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Results: 1 to 20 of 227

1.

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
[PubMed - indexed for MEDLINE]
2.

Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome.

Berginc G, Bracko M, Ravnik-Glavac M, Glavac D.

Fam Cancer. 2009;8(4):421-9. doi: 10.1007/s10689-009-9258-4. Epub 2009 Jun 13.

PMID:
19526325
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
21791569
[PubMed - indexed for MEDLINE]
4.

MLH1 promoter germline-methylation in selected probands of Chinese hereditary non-polyposis colorectal cancer families.

Zhou HH, Yan SY, Zhou XY, Du X, Zhang TM, Cai X, Lu YM, Cai SJ, Shi DR.

World J Gastroenterol. 2008 Dec 28;14(48):7329-34.

PMID:
19109866
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

PMID:
21227399
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

J Pathol. 2008 Jan;214(1):10-6.

PMID:
17973250
[PubMed - indexed for MEDLINE]
7.

Prospective determination of prevalence of lynch syndrome in young women with endometrial cancer.

Lu KH, Schorge JO, Rodabaugh KJ, Daniels MS, Sun CC, Soliman PT, White KG, Luthra R, Gershenson DM, Broaddus RR.

J Clin Oncol. 2007 Nov 20;25(33):5158-64. Epub 2007 Oct 9.

PMID:
17925543
[PubMed - indexed for MEDLINE]
Free Article
8.

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
[PubMed - indexed for MEDLINE]
Free Article
9.

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.

PMID:
20864635
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

"Null pattern" of immunoreactivity in a Lynch syndrome-associated colon cancer due to germline MSH2 mutation and somatic MLH1 hypermethylation.

Hagen CE, Lefferts J, Hornick JL, Srivastava A.

Am J Surg Pathol. 2011 Dec;35(12):1902-5. doi: 10.1097/PAS.0b013e318237c6ab.

PMID:
22067334
[PubMed - indexed for MEDLINE]
11.

Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome.

Gargiulo S, Torrini M, Ollila S, Nasti S, Pastorino L, Cusano R, Bonelli L, Battistuzzi L, Mastracci L, Bruno W, Savarino V, Sciallero S, Borgonovo G, Nyström M, Bianchi-Scarrà G, Mareni C, Ghiorzo P.

Fam Cancer. 2009;8(4):547-53. doi: 10.1007/s10689-009-9285-1.

PMID:
19728162
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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.

Fam Cancer. 2010 Jun;9(2):167-72. doi: 10.1007/s10689-009-9302-4.

PMID:
19949877
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

Redundant DNA methylation in colorectal cancers of Lynch-syndrome patients.

Alemayehu A, Sebova K, Fridrichova I.

Genes Chromosomes Cancer. 2008 Oct;47(10):906-14. doi: 10.1002/gcc.20586.

PMID:
18618713
[PubMed - indexed for MEDLINE]
16.

Spectrum of MLH1 and MSH2 mutations in Chilean families with suspected Lynch syndrome.

Alvarez K, Hurtado C, Hevia MA, Wielandt AM, de la Fuente M, Church J, Carvallo P, López-Köstner F.

Dis Colon Rectum. 2010 Apr;53(4):450-9. doi: 10.1007/DCR.0b013e3181d0c114.

PMID:
20305446
[PubMed - indexed for MEDLINE]
17.

Clinical and molecular detection of inherited colorectal cancers in northeast Italy: a first prospective study of incidence of Lynch syndrome and MUTYH-related colorectal cancer in Italy.

Urso E, Agostini M, Pucciarelli S, Rugge M, Bertorelle R, Maretto I, Bedin C, D'Angelo E, Mescoli C, Zorzi M, Viel A, Bruttocao G, Ferraro B, Erroi F, Contin P, De Salvo GL, Nitti D.

Tumour Biol. 2012 Jun;33(3):857-64. doi: 10.1007/s13277-011-0312-0. Epub 2012 Jan 26.

PMID:
22278153
[PubMed - indexed for MEDLINE]
18.

Detection of mismatch repair gene germline mutation carrier among Chinese population with colorectal cancer.

Jin HY, Liu X, Li VK, Ding Y, Yang B, Geng J, Lai R, Ding S, Ni M, Zhao R.

BMC Cancer. 2008 Feb 7;8:44. doi: 10.1186/1471-2407-8-44.

PMID:
18257912
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Bethesda guidelines: relation to microsatellite instability and MLH1 promoter methylation in patients with colorectal cancer.

Raedle J, Trojan J, Brieger A, Weber N, Schäfer D, Plotz G, Staib-Sebler E, Kriener S, Lorenz M, Zeuzem S.

Ann Intern Med. 2001 Oct 16;135(8 Pt 1):566-76.

PMID:
11601928
[PubMed - indexed for MEDLINE]
20.

Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients.

Zahary MN, Kaur G, Abu Hassan MR, Singh H, Naik VR, Ankathil R.

World J Gastroenterol. 2012 Feb 28;18(8):814-20. doi: 10.3748/wjg.v18.i8.814.

PMID:
22371642
[PubMed - indexed for MEDLINE]
Free PMC Article

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