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Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.
Greenblatt MS, Brody LC, Foulkes WD, Genuardi M, Hofstra RM, Olivier M, Plon SE, Sijmons RH, Sinilnikova O, Spurdle AB; IARC Unclassified Genetic Variants Working Group. Greenblatt MS, et al. Among authors: foulkes wd. Hum Mutat. 2008 Nov;29(11):1273-81. doi: 10.1002/humu.20889. Hum Mutat. 2008. PMID: 18951438 Free PMC article.
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.
Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV; IARC Unclassified Genetic Variants Working Group. Plon SE, et al. Among authors: foulkes wd. Hum Mutat. 2008 Nov;29(11):1282-91. doi: 10.1002/humu.20880. Hum Mutat. 2008. PMID: 18951446 Free PMC article.
High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.
Chong G, Jarry J, Marcus V, Thiffault I, Winocour S, Monczak Y, Drouin R, Latreille J, Australie K, Bapat B, Gordon PH, Giguère Y, Gologan A, Galiatsatos P, Jass JR, Wong N, Zaor S, Palma L, Kasprzak L, Tischkowitz M, Foulkes WD. Chong G, et al. Among authors: foulkes wd. Hum Mutat. 2009 Aug;30(8):E797-812. doi: 10.1002/humu.21056. Hum Mutat. 2009. PMID: 19459153
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.
Rare germline mutations in PALB2 and breast cancer risk: a population-based study.
Tischkowitz M, Capanu M, Sabbaghian N, Li L, Liang X, Vallée MP, Tavtigian SV, Concannon P, Foulkes WD, Bernstein L; WECARE Study Collaborative Group; Bernstein JL, Begg CB. Tischkowitz M, et al. Among authors: foulkes wd. Hum Mutat. 2012 Apr;33(4):674-80. doi: 10.1002/humu.22022. Epub 2012 Feb 15. Hum Mutat. 2012. PMID: 22241545 Free PMC article.
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, A… See abstract for full author list ➔ Bancroft EK, et al. Among authors: foulkes wd. 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.
730 results