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A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.
Drost M, Tiersma Y, Thompson BA, Frederiksen JH, Keijzers G, Glubb D, Kathe S, Osinga J, Westers H, Pappas L, Boucher KM, Molenkamp S, Zonneveld JB, van Asperen CJ, Goldgar DE, Wallace SS, Sijmons RH, Spurdle AB, Rasmussen LJ, Greenblatt MS, de Wind N, Tavtigian SV. Drost M, et al. Among authors: van asperen cj. Genet Med. 2019 Jul;21(7):1486-1496. doi: 10.1038/s41436-018-0372-2. Epub 2018 Dec 3. Genet Med. 2019. PMID: 30504929 Free PMC article.
Comparison of individuals opting for BRCA1/2 or HNPCC genetic susceptibility testing with regard to coping, illness perceptions, illness experiences, family system characteristics and hereditary cancer distress.
van Oostrom I, Meijers-Heijboer H, Duivenvoorden HJ, Bröcker-Vriends AH, van Asperen CJ, Sijmons RH, Seynaeve C, Van Gool AR, Klijn JG, Tibben A. van Oostrom I, et al. Among authors: van asperen cj, van gool ar. Patient Educ Couns. 2007 Jan;65(1):58-68. doi: 10.1016/j.pec.2006.05.006. Epub 2006 Jul 26. Patient Educ Couns. 2007. PMID: 16872788
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: van asperen cj, van der hout ah, van t veer lj. J Med Genet. 2010 Jun;47(6):421-8. doi: 10.1136/jmg.2009.073429. J Med Genet. 2010. PMID: 20522432 Free article.
ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.
Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE; ENIGMA. Spurdle AB, et al. Hum Mutat. 2012 Jan;33(1):2-7. doi: 10.1002/humu.21628. Epub 2011 Nov 3. Hum Mutat. 2012. PMID: 21990146 Free PMC article.
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, Pettigrew C; kConFab; Van Asperen CJ, Ausems MG, Kattentidt-Mouravieva AA, van den Ouweland AM; Dutch Belgium UV Consortium; Lindblom A, Pigg MH, Schmutzler RK, Engel C, Meindl A; German Consortium of Hereditary Breast and Ovarian Cancer; Caputo S, Sinilnikova OM, Lidereau R; French COVAR group collaborators; Couch FJ, Guidugli L, Hansen Tv, Thomassen M, Eccles DM, Tucker K, Benitez J, Domchek SM, Toland AE, Van Rensburg EJ, Wappenschmidt B, Borg Å, Vreeswijk MP, Goldgar DE; ENIGMA Consortium. Spurdle AB, et al. Among authors: van asperen cj, van rensburg ej, van den ouweland am. J Med Genet. 2012 Aug;49(8):525-32. doi: 10.1136/jmedgenet-2012-101037. J Med Genet. 2012. PMID: 22889855 Free PMC article.
219 results