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Items: 1 to 20 of 47

1.

Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.

Drost M, Lützen A, van Hees S, Ferreira D, Calléja F, Zonneveld JB, Nielsen FC, Rasmussen LJ, de Wind N.

Proc Natl Acad Sci U S A. 2013 Jun 4;110(23):9403-8. doi: 10.1073/pnas.1220537110. Epub 2013 May 20.

2.

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. Epub 2016 Mar 7.

3.

Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair.

Wielders EA, Hettinger J, Dekker R, Kets CM, Ligtenberg MJ, Mensenkamp AR, van den Ouweland AM, Prins J, Wagner A, Dinjens WN, Dubbink HJ, van Hest LP, Menko F, Hogervorst F, Verhoef S, te Riele H.

J Med Genet. 2014 Apr;51(4):245-53. doi: 10.1136/jmedgenet-2013-101987. Epub 2014 Feb 5.

PMID:
24501230
4.

A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

Drost M, Zonneveld JB, van Hees S, Rasmussen LJ, Hofstra RM, de Wind N.

Hum Mutat. 2012 Mar;33(3):488-94. doi: 10.1002/humu.22000. Epub 2011 Dec 29.

PMID:
22102614
5.

Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.

Rasmussen LJ, Heinen CD, Royer-Pokora B, Drost M, Tavtigian S, Hofstra RM, de Wind N.

Hum Mutat. 2012 Dec;33(12):1617-25. doi: 10.1002/humu.22168. Epub 2012 Aug 13. Review.

PMID:
22833534
6.

A database to support the interpretation of human mismatch repair gene variants.

Ou J, Niessen RC, Vonk J, Westers H, Hofstra RM, Sijmons RH.

Hum Mutat. 2008 Nov;29(11):1337-41. doi: 10.1002/humu.20907.

PMID:
18951442
7.

Two mismatch repair gene mutations found in a colon cancer patient--which one is pathogenic?

Kariola R, Otway R, Lönnqvist KE, Raevaara TE, Macrae F, Vos YJ, Kohonen-Corish M, Hofstra RM, Nyström-Lahti M.

Hum Genet. 2003 Feb;112(2):105-9. Epub 2002 Nov 21.

PMID:
12522549
8.

Frequency and variability of genomic rearrangements on MSH2 in Spanish Lynch Syndrome families.

Romero A, Garre P, Valentin O, Sanz J, Pérez-Segura P, Llovet P, Díaz-Rubio E, de la Hoya M, Caldés T.

PLoS One. 2013 Sep 11;8(9):e72195. doi: 10.1371/journal.pone.0072195. eCollection 2013.

9.

Truncation of the MSH2 C-terminal 60 amino acids disrupts effective DNA mismatch repair and is causative for Lynch syndrome.

Wielders E, Delzenne-Goette E, Dekker R, van der Valk M, Te Riele H.

Fam Cancer. 2017 Apr;16(2):221-229. doi: 10.1007/s10689-016-9945-x.

PMID:
27873144
10.

Functional analysis of HNPCC-related missense mutations in MSH2.

Lützen A, de Wind N, Georgijevic D, Nielsen FC, Rasmussen LJ.

Mutat Res. 2008 Oct 14;645(1-2):44-55. doi: 10.1016/j.mrfmmm.2008.08.015. Epub 2008 Sep 4.

PMID:
18822302
11.

Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome.

Liu Q, Thompson BA, Ward RL, Hesson LB, Sloane MA.

Hum Mutat. 2016 May;37(5):417-26. doi: 10.1002/humu.22971. Epub 2016 Mar 18. Review.

PMID:
26888055
12.

Characterization of new founder Alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype.

Pérez-Cabornero L, Borrás Flores E, Infante Sanz M, Velasco Sampedro E, Acedo Becares A, Lastra Aras E, Cuevas González J, Pineda Riu M, Ramón y Cajal Asensio T, Capellá Munar G, Miner Pino C, Durán Domínguez M.

Cancer Prev Res (Phila). 2011 Oct;4(10):1546-55. doi: 10.1158/1940-6207.CAPR-11-0227. Epub 2011 Jul 21.

13.

Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.

Houlleberghs H, Goverde A, Lusseveld J, Dekker M, Bruno MJ, Menko FH, Mensenkamp AR, Spaander MCW, Wagner A, Hofstra RMW, Te Riele H.

PLoS Genet. 2017 May 22;13(5):e1006765. doi: 10.1371/journal.pgen.1006765. eCollection 2017 May.

14.

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Yurgelun MB, Allen B, Kaldate RR, Bowles KR, Judkins T, Kaushik P, Roa BB, Wenstrup RJ, Hartman AR, Syngal S.

Gastroenterology. 2015 Sep;149(3):604-13.e20. doi: 10.1053/j.gastro.2015.05.006. Epub 2015 May 14.

15.

Mechanisms of pathogenicity in human MSH2 missense mutants.

Ollila S, Dermadi Bebek D, Jiricny J, Nyström M.

Hum Mutat. 2008 Nov;29(11):1355-63. doi: 10.1002/humu.20893.

PMID:
18951462
16.

Prospective results of surveillance colonoscopy in dominant familial colorectal cancer with and without Lynch syndrome.

Dove-Edwin I, de Jong AE, Adams J, Mesher D, Lipton L, Sasieni P, Vasen HF, Thomas HJ.

Gastroenterology. 2006 Jun;130(7):1995-2000.

PMID:
16762622
17.

Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians.

Sijmons RH, Greenblatt MS, Genuardi M.

Fam Cancer. 2013 Jun;12(2):181-7. doi: 10.1007/s10689-013-9629-8.

PMID:
23525798
18.

Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing.

Terdiman JP, Gum JR Jr, Conrad PG, Miller GA, Weinberg V, Crawley SC, Levin TR, Reeves C, Schmitt A, Hepburn M, Sleisenger MH, Kim YS.

Gastroenterology. 2001 Jan;120(1):21-30.

PMID:
11208710
19.

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.

20.

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.

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