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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. Among authors: hogervorst fb. 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.
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Antoniou AC, Spurdle AB, Sinilnikova OM, Healey S, Pooley KA, Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Hofmann W, Sutter C, Niederacher D, Deissler H, Caldes T, Kämpjärvi K, Nevanlinna H, Simard J, Beesley J, Chen X; Kathleen Cuningham Consortium for Research into Familial Breast Cancer; Neuhausen SL, Rebbeck TR, Wagner T, Lynch HT, Isaacs C, Weitzel J, Ganz PA, Daly MB, Tomlinson G, Olopade OI, Blum JL, Couch FJ, Peterlongo P, Manoukian S, Barile M, Radice P, Szabo CI, Pereira LH, Greene MH, Rennert G, Lejbkowicz F, Barnett-Griness O, Andrulis IL, Ozcelik H; OCGN; Gerdes AM, Caligo MA, Laitman Y, Kaufman B, Milgrom R, Friedman E; Swedish BRCA1 and BRCA2 study collaborators; Domchek SM, Nathanson KL, Osorio A, Llort G, Milne RL, Benítez J, Hamann U, Hogervorst FB, Manders P, Ligtenberg MJ, van den Ouweland AM; DNA-HEBON collaborators; Peock S, Cook M, Platte R, Evans DG, Eeles R, Pichert G, Chu C, Eccles D, Davidson R, Douglas F; EMBRACE; Godwin AK, Barjhoux L, Mazoyer S, Sobol H, Bourdon V, Eisinger F, Chompret A, Capoulade C, Bressac-de Paillerets B, Lenoir GM, Gauthier-Villars M, Houdayer C, Stoppa-Lyonnet D; GEMO; Chenevix-Trench G, Easton DF; CIMBA. Antoniou AC, et al. Among authors: hogervorst fb. Am J Hum Genet. 2008 Apr;82(4):937-48. doi: 10.1016/j.ajhg.2008.02.008. Epub 2008 Mar 20. Am J Hum Genet. 2008. PMID: 18355772 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: hogervorst fb. Hum Mutat. 2008 Nov;29(11):1282-91. doi: 10.1002/humu.20880. Hum Mutat. 2008. PMID: 18951446 Free PMC article.
No evidence that GATA3 rs570613 SNP modifies breast cancer risk.
Johnatty SE, Couch FJ, Fredericksen Z, Tarrell R, Spurdle AB, Beesley J, Chen X; kConFab Investigators; AOCS Group; Swedish BRCA1 and BRCA2 Study Collaborators; Gschwantler-Kaulich D, Singer CF, Fuerhauser C, Fink-Retter A, Domchek SM, Nathanson KL, Pankratz VS, Lindor NM, Godwin AK, Caligo MA, Hopper J, Southey MC, Giles GG, Justenhoven C, Brauch H, Hamann U, Ko YD, Heikkinen T, Aaltonen K, Aittomäki K, Blomqvist C, Nevanlinna H, Hall P, Czene K, Liu J, Peock S, Cook M, Platte R, Gareth Evans D, Lalloo F, Eeles R, Pichert G, Eccles D, Davidson R, Cole T, Cook J, Douglas F, Chu C, Hodgson S, Paterson J, Hogervorst FB, Rookus MA, Seynaeve C, Wijnen J, Vreeswijk M, Ligtenberg M, van der Luijt RB, van Os TA, Gille HJ, Blok MJ; HEBON; Issacs C, Humphreys MK, McGuffog L, Healey S, Sinilnikova O, Antoniou AC, Easton DF, Chenevix-Trench G; Breast Cancer Association Consortium and Consortium of Investigators of Modifiers of BRCA1/2. Johnatty SE, et al. Among authors: hogervorst fb. Breast Cancer Res Treat. 2009 Sep;117(2):371-9. doi: 10.1007/s10549-008-0257-1. Epub 2008 Dec 11. Breast Cancer Res Treat. 2009. PMID: 19082709 Free PMC article.
157 results