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Items: 20


A promoter polymorphism in the hMLH1 gene (-93G/A) associated with sporadic colorectal cancer.

Zhang LL, Tang XJ, Wang XY, Zhu YW, Peng XB, Gong L.

Oncol Lett. 2016 Nov;12(5):4035-4040. Epub 2016 Sep 26.


Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.

van der Velde KJ, Kuiper J, Thompson BA, Plazzer JP, van Valkenhoef G, de Haan M, Jongbloed JD, Wijmenga C, de Koning TJ, Abbott KM, Sinke R, Spurdle AB, Macrae F, Genuardi M, Sijmons RH, Swertz MA; InSiGHT Group.

Hum Mutat. 2015 Jul;36(7):712-9. doi: 10.1002/humu.22798. Epub 2015 May 20.


A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia.

Hiljadnikova-Bajro M, Josifovski T, Panovski M, Dimovski AJ.

Croat Med J. 2012 Oct;53(5):496-501.


A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.

Perera S, Li B, Tsitsikotas S, Ramyar L, Pollett A, Semotiuk K, Bapat B.

J Mol Diagn. 2010 Nov;12(6):757-64. doi: 10.2353/jmoldx.2010.090240. Epub 2010 Sep 23.


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.


Microsatellite instability in colorectal cancer.

Boland CR, Goel A.

Gastroenterology. 2010 Jun;138(6):2073-2087.e3. doi: 10.1053/j.gastro.2009.12.064. Review.


Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.

Martinez SL, Kolodner RD.

Proc Natl Acad Sci U S A. 2010 Mar 16;107(11):5070-5. doi: 10.1073/pnas.1000798107. Epub 2010 Feb 22.


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.


Identification and dissection of a complex DNA repair sensitivity phenotype in Baker's yeast.

Demogines A, Smith E, Kruglyak L, Alani E.

PLoS Genet. 2008 Jul 11;4(7):e1000123. doi: 10.1371/journal.pgen.1000123.


The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population.

Christensen LL, Madsen BE, Wikman FP, Wiuf C, Koed K, Tjønneland A, Olsen A, Syvänen AC, Andersen CL, Orntoft TF.

BMC Med Genet. 2008 Jun 11;9:52. doi: 10.1186/1471-2350-9-52.


Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors.

Campbell PT, Curtin K, Ulrich CM, Samowitz WS, Bigler J, Velicer CM, Caan B, Potter JD, Slattery ML.

Gut. 2009 May;58(5):661-7. doi: 10.1136/gut.2007.144220. Epub 2008 Jun 3.


Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study.

Jenkins MA, Hayashi S, O'Shea AM, Burgart LJ, Smyrk TC, Shimizu D, Waring PM, Ruszkiewicz AR, Pollett AF, Redston M, Barker MA, Baron JA, Casey GR, Dowty JG, Giles GG, Limburg P, Newcomb P, Young JP, Walsh MD, Thibodeau SN, Lindor NM, Lemarchand L, Gallinger S, Haile RW, Potter JD, Hopper JL, Jass JR; Colon Cancer Family Registry.

Gastroenterology. 2007 Jul;133(1):48-56. Epub 2007 Apr 25.


Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical management.

Guillem JG, Glogowski E, Moore HG, Nafa K, Markowitz AJ, Shia J, Offit K, Ellis NA.

Ann Surg. 2007 Apr;245(4):560-5.


Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair.

Plotz G, Welsch C, Giron-Monzon L, Friedhoff P, Albrecht M, Piiper A, Biondi RM, Lengauer T, Zeuzem S, Raedle J.

Nucleic Acids Res. 2006;34(22):6574-86. Epub 2006 Nov 28.


Hereditary Non-Polyposis Colorectal Cancer: the rise and fall of a confusing term.

Jass JR.

World J Gastroenterol. 2006 Aug 21;12(31):4943-50. Review.


Molecular models for the tissue specificity of DNA mismatch repair-deficient carcinogenesis.

Chao EC, Lipkin SM.

Nucleic Acids Res. 2006 Feb 6;34(3):840-52. Print 2006. Review.


Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas.

Fearnhead NS, Wilding JL, Winney B, Tonks S, Bartlett S, Bicknell DC, Tomlinson IP, Mortensen NJ, Bodmer WF.

Proc Natl Acad Sci U S A. 2004 Nov 9;101(45):15992-7. Epub 2004 Nov 1.

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