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Results: 1 to 20 of 145

1.

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
20473912
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Inheritance of epigenetic aberrations (constitutional epimutations) in cancer susceptibility.

Hitchins MP.

Adv Genet. 2010;70:201-43. doi: 10.1016/B978-0-12-380866-0.60008-3. Review.

PMID:
20920750
[PubMed - indexed for MEDLINE]
6.

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]
7.

Detection of allelic imbalance in MLH1 expression by pyrosequencing serves as a tool for the identification of germline defects in Lynch syndrome.

Kwok CT, Ward RL, Hawkins NJ, Hitchins MP.

Fam Cancer. 2010 Sep;9(3):345-56. doi: 10.1007/s10689-009-9314-0.

PMID:
20063070
[PubMed - indexed for MEDLINE]
8.

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
9.

Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer.

Montazer Haghighi M, Radpour R, Aghajani K, Zali N, Molaei M, Zali MR.

Int J Colorectal Dis. 2009 Aug;24(8):885-93. doi: 10.1007/s00384-009-0731-1. Epub 2009 May 29.

PMID:
19479271
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
Free Article
11.

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
[PubMed - indexed for MEDLINE]
12.

Prognostic relevance of MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer patients.

Russo A, Sala P, Alberici P, Gazzoli I, Radice P, Montefusco C, Torrini M, Mareni C, Fornasarig M, Santarosa M, Viel A, Benatti P, Pedroni M, de Leon MP, Lucci-Cordisco E, Genuardi M, Messerini L, Stigliano V, Cama A, Curia MC, de Lellis L, Signoroni S, Pierotti MA, Bertario L.

Tumori. 2009 Nov-Dec;95(6):731-8. Erratum in: Tumori. 2010 Jan-Feb;96(1):183. Pedroni, Maurizio [corrected to Pedroni, Monica].

PMID:
20210238
[PubMed - indexed for MEDLINE]
13.

[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
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
18301449
[PubMed - indexed for MEDLINE]
Free Article
15.

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]
16.

Genomic rearrangements in MSH2, MLH1 or MSH6 are rare in HNPCC patients carrying point mutations.

Pistorius S, Görgens H, Plaschke J, Hoehl R, Krüger S, Engel C, Saeger HD, Schackert HK.

Cancer Lett. 2007 Apr 8;248(1):89-95. Epub 2006 Jul 11.

PMID:
16837128
[PubMed - indexed for MEDLINE]
17.

Immunohistochemistry and microsatellite instability testing for selecting MLH1, MSH2 and MSH6 mutation carriers in hereditary non-polyposis colorectal cancer.

Caldés T, Godino J, Sanchez A, Corbacho C, De la Hoya M, Lopez Asenjo J, Saez C, Sanz J, Benito M, Ramon Y Cajal S, Diaz-Rubio E.

Oncol Rep. 2004 Sep;12(3):621-9.

PMID:
15289847
[PubMed - indexed for MEDLINE]
18.

Genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC).

Hegde MR, Roa BB.

Curr Protoc Hum Genet. 2009 Apr;Chapter 10:Unit 10.12. doi: 10.1002/0471142905.hg1012s61.

PMID:
19360696
[PubMed - indexed for MEDLINE]
19.

Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree.

Wagner A, Hendriks Y, Meijers-Heijboer EJ, de Leeuw WJ, Morreau H, Hofstra R, Tops C, Bik E, Bröcker-Vriends AH, van Der Meer C, Lindhout D, Vasen HF, Breuning MH, Cornelisse CJ, van Krimpen C, Niermeijer MF, Zwinderman AH, Wijnen J, Fodde R.

J Med Genet. 2001 May;38(5):318-22.

PMID:
11333868
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer.

Malander S, Rambech E, Kristoffersson U, Halvarsson B, Ridderheim M, Borg A, Nilbert M.

Gynecol Oncol. 2006 May;101(2):238-43. Epub 2005 Dec 19.

PMID:
16360201
[PubMed - indexed for MEDLINE]
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