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TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.
Ruijs MW, Verhoef S, Rookus MA, Pruntel R, van der Hout AH, Hogervorst FB, Kluijt I, Sijmons RH, Aalfs CM, Wagner A, Ausems MG, Hoogerbrugge N, van Asperen CJ, Gomez Garcia EB, Meijers-Heijboer H, Ten Kate LP, Menko FH, van 't Veer LJ. Ruijs MW, et al. Among authors: wagner a. J Med Genet. 2010 Jun;47(6):421-8. doi: 10.1136/jmg.2009.073429. J Med Genet. 2010. PMID: 20522432 Free article.
Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.
Wagner A, Barrows A, Wijnen JT, van der Klift H, Franken PF, Verkuijlen P, Nakagawa H, Geugien M, Jaghmohan-Changur S, Breukel C, Meijers-Heijboer H, Morreau H, van Puijenbroek M, Burn J, Coronel S, Kinarski Y, Okimoto R, Watson P, Lynch JF, de la Chapelle A, Lynch HT, Fodde R. Wagner A, et al. Am J Hum Genet. 2003 May;72(5):1088-100. doi: 10.1086/373963. Epub 2003 Mar 25. Am J Hum Genet. 2003. PMID: 12658575 Free PMC article.
The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype.
Meijers-Heijboer H, Wijnen J, Vasen H, Wasielewski M, Wagner A, Hollestelle A, Elstrodt F, van den Bos R, de Snoo A, Fat GT, Brekelmans C, Jagmohan S, Franken P, Verkuijlen P, van den Ouweland A, Chapman P, Tops C, Möslein G, Burn J, Lynch H, Klijn J, Fodde R, Schutte M. Meijers-Heijboer H, et al. Among authors: wagner a. Am J Hum Genet. 2003 May;72(5):1308-14. doi: 10.1086/375121. Epub 2003 Apr 10. Am J Hum Genet. 2003. PMID: 12690581 Free PMC article.
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.
Hendriks YM, Wagner A, Morreau H, Menko F, Stormorken A, Quehenberger F, Sandkuijl L, Møller P, Genuardi M, Van Houwelingen H, Tops C, Van Puijenbroek M, Verkuijlen P, Kenter G, Van Mil A, Meijers-Heijboer H, Tan GB, Breuning MH, Fodde R, Wijnen JT, Bröcker-Vriends AH, Vasen H. Hendriks YM, et al. Among authors: wagner a. Gastroenterology. 2004 Jul;127(1):17-25. doi: 10.1053/j.gastro.2004.03.068. Gastroenterology. 2004. PMID: 15236168
Two TP53 germline mutations in a classical Li-Fraumeni syndrome family.
van Hest LP, Ruijs MW, Wagner A, van der Meer CA, Verhoef S, van't Veer LJ, Meijers-Heijboer H. van Hest LP, et al. Among authors: wagner a. Fam Cancer. 2007;6(3):311-6. doi: 10.1007/s10689-006-9115-7. Epub 2007 Feb 23. Fam Cancer. 2007. PMID: 17318340
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. Among authors: wagner a. Gastroenterology. 2009 Jan;136(1):131-7. doi: 10.1053/j.gastro.2008.09.033. Epub 2008 Sep 25. Gastroenterology. 2009. PMID: 19010329
The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.
Ruijs MW, Broeks A, Menko FH, Ausems MG, Wagner A, Oldenburg R, Meijers-Heijboer H, van't Veer LJ, Verhoef S. Ruijs MW, et al. Among authors: wagner a. Hered Cancer Clin Pract. 2009 Feb 17;7(1):4. doi: 10.1186/1897-4287-7-4. Hered Cancer Clin Pract. 2009. PMID: 19338683 Free PMC article.
5,073 results