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Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.
Grolleman JE, de Voer RM, Elsayed FA, Nielsen M, Weren RDA, Palles C, Ligtenberg MJL, Vos JR, Ten Broeke SW, de Miranda NFCC, Kuiper RA, Kamping EJ, Jansen EAM, Vink-Börger ME, Popp I, Lang A, Spier I, Hüneburg R, James PA, Li N, Staninova M, Lindsay H, Cockburn D, Spasic-Boskovic O, Clendenning M, Sweet K, Capellá G, Sjursen W, Høberg-Vetti H, Jongmans MC, Neveling K, Geurts van Kessel A, Morreau H, Hes FJ, Sijmons RH, Schackert HK, Ruiz-Ponte C, Dymerska D, Lubinski J, Rivera B, Foulkes WD, Tomlinson IP, Valle L, Buchanan DD, Kenwrick S, Adlard J, Dimovski AJ, Campbell IG, Aretz S, Schindler D, van Wezel T, Hoogerbrugge N, Kuiper RP. Grolleman JE, et al. Among authors: geurts van kessel a. Cancer Cell. 2019 Feb 11;35(2):256-266.e5. doi: 10.1016/j.ccell.2018.12.011. Cancer Cell. 2019. PMID: 30753826 Free article.
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.
Weren RD, Ligtenberg MJ, Kets CM, de Voer RM, Verwiel ET, Spruijt L, van Zelst-Stams WA, Jongmans MC, Gilissen C, Hehir-Kwa JY, Hoischen A, Shendure J, Boyle EA, Kamping EJ, Nagtegaal ID, Tops BB, Nagengast FM, Geurts van Kessel A, van Krieken JH, Kuiper RP, Hoogerbrugge N. Weren RD, et al. Among authors: geurts van kessel a. Nat Genet. 2015 Jun;47(6):668-71. doi: 10.1038/ng.3287. Epub 2015 May 4. Nat Genet. 2015. PMID: 25938944
NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?
Weren RD, Ligtenberg MJ, Geurts van Kessel A, De Voer RM, Hoogerbrugge N, Kuiper RP. Weren RD, et al. Among authors: geurts van kessel a. J Pathol. 2018 Feb;244(2):135-142. doi: 10.1002/path.5002. Epub 2017 Dec 14. J Pathol. 2018. PMID: 29105096 Review.
Germline copy number variation and cancer risk.
Kuiper RP, Ligtenberg MJ, Hoogerbrugge N, Geurts van Kessel A. Kuiper RP, et al. Among authors: geurts van kessel a. Curr Opin Genet Dev. 2010 Jun;20(3):282-9. doi: 10.1016/j.gde.2010.03.005. Epub 2010 Apr 8. Curr Opin Genet Dev. 2010. PMID: 20381334 Review.
The epigenetics of (hereditary) colorectal cancer.
Venkatachalam R, Ligtenberg MJ, Hoogerbrugge N, de Bruijn DR, Kuiper RP, Geurts van Kessel A. Venkatachalam R, et al. Among authors: geurts van kessel a. Cancer Genet Cytogenet. 2010 Nov;203(1):1-6. doi: 10.1016/j.cancergencyto.2010.08.013. Cancer Genet Cytogenet. 2010. PMID: 20951312 Review.
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.
Jongmans MC, Verwiel ET, Heijdra Y, Vulliamy T, Kamping EJ, Hehir-Kwa JY, Bongers EM, Pfundt R, van Emst L, van Leeuwen FN, van Gassen KL, Geurts van Kessel A, Dokal I, Hoogerbrugge N, Ligtenberg MJ, Kuiper RP. Jongmans MC, et al. Among authors: van emst l, van leeuwen fn, geurts van kessel a, van gassen kl. Am J Hum Genet. 2012 Mar 9;90(3):426-33. doi: 10.1016/j.ajhg.2012.01.004. Epub 2012 Feb 16. Am J Hum Genet. 2012. PMID: 22341970 Free PMC article.
Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer.
de Voer RM, Geurts van Kessel A, Weren RD, Ligtenberg MJ, Smeets D, Fu L, Vreede L, Kamping EJ, Verwiel ET, Hahn MM, Ariaans M, Spruijt L, van Essen T, Houge G, Schackert HK, Sheng JQ, Venselaar H, van Ravenswaaij-Arts CM, van Krieken JH, Hoogerbrugge N, Kuiper RP. de Voer RM, et al. Among authors: van essen t, geurts van kessel a, van ravenswaaij arts cm, van krieken jh. Gastroenterology. 2013 Sep;145(3):544-7. doi: 10.1053/j.gastro.2013.06.001. Epub 2013 Jun 5. Gastroenterology. 2013. PMID: 23747338
Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development.
Weren RD, Venkatachalam R, Cazier JB, Farin HF, Kets CM, de Voer RM, Vreede L, Verwiel ET, van Asseldonk M, Kamping EJ, Kiemeney LA, Neveling K, Aben KK, Carvajal-Carmona L, Nagtegaal ID, Schackert HK, Clevers H, van de Wetering M, Tomlinson IP, Ligtenberg MJ, Hoogerbrugge N, Geurts van Kessel A, Kuiper RP. Weren RD, et al. Among authors: geurts van kessel a. J Pathol. 2015 Jun;236(2):155-64. doi: 10.1002/path.4520. Epub 2015 Mar 26. J Pathol. 2015. PMID: 25712196 Free PMC article.
216 results