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Items: 18

1.

Role of the clinical pathology laboratory in the evaluation of endometrial carcinomas for Lynch syndrome.

Djordjevic B, Broaddus RR.

Semin Diagn Pathol. 2014 May;31(3):195-204. doi: 10.1053/j.semdp.2014.03.005. Epub 2014 Apr 2. Review.

2.

Genetic testing strategies in newly diagnosed endometrial cancer patients aimed at reducing morbidity or mortality from lynch syndrome in the index case or her relatives.

Stewart A Phd.

PLoS Curr. 2013 Sep 16;5. pii: ecurrents.eogt.b59a6e84f27c536e50db4e46aa26309c. doi: 10.1371/currents.eogt.b59a6e84f27c536e50db4e46aa26309c.

3.

Molecular pathogenesis of endometrial cancers in patients with Lynch syndrome.

Huang M, Djordjevic B, Yates MS, Urbauer D, Sun C, Burzawa J, Daniels M, Westin SN, Broaddus R, Lu K.

Cancer. 2013 Aug 15;119(16):3027-33. doi: 10.1002/cncr.28152. Epub 2013 Jun 12.

4.

Microsatellite instability in pediatric high grade glioma is associated with genomic profile and differential target gene inactivation.

Viana-Pereira M, Lee A, Popov S, Bax DA, Al-Sarraj S, Bridges LR, Stávale JN, Hargrave D, Jones C, Reis RM.

PLoS One. 2011;6(5):e20588. doi: 10.1371/journal.pone.0020588. Epub 2011 May 26.

5.

Application of molecular diagnostics for the detection of Lynch syndrome.

Pino MS, Chung DC.

Expert Rev Mol Diagn. 2010 Jul;10(5):651-65. doi: 10.1586/erm.10.45. Review.

6.

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.

7.

MUTYH Mutations Do Not Cause HNPCC or Late Onset Familial Colorectal Cancer.

Stormorken A, Heintz KM, Andresen PA, Hovig E, Møller P.

Hered Cancer Clin Pract. 2006 May 15;4(2):90-3. doi: 10.1186/1897-4287-4-2-90.

8.

A review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory.

van Lier MG, Wagner A, van Leerdam ME, Biermann K, Kuipers EJ, Steyerberg EW, Dubbink HJ, Dinjens WN.

J Cell Mol Med. 2010 Jan;14(1-2):181-97. doi: 10.1111/j.1582-4934.2009.00977.x. Epub 2009 Nov 19. Review.

9.

Cellular/intramuscular myxoma and grade I myxofibrosarcoma are characterized by distinct genetic alterations and specific composition of their extracellular matrix.

Willems SM, Mohseny AB, Balog C, Sewrajsing R, Briaire-de Bruijn IH, Knijnenburg J, Cleton-Jansen AM, Sciot R, Fletcher CD, Deelder AM, Szuhai K, Hensbergen PJ, Hogendoorn PC.

J Cell Mol Med. 2009 Jul;13(7):1291-301. doi: 10.1111/j.1582-4934.2009.00747.x. Epub 2009 Mar 13.

10.

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.

Hofstra RM, Spurdle AB, Eccles D, Foulkes WD, de Wind N, Hoogerbrugge N, Hogervorst FB; IARC Unclassified Genetic Variants Working Group.

Hum Mutat. 2008 Nov;29(11):1292-303. doi: 10.1002/humu.20894.

11.

A review of the clinical relevance of mismatch-repair deficiency in ovarian cancer.

Pal T, Permuth-Wey J, Sellers TA.

Cancer. 2008 Aug 15;113(4):733-42. doi: 10.1002/cncr.23601. Review.

12.

Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer).

Vasen HF, Möslein G, Alonso A, Bernstein I, Bertario L, Blanco I, Burn J, Capella G, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Mecklin JP, Møller P, Nagengast F, Parc Y, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Wijnen J.

J Med Genet. 2007 Jun;44(6):353-62. Epub 2007 Feb 27. Review.

13.

High-resolution analysis of HLA class I alterations in colorectal cancer.

Dierssen JW, de Miranda NF, Mulder A, van Puijenbroek M, Verduyn W, Claas FH, van de Velde CJ, Jan Fleuren G, Cornelisse CJ, Corver WE, Morreau H.

BMC Cancer. 2006 Oct 2;6:233.

14.

Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain.

Sánchez de Abajo A, de la Hoya M, Tosar A, Godino J, Fernández JM, Asenjo JL, Villamil BP, Segura PP, Diaz-Rubio E, Caldes T.

World J Gastroenterol. 2005 Oct 7;11(37):5770-6.

15.

Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer.

Mueller-Koch Y, Vogelsang H, Kopp R, Lohse P, Keller G, Aust D, Muders M, Gross M, Daum J, Schiemann U, Grabowski M, Scholz M, Kerker B, Becker I, Henke G, Holinski-Feder E.

Gut. 2005 Dec;54(12):1733-40. Epub 2005 Jun 14.

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 analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.

Wagner A, Barrows A, Wijnen JT, van der Klift H, Franken PF, Verkuijlen P, Nakagawa H, Geugien M, Jaghmohan-Changur S, Breukel C, Meijers-Heijboer H, Morreau H, van Puijenbroek M, Burn J, Coronel S, Kinarski Y, Okimoto R, Watson P, Lynch JF, de la Chapelle A, Lynch HT, Fodde R.

Am J Hum Genet. 2003 May;72(5):1088-100. Epub 2003 Mar 25.

18.

Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors.

Hendriks Y, Franken P, Dierssen JW, De Leeuw W, Wijnen J, Dreef E, Tops C, Breuning M, Bröcker-Vriends A, Vasen H, Fodde R, Morreau H.

Am J Pathol. 2003 Feb;162(2):469-77.

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