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Items: 13

1.

Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.

Houlleberghs H, Dekker M, Lantermans H, Kleinendorst R, Dubbink HJ, Hofstra RM, Verhoef S, Te Riele H.

Proc Natl Acad Sci U S A. 2016 Apr 12;113(15):4128-33. doi: 10.1073/pnas.1520813113.

2.

Mismatch repair defects and Lynch syndrome: The role of the basic scientist in the battle against cancer.

Heinen CD.

DNA Repair (Amst). 2016 Feb;38:127-34. doi: 10.1016/j.dnarep.2015.11.025. Review.

3.

NPM-ALK mediates phosphorylation of MSH2 at tyrosine 238, creating a functional deficiency in MSH2 and the loss of mismatch repair.

Bone KM, Wang P, Wu F, Wu C, Li L, Bacani JT, Andrew SE, Lai R.

Blood Cancer J. 2015 May 15;5:e311. doi: 10.1038/bcj.2015.35.

4.

Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays.

Heinen CD, Juel Rasmussen L.

Hered Cancer Clin Pract. 2012 Jul 23;10(1):9. doi: 10.1186/1897-4287-10-9.

5.

Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.

Kantelinen J, Kansikas M, Candelin S, Hampel H, Smith B, Holm L, Kariola R, Nyström M.

Hum Mutat. 2012 Aug;33(8):1294-301. doi: 10.1002/humu.22119.

6.

Multiple factors insulate Msh2-Msh6 mismatch repair activity from defects in Msh2 domain I.

Kumar C, Piacente SC, Sibert J, Bukata AR, O'Connor J, Alani E, Surtees JA.

J Mol Biol. 2011 Aug 26;411(4):765-80. doi: 10.1016/j.jmb.2011.06.030.

7.

Fusion tyrosine kinase NPM-ALK Deregulates MSH2 and suppresses DNA mismatch repair function novel insights into a potent oncoprotein.

Young LC, Bone KM, Wang P, Wu F, Adam BA, Hegazy S, Gelebart P, Holovati J, Li L, Andrew SE, Lai R.

Am J Pathol. 2011 Jul;179(1):411-21. doi: 10.1016/j.ajpath.2011.03.045.

8.

Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

Kansikas M, Kariola R, Nyström M.

Hum Mutat. 2011 Jan;32(1):107-15. doi: 10.1002/humu.21409.

9.

Lynch syndrome-associated mutations in MSH2 alter DNA repair and checkpoint response functions in vivo.

Mastrocola AS, Heinen CD.

Hum Mutat. 2010 Oct;31(10):E1699-708. doi: 10.1002/humu.21333.

10.

MutSbeta exceeds MutSalpha in dinucleotide loop repair.

Kantelinen J, Kansikas M, Korhonen MK, Ollila S, Heinimann K, Kariola R, Nyström M.

Br J Cancer. 2010 Mar 16;102(6):1068-73. doi: 10.1038/sj.bjc.6605531.

11.

Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families.

Heinen CD.

Mutat Res. 2010 Nov 10;693(1-2):32-45. doi: 10.1016/j.mrfmmm.2009.09.004. Review.

12.

Assessment of functional effects of unclassified genetic variants.

Couch FJ, Rasmussen LJ, Hofstra R, Monteiro AN, Greenblatt MS, de Wind N; IARC Unclassified Genetic Variants Working Group..

Hum Mutat. 2008 Nov;29(11):1314-26. doi: 10.1002/humu.20899.

13.

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.

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