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Items: 1 to 20 of 147

1.

MUTYH and the mismatch repair system: partners in crime?

Niessen RC, Sijmons RH, Ou J, Olthof SG, Osinga J, Ligtenberg MJ, Hogervorst FB, Weiss MM, Tops CM, Hes FJ, de Bock GH, Buys CH, Kleibeuker JH, Hofstra RM.

Hum Genet. 2006 Mar;119(1-2):206-11. Epub 2006 Jan 12.

PMID:
16408224
2.

Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene.

Win AK, Reece JC, Buchanan DD, Clendenning M, Young JP, Cleary SP, Kim H, Cotterchio M, Dowty JG, MacInnis RJ, Tucker KM, Winship IM, Macrae FA, Burnett T, Le Marchand L, Casey G, Haile RW, Newcomb PA, Thibodeau SN, Lindor NM, Hopper JL, Gallinger S, Jenkins MA.

Fam Cancer. 2015 Dec;14(4):575-83. doi: 10.1007/s10689-015-9824-x.

3.

No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.

Steinke V, Rahner N, Morak M, Keller G, Schackert HK, Görgens H, Schmiegel W, Royer-Pokora B, Dietmaier W, Kloor M, Engel C, Propping P, Aretz S; German HNPCC Consortium.

Eur J Hum Genet. 2008 May;16(5):587-92. doi: 10.1038/ejhg.2008.26. Epub 2008 Feb 27.

4.

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
5.

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.

6.

Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis.

Berends MJ, Wu Y, Sijmons RH, van der Sluis T, Ek WB, Ligtenberg MJ, Arts NJ, ten Hoor KA, Kleibeuker JH, de Vries EG, Mourits MJ, Hollema H, Buys CH, Hofstra RM, van der Zee AG.

J Clin Oncol. 2003 Dec 1;21(23):4364-70.

PMID:
14645426
7.

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
8.

Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.

Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, Schrag D, Meyerhardt JA, Ng K, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Syngal S.

J Clin Oncol. 2017 Apr 1;35(10):1086-1095. doi: 10.1200/JCO.2016.71.0012. Epub 2017 Jan 30.

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
10.

The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas.

Cunningham JM, Kim CY, Christensen ER, Tester DJ, Parc Y, Burgart LJ, Halling KC, McDonnell SK, Schaid DJ, Walsh Vockley C, Kubly V, Nelson H, Michels VV, Thibodeau SN.

Am J Hum Genet. 2001 Oct;69(4):780-90. Epub 2001 Aug 24. Erratum in: Am J Hum Genet 2001 Nov;69(5):1160.

11.

The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family.

van Puijenbroek M, Nielsen M, Reinards TH, Weiss MM, Wagner A, Hendriks YM, Vasen HF, Tops CM, Wijnen J, van Wezel T, Hes FJ, Morreau H.

Fam Cancer. 2007;6(1):43-51.

PMID:
17039270
12.

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.

13.

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
14.

Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: a comprehensive analysis of 3,671 families.

Steinke V, Holzapfel S, Loeffler M, Holinski-Feder E, Morak M, Schackert HK, Görgens H, Pox C, Royer-Pokora B, von Knebel-Doeberitz M, Büttner R, Propping P, Engel C; German HNPCC Consortium.

Int J Cancer. 2014 Jul 1;135(1):69-77. doi: 10.1002/ijc.28650. Epub 2014 Feb 20.

15.

Lynch syndrome screening should be considered for all patients with newly diagnosed endometrial cancer.

Mills AM, Liou S, Ford JM, Berek JS, Pai RK, Longacre TA.

Am J Surg Pathol. 2014 Nov;38(11):1501-9. doi: 10.1097/PAS.0000000000000321.

16.

Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history.

Buttin BM, Powell MA, Mutch DG, Babb SA, Huettner PC, Edmonston TB, Herzog TJ, Rader JS, Gibb RK, Whelan AJ, Goodfellow PJ.

Am J Hum Genet. 2004 Jun;74(6):1262-9. Epub 2004 Apr 19.

17.

Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.

Berends MJ, Wu Y, Sijmons RH, Mensink RG, van der Sluis T, Hordijk-Hos JM, de Vries EG, Hollema H, Karrenbeld A, Buys CH, van der Zee AG, Hofstra RM, Kleibeuker JH.

Am J Hum Genet. 2002 Jan;70(1):26-37.

18.

[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
19.

Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.

De Lellis L, Aceto GM, Curia MC, Catalano T, Mammarella S, Veschi S, Fantini F, Battista P, Stigliano V, Messerini L, Mareni C, Sala P, Bertario L, Radice P, Cama A.

PLoS One. 2013 Nov 20;8(11):e81194. doi: 10.1371/journal.pone.0081194. eCollection 2013.

20.

Prevalence of mismatch repair-deficient crypt foci in Lynch syndrome: a pathological study.

Kloor M, Huth C, Voigt AY, Benner A, Schirmacher P, von Knebel Doeberitz M, Bläker H.

Lancet Oncol. 2012 Jun;13(6):598-606. doi: 10.1016/S1470-2045(12)70109-2. Epub 2012 May 1.

PMID:
22552011

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