100039. Epub 2010 Sep 23.

6.

Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.

Haraldsdottir S, Hampel H, Tomsic J, Frankel WL, Pearlman R, de la Chapelle A, Pritchard CC.

Gastroenterology. 2014 Dec;147(6):1308-1316.e1. doi: 10.1053/j.gastro.2014.08.041. Epub 2014 Sep 3.

7.

Recurrence and variability of germline EPCAM deletions in Lynch syndrome.

Kuiper RP, Vissers LE, Venkatachalam R, Bodmer D, Hoenselaar E, Goossens M, Haufe A, Kamping E, Niessen RC, Hogervorst FB, Gille JJ, Redeker B, Tops CM, van Gijn ME, van den Ouweland AM, Rahner N, Steinke V, Kahl P, Holinski-Feder E, Morak M, Kloor M, Stemmler S, Betz B, Hutter P, Bunyan DJ, Syngal S, Culver JO, Graham T, Chan TL, Nagtegaal ID, van Krieken JH, Schackert HK, Hoogerbrugge N, van Kessel AG, Ligtenberg MJ.

Hum Mutat. 2011 Apr;32(4):407-14. doi: 10.1002/humu.21446. Epub 2011 Mar 1.

PMID:
21309036
8.

Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases.

Rumilla K, Schowalter KV, Lindor NM, Thomas BC, Mensink KA, Gallinger S, Holter S, Newcomb PA, Potter JD, Jenkins MA, Hopper JL, Long TI, Weisenberger DJ, Haile RW, Casey G, Laird PW, Le Marchand L, Thibodeau SN.

J Mol Diagn. 2011 Jan;13(1):93-9. doi: 10.1016/j.jmoldx.2010.11.011. Epub 2010 Dec 23.

9.

Analysis of EPCAM protein expression in diagnostics of Lynch syndrome.

Kloor M, Voigt AY, Schackert HK, Schirmacher P, von Knebel Doeberitz M, Bläker H.

J Clin Oncol. 2011 Jan 10;29(2):223-7. doi: 10.1200/JCO.2010.32.0820. Epub 2010 Nov 29.

PMID:
21115857
10.

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.

Am J Gastroenterol. 2011 Oct;106(10):1829-36. doi: 10.1038/ajg.2011.203. Epub 2011 Jul 19.

11.

Usefulness of epithelial cell adhesion molecule expression in the algorithmic approach to Lynch syndrome identification.

Musulen E, Blanco I, Carrato C, Fernandez-Figueras MT, Pineda M, Capella G, Ariza A.

Hum Pathol. 2013 Mar;44(3):412-6. doi: 10.1016/j.humpath.2012.06.006. Epub 2012 Sep 29.

PMID:
23026194
12.

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study.

Kempers MJ, Kuiper RP, Ockeloen CW, Chappuis PO, Hutter P, Rahner N, Schackert HK, Steinke V, Holinski-Feder E, Morak M, Kloor M, Büttner R, Verwiel ET, van Krieken JH, Nagtegaal ID, Goossens M, van der Post RS, Niessen RC, Sijmons RH, Kluijt I, Hogervorst FB, Leter EM, Gille JJ, Aalfs CM, Redeker EJ, Hes FJ, Tops CM, van Nesselrooij BP, van Gijn ME, Gómez García EB, Eccles DM, Bunyan DJ, Syngal S, Stoffel EM, Culver JO, Palomares MR, Graham T, Velsher L, Papp J, Oláh E, Chan TL, Leung SY, van Kessel AG, Kiemeney LA, Hoogerbrugge N, Ligtenberg MJ.

Lancet Oncol. 2011 Jan;12(1):49-55. doi: 10.1016/S1470-2045(10)70265-5. Epub 2010 Dec 8.

13.

The molecular basis of EPCAM expression loss in Lynch syndrome-associated tumors.

Huth C, Kloor M, Voigt AY, Bozukova G, Evers C, Gaspar H, Tariverdian M, Schirmacher P, von Knebel Doeberitz M, Bläker H.

Mod Pathol. 2012 Jun;25(6):911-6. doi: 10.1038/modpathol.2012.30. Epub 2012 Mar 2.

14.

Identification of a founder EPCAM deletion in Spanish Lynch syndrome families.

Mur P, Pineda M, Romero A, Del Valle J, Borràs E, Canal A, Navarro M, Brunet J, Rueda D, Ramón Y Cajal T, Lázaro C, Caldés T, Blanco I, Soto JL, Capellá G.

Clin Genet. 2014 Mar;85(3):260-6. doi: 10.1111/cge.12152. Epub 2013 Apr 26.

PMID:
23530899
15.

Lynch-like syndrome: characterization and comparison with EPCAM deletion carriers.

Kang SY, Park CK, Chang DK, Kim JW, Son HJ, Cho YB, Yun SH, Kim HC, Kwon M, Kim KM.

Int J Cancer. 2015 Apr 1;136(7):1568-78. doi: 10.1002/ijc.29133. Epub 2014 Aug 22.

16.

Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

Vargas-Parra GM, González-Acosta M, Thompson BA, Gómez C, Fernández A, Dámaso E, Pons T, Morak M, Del Valle J, Iglesias S, Velasco À, Solanes A, Sanjuan X, Padilla N, de la Cruz X, Valencia A, Holinski-Feder E, Brunet J, Feliubadaló L, Lázaro C, Navarro M, Pineda M, Capellá G.

Int J Cancer. 2017 Oct 1;141(7):1365-1380. doi: 10.1002/ijc.30820. Epub 2017 Jul 3.

PMID:
28577310
17.

EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients.

Ligtenberg MJ, Kuiper RP, Geurts van Kessel A, Hoogerbrugge N.

Fam Cancer. 2013 Jun;12(2):169-74. doi: 10.1007/s10689-012-9591-x. Review.

PMID:
23264089
18.

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, Goossens M, Hebeda KM, Voorendt M, Lee TY, Bodmer D, Hoenselaar E, Hendriks-Cornelissen SJ, Tsui WY, Kong CK, Brunner HG, van Kessel AG, Yuen ST, van Krieken JH, Leung SY, Hoogerbrugge N.

Nat Genet. 2009 Jan;41(1):112-7. doi: 10.1038/ng.283. Epub 2008 Dec 21.

PMID:
19098912
19.

Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome.

Kovacs ME, Papp J, Szentirmay Z, Otto S, Olah E.

Hum Mutat. 2009 Feb;30(2):197-203. doi: 10.1002/humu.20942.

PMID:
19177550
20.

Alu in Lynch syndrome: a danger SINE?

Hitchins MP, Burn J.

Cancer Prev Res (Phila). 2011 Oct;4(10):1527-30. doi: 10.1158/1940-6207.CAPR-11-0417.

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