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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. J Med Genet. 2012 Aug;49(8):525-32. doi: 10.1136/jmedgenet-2012-101037. J Med Genet. 2012. PMID: 22889855 Free PMC article.
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
Thompson BA, Goldgar DE, Paterson C, Clendenning M, Walters R, Arnold S, Parsons MT, Michael D W, Gallinger S, Haile RW, Hopper JL, Jenkins MA, Lemarchand L, Lindor NM, Newcomb PA, Thibodeau SN; Colon Cancer Family Registry; Young JP, Buchanan DD, Tavtigian SV, Spurdle AB. Thompson BA, et al. Among authors: spurdle ab. Hum Mutat. 2013 Jan;34(1):200-9. doi: 10.1002/humu.22213. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22949379 Free PMC article.
Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity.
Parsons MT, Whiley PJ, Beesley J, Drost M, de Wind N, Thompson BA, Marquart L, Hopper JL, Jenkins MA; Australasian Colorectal Cancer Family Registry; Brown MA, Tucker K, Warwick L, Buchanan DD, Spurdle AB. Parsons MT, et al. Among authors: spurdle ab. Mol Carcinog. 2015 Jul;54(7):513-22. doi: 10.1002/mc.22116. Epub 2013 Dec 2. Mol Carcinog. 2015. PMID: 24302565 Free PMC article.
Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.
Buchanan DD, Tan YY, Walsh MD, Clendenning M, Metcalf AM, Ferguson K, Arnold ST, Thompson BA, Lose FA, Parsons MT, Walters RJ, Pearson SA, Cummings M, Oehler MK, Blomfield PB, Quinn MA, Kirk JA, Stewart CJ, Obermair A, Young JP, Webb PM, Spurdle AB. Buchanan DD, et al. Among authors: spurdle ab. J Clin Oncol. 2014 Jan 10;32(2):90-100. doi: 10.1200/JCO.2013.51.2129. Epub 2013 Dec 9. J Clin Oncol. 2014. PMID: 24323032 Free PMC article.
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Among authors: spurdle ab. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
Reply to J. Moline et al.
Buchanan DD, Tan YY, Walsh MD, Clendenning M, Metcalf AM, Ferguson K, Arnold ST, Thompson BA, Lose FA, Parsons MT, Walters RJ, Pearson SA, Cummings M, Oehler MK, Blomfield PB, Quinn MA, Kirk JA, Stewart CJ, Obermair A, Young JP, Webb PM, Spurdle AB. Buchanan DD, et al. Among authors: spurdle ab. J Clin Oncol. 2014 Jul 20;32(21):2278-9. doi: 10.1200/JCO.2014.55.8213. Epub 2014 Jun 9. J Clin Oncol. 2014. PMID: 24912891 No abstract available.
BRCA1 Circos: a visualisation resource for functional analysis of missense variants.
Jhuraney A, Velkova A, Johnson RC, Kessing B, Carvalho RS, Whiley P, Spurdle AB, Vreeswijk MP, Caputo SM, Millot GA, Vega A, Coquelle N, Galli A, Eccles D, Blok MJ, Pal T, van der Luijt RB, Santamariña Pena M, Neuhausen SL, Donenberg T, Machackova E, Thomas S, Vallée M, Couch FJ, Tavtigian SV, Glover JN, Carvalho MA, Brody LC, Sharan SK, Monteiro AN; Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium. Jhuraney A, et al. Among authors: spurdle ab. J Med Genet. 2015 Apr;52(4):224-30. doi: 10.1136/jmedgenet-2014-102766. Epub 2015 Feb 2. J Med Genet. 2015. PMID: 25643705 Free PMC article.
403 results