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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. 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. Hum Mutat. 2013 Dec;34(12):1721-6. doi: 10.1002/humu.22450. Epub 2013 Oct 18. Hum Mutat. 2013. PMID: 24123792
Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study.
Bancroft EK, Page EC, Castro E, Lilja H, Vickers A, Sjoberg D, Assel M, Foster CS, Mitchell G, Drew K, Mæhle L, Axcrona K, Evans DG, Bulman B, Eccles D, McBride D, van Asperen C, Vasen H, Kiemeney LA, Ringelberg J, Cybulski C, Wokolorczyk D, Selkirk C, Hulick PJ, Bojesen A, Skytte AB, Lam J, Taylor L, Oldenburg R, Cremers R, Verhaegh G, van Zelst-Stams WA, Oosterwijk JC, Blanco I, Salinas M, Cook J, Rosario DJ, Buys S, Conner T, Ausems MG, Ong KR, Hoffman J, Domchek S, Powers J, Teixeira MR, Maia S, Foulkes WD, Taherian N, Ruijs M, Helderman-van den Enden AT, Izatt L, Davidson R, Adank MA, Walker L, Schmutzler R, Tucker K, Kirk J, Hodgson S, Harris M, Douglas F, Lindeman GJ, Zgajnar J, Tischkowitz M, Clowes VE, Susman R, Ramón y Cajal T, Patcher N, Gadea N, Spigelman A, van Os T, Liljegren A, Side L, Brewer C, Brady AF, Donaldson A, Stefansdottir V, Friedman E, Chen-Shtoyerman R, Amor DJ, Copakova L, Barwell J, Giri VN, Murthy V, Nicolai N, Teo SH, Greenhalgh L, Strom S, Henderson A, McGrath J, Gallagher D, Aaronson N, Ardern-Jones A, Bangma C, Dearnaley D, Costello P, Eyfjord J, Rothwell J, Falconer A, Gronberg H, Hamdy FC, Johannsson O, Khoo V, Kote-Jarai Z, Lubinski J, Axcrona … See abstract for full author list ➔ Bancroft EK, et al. Eur Urol. 2014 Sep;66(3):489-99. doi: 10.1016/j.eururo.2014.01.003. Epub 2014 Jan 15. Eur Urol. 2014. PMID: 24484606 Free PMC 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. Nat Genet. 2015 Jun;47(6):668-71. doi: 10.1038/ng.3287. Epub 2015 May 4. Nat Genet. 2015. PMID: 25938944
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. Sci Rep. 2015 Sep 11;5:14060. doi: 10.1038/srep14060. Sci Rep. 2015. PMID: 26358404 Free PMC article.
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