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Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.
de Voer RM, Hahn MM, Mensenkamp AR, Hoischen A, Gilissen C, Henkes A, Spruijt L, van Zelst-Stams WA, Kets CM, Verwiel ET, Nagtegaal ID, Schackert HK, van Kessel AG, Hoogerbrugge N, Ligtenberg MJ, Kuiper RP. de Voer RM, et al. Among authors: mensenkamp ar. Sci Rep. 2015 Sep 11;5:14060. doi: 10.1038/srep14060. Sci Rep. 2015. PMID: 26358404 Free PMC article.
The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype.
Kwok CT, Vogelaar IP, van Zelst-Stams WA, Mensenkamp AR, Ligtenberg MJ, Rapkins RW, Ward RL, Chun N, Ford JM, Ladabaum U, McKinnon WC, Greenblatt MS, Hitchins MP. Kwok CT, et al. Among authors: mensenkamp ar. Eur J Hum Genet. 2014 May;22(5):617-24. doi: 10.1038/ejhg.2013.200. Epub 2013 Oct 2. Eur J Hum Genet. 2014. PMID: 24084575 Free PMC article.
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.
Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, Rodenburg RJ, Yntema HG, Spruijt L, Vermeer S, Rinne T, van Gassen KL, Bodmer D, Lugtenberg D, de Reuver R, Buijsman W, Derks RC, Wieskamp N, van den Heuvel B, Ligtenberg MJ, Kremer H, Koolen DA, van de Warrenburg BP, Cremers FP, Marcelis CL, Smeitink JA, Wortmann SB, van Zelst-Stams WA, Veltman JA, Brunner HG, Scheffer H, Nelen MR. Neveling K, et al. Among authors: mensenkamp ar. Hum Mutat. 2013 Dec;34(12):1721-6. doi: 10.1002/humu.22450. Epub 2013 Oct 18. Hum Mutat. 2013. PMID: 24123792
Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations.
Brohet RM, Velthuizen ME, Hogervorst FB, Meijers-Heijboer HE, Seynaeve C, Collée MJ, Verhoef S, Ausems MG, Hoogerbrugge N, van Asperen CJ, Gómez García E, Menko F, Oosterwijk JC, Devilee P, van't Veer LJ, van Leeuwen FE, Easton DF, Rookus MA, Antoniou AC; HEBON Resource. Brohet RM, et al. J Med Genet. 2014 Feb;51(2):98-107. doi: 10.1136/jmedgenet-2013-101974. Epub 2013 Nov 27. J Med Genet. 2014. PMID: 24285858
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. Wielders EA, et al. Among authors: mensenkamp ar. J Med Genet. 2014 Apr;51(4):245-53. doi: 10.1136/jmedgenet-2013-101987. Epub 2014 Feb 5. J Med Genet. 2014. PMID: 24501230
Improved overall survival after contralateral risk-reducing mastectomy in BRCA1/2 mutation carriers with a history of unilateral breast cancer: a prospective analysis.
Heemskerk-Gerritsen BA, Rookus MA, Aalfs CM, Ausems MG, Collée JM, Jansen L, Kets CM, Keymeulen KB, Koppert LB, Meijers-Heijboer HE, Mooij TM, Tollenaar RA, Vasen HF; HEBON; Hooning MJ, Seynaeve C. Heemskerk-Gerritsen BA, et al. Int J Cancer. 2015 Feb 1;136(3):668-77. doi: 10.1002/ijc.29032. Epub 2014 Jul 8. Int J Cancer. 2015. PMID: 24947112 Free article.
109 results