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Page 1
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
Suerink M, van der Klift HM, Ten Broeke SW, Dekkers OM, Bernstein I, Capellá Munar G, Gomez Garcia E, Hoogerbrugge N, Letteboer TG, Menko FH, Lindblom A, Mensenkamp A, Moller P, van Os TA, Rahner N, Redeker BJ, Olderode-Berends MJ, Spruijt L, Vos YJ, Wagner A, Morreau H, Hes FJ, Vasen HF, Tops CM, Wijnen JT, Nielsen M. Suerink M, et al. Among authors: wijnen jt. Genet Med. 2016 Apr;18(4):405-9. doi: 10.1038/gim.2015.83. Epub 2015 Jun 25. Genet Med. 2016. PMID: 26110232 Free article.
Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome.
Wijnen JT, Brohet RM, van Eijk R, Jagmohan-Changur S, Middeldorp A, Tops CM, van Puijenbroek M, Ausems MG, Gómez García E, Hes FJ, Hoogerbrugge N, Menko FH, van Os TA, Sijmons RH, Verhoef S, Wagner A, Nagengast FM, Kleibeuker JH, Devilee P, Morreau H, Goldgar D, Tomlinson IP, Houlston RS, van Wezel T, Vasen HF. Wijnen JT, et al. Gastroenterology. 2009 Jan;136(1):131-7. doi: 10.1053/j.gastro.2008.09.033. Epub 2008 Sep 25. Gastroenterology. 2009. PMID: 19010329
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
van der Klift HM, Tops CM, Bik EC, Boogaard MW, Borgstein AM, Hansson KB, Ausems MG, Gomez Garcia E, Green A, Hes FJ, Izatt L, van Hest LP, Alonso AM, Vriends AH, Wagner A, van Zelst-Stams WA, Vasen HF, Morreau H, Devilee P, Wijnen JT. van der Klift HM, et al. Among authors: wijnen jt. Hum Mutat. 2010 May;31(5):578-87. doi: 10.1002/humu.21229. Hum Mutat. 2010. PMID: 20186688
Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis.
Hes FJ, Ruano D, Nieuwenhuis M, Tops CM, Schrumpf M, Nielsen M, Huijts PE, Wijnen JT, Wagner A, Gómez García EB, Sijmons RH, Menko FH, Letteboer TG, Hoogerbrugge N, Harryvan J, Kampman E, Morreau H, Vasen HF, van Wezel T. Hes FJ, et al. Among authors: wijnen jt. J Med Genet. 2014 Jan;51(1):55-60. doi: 10.1136/jmedgenet-2013-102000. Epub 2013 Nov 19. J Med Genet. 2014. PMID: 24253443 Free PMC article.
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.
ten Broeke SW, Brohet RM, Tops CM, van der Klift HM, Velthuizen ME, Bernstein I, Capellá Munar G, Gomez Garcia E, Hoogerbrugge N, Letteboer TG, Menko FH, Lindblom A, Mensenkamp AR, Moller P, van Os TA, Rahner N, Redeker BJ, Sijmons RH, Spruijt L, Suerink M, Vos YJ, Wagner A, Hes FJ, Vasen HF, Nielsen M, Wijnen JT. ten Broeke SW, et al. Among authors: wijnen jt. J Clin Oncol. 2015 Feb 1;33(4):319-25. doi: 10.1200/JCO.2014.57.8088. Epub 2014 Dec 15. J Clin Oncol. 2015. PMID: 25512458
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
van der Klift HM, Mensenkamp AR, Drost M, Bik EC, Vos YJ, Gille HJ, Redeker BE, Tiersma Y, Zonneveld JB, García EG, Letteboer TG, Olderode-Berends MJ, van Hest LP, van Os TA, Verhoef S, Wagner A, van Asperen CJ, Ten Broeke SW, Hes FJ, de Wind N, Nielsen M, Devilee P, Ligtenberg MJ, Wijnen JT, Tops CM. van der Klift HM, et al. Among authors: wijnen jt. Hum Mutat. 2016 Nov;37(11):1162-1179. doi: 10.1002/humu.23052. Epub 2016 Aug 21. Hum Mutat. 2016. PMID: 27435373
SNP association study in PMS2-associated Lynch syndrome.
Ten Broeke SW, Elsayed FA, Pagan L, Olderode-Berends MJW, Garcia EG, Gille HJP, van Hest LP, Letteboer TGW, van der Kolk LE, Mensenkamp AR, van Os TA, Spruijt L, Redeker BJW, Suerink M, Vos YJ, Wagner A, Wijnen JT, Steyerberg EW, Tops CMJ, van Wezel T, Nielsen M. Ten Broeke SW, et al. Among authors: wijnen jt. Fam Cancer. 2018 Oct;17(4):507-515. doi: 10.1007/s10689-017-0061-3. Fam Cancer. 2018. PMID: 29147930 Free PMC article.
Cancer Risks for PMS2-Associated Lynch Syndrome.
Ten Broeke SW, van der Klift HM, Tops CMJ, Aretz S, Bernstein I, Buchanan DD, de la Chapelle A, Capella G, Clendenning M, Engel C, Gallinger S, Gomez Garcia E, Figueiredo JC, Haile R, Hampel HL, Hopper JL, Hoogerbrugge N, von Knebel Doeberitz M, Le Marchand L, Letteboer TGW, Jenkins MA, Lindblom A, Lindor NM, Mensenkamp AR, Møller P, Newcomb PA, van Os TAM, Pearlman R, Pineda M, Rahner N, Redeker EJW, Olderode-Berends MJW, Rosty C, Schackert HK, Scott R, Senter L, Spruijt L, Steinke-Lange V, Suerink M, Thibodeau S, Vos YJ, Wagner A, Winship I, Hes FJ, Vasen HFA, Wijnen JT, Nielsen M, Win AK. Ten Broeke SW, et al. Among authors: wijnen jt. J Clin Oncol. 2018 Oct 10;36(29):2961-2968. doi: 10.1200/JCO.2018.78.4777. Epub 2018 Aug 30. J Clin Oncol. 2018. PMID: 30161022 Free PMC article.
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Among authors: wijnen j. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
159 results