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Items: 1 to 20 of 251

1.

Molecular characterization of MSI-H colorectal cancer by MLHI promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening.

Poynter JN, Siegmund KD, Weisenberger DJ, Long TI, Thibodeau SN, Lindor N, Young J, Jenkins MA, Hopper JL, Baron JA, Buchanan D, Casey G, Levine AJ, Le Marchand L, Gallinger S, Bapat B, Potter JD, Newcomb PA, Haile RW, Laird PW; Colon Cancer Family Registry Investigators.

Cancer Epidemiol Biomarkers Prev. 2008 Nov;17(11):3208-15. doi: 10.1158/1055-9965.EPI-08-0512.

2.

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.

3.

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.

4.

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
5.

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
6.

Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

Buchanan DD, Tan YY, Walsh MD, Clendenning M, Metcalf AM, Ferguson K, Arnold ST, Thompson BA, Lose FA, Parsons MT, Walters RJ, Pearson SA, Cummings M, Oehler MK, Blomfield PB, Quinn MA, Kirk JA, Stewart CJ, Obermair A, Young JP, Webb PM, Spurdle AB.

J Clin Oncol. 2014 Jan 10;32(2):90-100. doi: 10.1200/JCO.2013.51.2129. Epub 2013 Dec 9.

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.

MLH1 promoter methylation, diet, and lifestyle factors in mismatch repair deficient colorectal cancer patients from EPIC-Norfolk.

Gay LJ, Arends MJ, Mitrou PN, Bowman R, Ibrahim AE, Happerfield L, Luben R, McTaggart A, Ball RY, Rodwell SA.

Nutr Cancer. 2011;63(7):1000-10. doi: 10.1080/01635581.2011.596987. Epub 2011 Aug 29.

PMID:
21875327
9.

Endometrial tumour BRAF mutations and MLH1 promoter methylation as predictors of germline mismatch repair gene mutation status: a literature review.

Metcalf AM, Spurdle AB.

Fam Cancer. 2014 Mar;13(1):1-12. doi: 10.1007/s10689-013-9671-6. Review.

PMID:
23880961
10.

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
11.

Cancer risks for the relatives of colorectal cancer cases with a methylated MLH1 promoter region: data from the Colorectal Cancer Family Registry.

Levine AJ, Win AK, Buchanan DD, Jenkins MA, Baron JA, Young JP, Long TI, Weisenberger DJ, Laird PW, McCall RL, Duggan DJ, Haile RW.

Cancer Prev Res (Phila). 2012 Feb;5(2):328-35. doi: 10.1158/1940-6207.CAPR-11-0419. Epub 2011 Dec 5.

12.

Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer.

Mrkonjic M, Roslin NM, Greenwood CM, Raptis S, Pollett A, Laird PW, Pethe VV, Chiang T, Daftary D, Dicks E, Thibodeau SN, Gallinger S, Parfrey PS, Younghusband HB, Potter JD, Hudson TJ, McLaughlin JR, Green RC, Zanke BW, Newcomb PA, Paterson AD, Bapat B.

PLoS One. 2010 Oct 13;5(10):e13314. doi: 10.1371/journal.pone.0013314.

13.

Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer.

Niessen RC, Berends MJ, Wu Y, Sijmons RH, Hollema H, Ligtenberg MJ, de Walle HE, de Vries EG, Karrenbeld A, Buys CH, van der Zee AG, Hofstra RM, Kleibeuker JH.

Gut. 2006 Dec;55(12):1781-8. Epub 2006 Apr 24.

14.

[Study of germline mutation of hMSH2, hMSH6 and hMLH1 and methylation of hMLH1 in microsatellite instability colorectal cancer].

Ni M, Jin HY, Ding YJ, Liu F, Ding SQ, Fan ZM, Wang YH.

Zhonghua Wei Chang Wai Ke Za Zhi. 2008 Jul;11(4):358-61. Chinese.

PMID:
18636359
15.

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.

16.

Microsatellite instability, MLH1 promoter methylation, and BRAF mutation analysis in sporadic colorectal cancers of different ethnic groups in Israel.

Vilkin A, Niv Y, Nagasaka T, Morgenstern S, Levi Z, Fireman Z, Fuerst F, Goel A, Boland CR.

Cancer. 2009 Feb 15;115(4):760-9. doi: 10.1002/cncr.24019.

17.

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
18.
19.

Value of immunohistochemical detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasms.

Shia J, Klimstra DS, Nafa K, Offit K, Guillem JG, Markowitz AJ, Gerald WL, Ellis NA.

Am J Surg Pathol. 2005 Jan;29(1):96-104.

PMID:
15613860
20.

Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases.

Mueller J, Gazzoli I, Bandipalliam P, Garber JE, Syngal S, Kolodner RD.

Cancer Res. 2009 Sep 1;69(17):7053-61. doi: 10.1158/0008-5472.CAN-09-0358. Epub 2009 Aug 18.

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