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Items: 1 to 20 of 211

1.

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.

2.

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.

3.

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.

4.

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
5.

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.

Fam Cancer. 2007;6(3):301-10. Epub 2007 Apr 24.

PMID:
17453358
6.

Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC).

Newton K, Jorgensen NM, Wallace AJ, Buchanan DD, Lalloo F, McMahon RF, Hill J, Evans DG.

J Med Genet. 2014 Dec;51(12):789-96. doi: 10.1136/jmedgenet-2014-102552. Epub 2014 Oct 3.

7.

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.

8.

Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.

Morak M, Koehler U, Schackert HK, Steinke V, Royer-Pokora B, Schulmann K, Kloor M, Höchter W, Weingart J, Keiling C, Massdorf T, Holinski-Feder E; German HNPCC consortium.

J Med Genet. 2011 Aug;48(8):513-9. doi: 10.1136/jmedgenet-2011-100050. Epub 2011 Jun 28.

PMID:
21712435
9.

Early onset MSI-H colon cancer with MLH1 promoter methylation, is there a genetic predisposition?

van Roon EH, van Puijenbroek M, Middeldorp A, van Eijk R, de Meijer EJ, Erasmus D, Wouters KA, van Engeland M, Oosting J, Hes FJ, Tops CM, van Wezel T, Boer JM, Morreau H.

BMC Cancer. 2010 May 5;10:180. doi: 10.1186/1471-2407-10-180.

10.

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
11.

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
12.

MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria.

Crucianelli F, Tricarico R, Turchetti D, Gorelli G, Gensini F, Sestini R, Giunti L, Pedroni M, Ponz de Leon M, Civitelli S, Genuardi M.

Epigenetics. 2014 Oct;9(10):1431-8. doi: 10.4161/15592294.2014.970080.

13.

Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer.

Moreira L, Muñoz J, Cuatrecasas M, Quintanilla I, Leoz ML, Carballal S, Ocaña T, López-Cerón M, Pellise M, Castellví-Bel S, Jover R, Andreu M, Carracedo A, Xicola RM, Llor X, Boland CR, Goel A, Castells A, Balaguer F; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association.

Cancer. 2015 May 1;121(9):1395-404. doi: 10.1002/cncr.29190. Epub 2014 Dec 29.

14.

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.

Oncol Rep. 2009 Jun;21(6):1577-83.

PMID:
19424639
15.

Aberrant DNA methylation in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency.

Goel A, Xicola RM, Nguyen TP, Doyle BJ, Sohn VR, Bandipalliam P, Rozek LS, Reyes J, Cordero C, Balaguer F, Castells A, Jover R, Andreu M, Syngal S, Boland CR, Llor X.

Gastroenterology. 2010 May;138(5):1854-62. doi: 10.1053/j.gastro.2010.01.035. Epub 2010 Jan 25.

16.

Analysis of mismatch repair gene mutations in Turkish HNPCC patients.

Tunca B, Pedroni M, Cecener G, Egeli U, Borsi E, Zorluoglu A, Di Gregorio C, Yilmazlar T, Yerci O, de Leon MP.

Fam Cancer. 2010 Sep;9(3):365-76. doi: 10.1007/s10689-010-9336-7.

PMID:
20373145
17.

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
18.

Methylation pattern of different regions of the MLH1 promoter and silencing of gene expression in hereditary and sporadic colorectal cancer.

Menigatti M, Di Gregorio C, Borghi F, Sala E, Scarselli A, Pedroni M, Foroni M, Benatti P, Roncucci L, Ponz de Leon M, Percesepe A.

Genes Chromosomes Cancer. 2001 Aug;31(4):357-61.

PMID:
11433526
19.

The role of clinical criteria, genetic and epigenetic alterations in Lynch-syndrome diagnosis.

Alemayehu A, Tomkova K, Zavodna K, Ventusova K, Krivulcik T, Bujalkova M, Bartosova Z, Fridrichova I.

Neoplasma. 2007;54(5):391-401.

PMID:
17688369
20.

Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification.

Parsons MT, Buchanan DD, Thompson B, Young JP, Spurdle AB.

J Med Genet. 2012 Mar;49(3):151-7. doi: 10.1136/jmedgenet-2011-100714. Review.

PMID:
22368298

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