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Items: 1 to 20 of 106

1.

MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer.

Hitchins M, Williams R, Cheong K, Halani N, Lin VA, Packham D, Ku S, Buckle A, Hawkins N, Burn J, Gallinger S, Goldblatt J, Kirk J, Tomlinson I, Scott R, Spigelman A, Suter C, Martin D, Suthers G, Ward R.

Gastroenterology. 2005 Nov;129(5):1392-9.

PMID:
16285940
2.

MLH1 methylation screening is effective in identifying epimutation carriers.

Pineda M, Mur P, Iniesta MD, Borràs E, Campos O, Vargas G, Iglesias S, Fernández A, Gruber SB, Lázaro C, Brunet J, Navarro M, Blanco I, Capellá G.

Eur J Hum Genet. 2012 Dec;20(12):1256-64. doi: 10.1038/ejhg.2012.136. Epub 2012 Jul 4.

3.

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.

Goel A, Nguyen TP, Leung HC, Nagasaka T, Rhees J, Hotchkiss E, Arnold M, Banerji P, Koi M, Kwok CT, Packham D, Lipton L, Boland CR, Ward RL, Hitchins MP.

Int J Cancer. 2011 Feb 15;128(4):869-78. doi: 10.1002/ijc.25422.

4.

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.

Clin Genet. 2007 Mar;71(3):232-7.

PMID:
17309645
5.

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.

6.

Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer.

Hitchins MP, Ward RL.

J Med Genet. 2009 Dec;46(12):793-802. doi: 10.1136/jmg.2009.068122. Epub 2009 Jun 29. Review.

PMID:
19564652
7.

[The first molecular analysis of a Hungarian HNPCC family: a novel MSH2 germline mutation].

Czakó L, Tiszlavicz L, Takács R, Baradnay G, Lonovics J, Cserni G, Závodná K, Bartosova Z.

Orv Hetil. 2005 May 15;146(20):1009-16. Hungarian.

PMID:
15945244
8.

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.

Eur J Hum Genet. 2008 Jul;16(7):804-11. doi: 10.1038/ejhg.2008.25. Epub 2008 Feb 27.

9.

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.

Clin Cancer Res. 2007 Jun 1;13(11):3221-8.

10.

Hereditary colorectal cancer in the general population: from cancer registration to molecular diagnosis.

de Leon MP, Pedroni M, Benatti P, Percesepe A, Di Gregorio C, Foroni M, Rossi G, Genuardi M, Neri G, Leonardi F, Viel A, Capozzi E, Boiocchi M, Roncucci L.

Gut. 1999 Jul;45(1):32-8.

11.

Family history characteristics, tumor microsatellite instability and germline MSH2 and MLH1 mutations in hereditary colorectal cancer.

Bapat BV, Madlensky L, Temple LK, Hiruki T, Redston M, Baron DL, Xia L, Marcus VA, Soravia C, Mitri A, Shen W, Gryfe R, Berk T, Chodirker BN, Cohen Z, Gallinger S.

Hum Genet. 1999 Feb;104(2):167-76.

PMID:
10190329
12.

Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.

Piñol V, Castells A, Andreu M, Castellví-Bel S, Alenda C, Llor X, Xicola RM, Rodríguez-Moranta F, Payá A, Jover R, Bessa X; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association.

JAMA. 2005 Apr 27;293(16):1986-94.

PMID:
15855432
13.

Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain.

Caldes T, Godino J, de la Hoya M, Garcia Carbonero I, Perez Segura P, Eng C, Benito M, Diaz-Rubio E.

Int J Cancer. 2002 Apr 10;98(5):774-9.

14.

Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort.

Hitchins MP, Owens SE, Kwok CT, Godsmark G, Algar UF, Ramesar RS.

Clin Genet. 2011 Nov;80(5):428-34. doi: 10.1111/j.1399-0004.2011.01660.x. Epub 2011 May 4.

PMID:
21375527
15.

Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer.

Sheng JQ, Chan TL, Chan YW, Huang JS, Chen JG, Zhang MZ, Guo XL, Mu H, Chan AS, Li SR, Yuen ST, Leung SY.

Chin J Dig Dis. 2006;7(4):197-205.

PMID:
17054581
16.

Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers.

Zhang J, Lindroos A, Ollila S, Russell A, Marra G, Mueller H, Peltomaki P, Plasilova M, Heinimann K.

Cancer Res. 2006 Jan 15;66(2):659-64.

17.

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
18.

Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.

Plaschke J, Engel C, Krüger S, Holinski-Feder E, Pagenstecher C, Mangold E, Moeslein G, Schulmann K, Gebert J, von Knebel Doeberitz M, Rüschoff J, Loeffler M, Schackert HK.

J Clin Oncol. 2004 Nov 15;22(22):4486-94. Epub 2004 Oct 13.

PMID:
15483016
19.

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.

Hum Mutat. 2012 Jan;33(1):180-8. doi: 10.1002/humu.21617. Epub 2011 Oct 31.

PMID:
21953887
20.

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, Peltomäki P, Kolodner RD, Nilbert M, Lindblom A.

J Natl Cancer Inst. 2007 Feb 21;99(4):291-9.

PMID:
17312306

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