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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: verhoef s. J Med Genet. 2010 Jun;47(6):421-8. doi: 10.1136/jmg.2009.073429. J Med Genet. 2010. PMID: 20522432 Free article.
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: verhoef s. Fam Cancer. 2007;6(3):311-6. doi: 10.1007/s10689-006-9115-7. Epub 2007 Feb 23. Fam Cancer. 2007. PMID: 17318340
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: verhoef s. 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.
Genetic testing in Li-Fraumeni syndrome: uptake and psychosocial consequences.
Lammens CR, Aaronson NK, Wagner A, Sijmons RH, Ausems MG, Vriends AH, Ruijs MW, van Os TA, Spruijt L, Gómez García EB, Kluijt I, Nagtegaal T, Verhoef S, Bleiker EM. Lammens CR, et al. Among authors: verhoef s. J Clin Oncol. 2010 Jun 20;28(18):3008-14. doi: 10.1200/JCO.2009.27.2112. Epub 2010 May 17. J Clin Oncol. 2010. PMID: 20479422
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. Among authors: verhoef s. 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
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
Lakeman IMM, van den Broek AJ, Vos JAM, Barnes DR, Adlard J, Andrulis IL, Arason A, Arnold N, Arun BK, Balmaña J, Barrowdale D, Benitez J, Borg A, Caldés T, Caligo MA, Chung WK, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators; Collée JM, Couch FJ, Daly MB, Dennis J, Dhawan M, Domchek SM, Eeles R, Engel C, Evans DG, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Gayther SA, Gerdes AM, Godwin AK, Goldgar DE, Hahnen E, Hake CR, Hamann U, Hogervorst FBL, Hooning MJ, Hopper JL, Hulick PJ, Imyanitov EN; OCGN Investigators; HEBON Investigators; KconFab Investigators; Isaacs C, Izatt L, Jakubowska A, James PA, Janavicius R, Jensen UB, Jiao Y, John EM, Joseph V, Karlan BY, Kets CM, Konstantopoulou I, Kwong A, Legrand C, Leslie G, Lesueur F, Loud JT, Lubiński J, Manoukian S, McGuffog L, Miller A, Gomes DM, Montagna M, Mouret-Fourme E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Olah E, Olopade OI, Park SK, Parsons MT, Peterlongo P, Piedmonte M, Radice P, Rantala J, Rennert G, Risch HA, Schmutzler RK, Sharma P, Simard J, Singer CF, Stadler Z, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Teulé A, Thomassen M, Thull DL, Tischkowitz M, Toland AE… See abstract for full author list ➔ Lakeman IMM, et al. Genet Med. 2021 Sep;23(9):1726-1737. doi: 10.1038/s41436-021-01198-7. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113011 Free PMC article.
Prediction of BRCA1-association in hereditary non-BRCA1/2 breast carcinomas with array-CGH.
Joosse SA, van Beers EH, Tielen IH, Horlings H, Peterse JL, Hoogerbrugge N, Ligtenberg MJ, Wessels LF, Axwijk P, Verhoef S, Hogervorst FB, Nederlof PM. Joosse SA, et al. Among authors: verhoef s. Breast Cancer Res Treat. 2009 Aug;116(3):479-89. doi: 10.1007/s10549-008-0117-z. Epub 2008 Aug 14. Breast Cancer Res Treat. 2009. PMID: 18704682
160 results