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Items: 1 to 20 of 222

1.

MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study.

Gausachs M, Mur P, Corral J, Pineda M, González S, Benito L, Menéndez M, Espinàs JA, Brunet J, Iniesta MD, Gruber SB, Lázaro C, Blanco I, Capellá G.

Eur J Hum Genet. 2012 Jul;20(7):762-8. doi: 10.1038/ejhg.2011.277. Epub 2012 Jan 25.

2.

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
3.

A prospective, multicenter, population-based study of BRAF mutational analysis for Lynch syndrome screening.

Bessa X, Ballesté B, Andreu M, Castells A, Bellosillo B, Balaguer F, Castellví-Bel S, Paya A, Jover R, Alenda C, Titó L, Martinez-Villacampa M, Vilella A, Xicola RM, Pons E, Llor X; Gastrointestinal Oncology Group of Spanish Gastroenterological Association.

Clin Gastroenterol Hepatol. 2008 Feb;6(2):206-14. Epub 2007 Dec 21.

PMID:
18096441
4.

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
5.

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
6.

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.

7.

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.

8.

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
9.

BRAF mutation analysis is a valid tool to implement in Lynch syndrome diagnosis in patients classified according to the Bethesda guidelines.

Molinari F, Signoroni S, Lampis A, Bertan C, Perrone F, Sala P, Mondini P, Crippa S, Bertario L, Frattini M.

Tumori. 2014 May-Jun;100(3):315-20. doi: 10.1700/1578.17214.

PMID:
25076244
10.

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
11.

Methylation analysis of MLH1 improves the selection of patients for genetic testing in Lynch syndrome.

Pérez-Carbonell L, Alenda C, Payá A, Castillejo A, Barberá VM, Guillén C, Rojas E, Acame N, Gutiérrez-Aviñó FJ, Castells A, Llor X, Andreu M, Soto JL, Jover R.

J Mol Diagn. 2010 Jul;12(4):498-504. doi: 10.2353/jmoldx.2010.090212. Epub 2010 May 20.

12.

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.

PMID:
25280751
13.

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
14.

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
15.

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.

16.

BRAF V600E-specific immunohistochemistry for the exclusion of Lynch syndrome in MSI-H colorectal cancer.

Capper D, Voigt A, Bozukova G, Ahadova A, Kickingereder P, von Deimling A, von Knebel Doeberitz M, Kloor M.

Int J Cancer. 2013 Oct 1;133(7):1624-30. doi: 10.1002/ijc.28183. Epub 2013 Apr 25.

17.

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.

18.

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
19.

BRAF mutation in sporadic colorectal cancer and Lynch syndrome.

Thiel A, Heinonen M, Kantonen J, Gylling A, Lahtinen L, Korhonen M, Kytölä S, Mecklin JP, Orpana A, Peltomäki P, Ristimäki A.

Virchows Arch. 2013 Nov;463(5):613-21. doi: 10.1007/s00428-013-1470-9. Epub 2013 Aug 21.

PMID:
23963522
20.

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.

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