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Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.
Hu C, Huang H, Na J, Lumby C, Abozaid M, Holdren MA, Rao TJ, Karam R, Pesaran T, Weyandt JD, Csuy CM, Seelaus CA, Young CC, Fulk K, Heidari Z, Morais Lyra PC Jr, Couch RE, Persons B, Polley EC, Gnanaolivu RD, Boddicker NJ, Monteiro ANA, Yadav S, Domchek SM, Richardson ME, Couch FJ. Hu C, et al. Among authors: couch fj. Am J Hum Genet. 2024 Mar 7;111(3):584-593. doi: 10.1016/j.ajhg.2024.02.002. Epub 2024 Feb 27. Am J Hum Genet. 2024. PMID: 38417439
Cancer risk assessment at the atomic level.
Monteiro AN, Couch FJ. Monteiro AN, et al. Among authors: couch fj. Cancer Res. 2006 Feb 15;66(4):1897-9. doi: 10.1158/0008-5472.CAN-05-3034. Cancer Res. 2006. PMID: 16488985
Functional assays for BRCA1 and BRCA2.
Carvalho MA, Couch FJ, Monteiro AN. Carvalho MA, et al. Among authors: couch fj. Int J Biochem Cell Biol. 2007;39(2):298-310. doi: 10.1016/j.biocel.2006.08.002. Epub 2006 Aug 18. Int J Biochem Cell Biol. 2007. PMID: 16978908 Free PMC article. Review.
Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.
Carvalho MA, Marsillac SM, Karchin R, Manoukian S, Grist S, Swaby RF, Urmenyi TP, Rondinelli E, Silva R, Gayol L, Baumbach L, Sutphen R, Pickard-Brzosowicz JL, Nathanson KL, Sali A, Goldgar D, Couch FJ, Radice P, Monteiro AN. Carvalho MA, et al. Among authors: couch fj. Cancer Res. 2007 Feb 15;67(4):1494-501. doi: 10.1158/0008-5472.CAN-06-3297. Cancer Res. 2007. PMID: 17308087 Free PMC article.
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE. Easton DF, et al. Among authors: couch fj. Am J Hum Genet. 2007 Nov;81(5):873-83. doi: 10.1086/521032. Epub 2007 Sep 6. Am J Hum Genet. 2007. PMID: 17924331 Free PMC article.
Bilateral prophylactic oophorectomy and bilateral prophylactic mastectomy in a prospective cohort of unaffected BRCA1 and BRCA2 mutation carriers.
Friebel TM, Domchek SM, Neuhausen SL, Wagner T, Evans DG, Isaacs C, Garber JE, Daly MB, Eeles R, Matloff E, Tomlinson G, Lynch HT, Tung N, Blum JL, Weitzel J, Rubinstein WS, Ganz PA, Couch F, Rebbeck TR. Friebel TM, et al. Clin Breast Cancer. 2007 Dec;7(11):875-82. doi: 10.3816/CBC.2007.n.053. Clin Breast Cancer. 2007. PMID: 18269778
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: couch fj. 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.
Functional assays for classification of BRCA2 variants of uncertain significance.
Farrugia DJ, Agarwal MK, Pankratz VS, Deffenbaugh AM, Pruss D, Frye C, Wadum L, Johnson K, Mentlick J, Tavtigian SV, Goldgar DE, Couch FJ. Farrugia DJ, et al. Among authors: couch fj. Cancer Res. 2008 May 1;68(9):3523-31. doi: 10.1158/0008-5472.CAN-07-1587. Cancer Res. 2008. PMID: 18451181 Free PMC article.
560 results