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Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.
Nielsen SM, Eccles DM, Romero IL, Al-Mulla F, Balmaña J, Biancolella M, Bslok R, Caligo MA, Calvello M, Capone GL, Cavalli P, Chan TLC, Claes KBM, Cortesi L, Couch FJ, de la Hoya M, De Toffol S, Diez O, Domchek SM, Eeles R, Efremidis A, Fostira F, Goldgar D, Hadjisavvas A, Hansen TVO, Hirasawa A, Houdayer C, Kleiblova P, Krieger S, Lázaro C, Loizidou M, Manoukian S, Mensenkamp AR, Moghadasi S, Monteiro AN, Mori L, Morrow A, Naldi N, Nielsen HR, Olopade OI, Pachter NS, Palmero EI, Pedersen IS, Piane M, Puzzo M, Robson M, Rossing M, Sini MC, Solano A, Soukupova J, Tedaldi G, Teixeira M, Thomassen M, Tibiletti MG, Toland A, Törngren T, Vaccari E, Varesco L, Vega A, Wallis Y, Wappenschmidt B, Weitzel J, Spurdle AB, De Nicolo A, Gómez-García EB. Nielsen SM, et al. Among authors: couch fj. JCO Precis Oncol. 2018;2:PO.18.00091. doi: 10.1200/PO.18.00091. Epub 2018 Oct 26. JCO Precis Oncol. 2018. PMID: 31517176 Free PMC article.
Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers.
Cullinane CA, Lubinski J, Neuhausen SL, Ghadirian P, Lynch HT, Isaacs C, Weber B, Moller P, Offit K, Kim-Sing C, Friedman E, Randall S, Pasini B, Ainsworth P, Gershoni-Baruch R, Foulkes WD, Klijn J, Tung N, Rennert G, Olopade O, Couch F, Wagner T, Olsson H, Sun P, Weitzel JN, Narod SA. Cullinane CA, et al. Int J Cancer. 2005 Dec 20;117(6):988-91. doi: 10.1002/ijc.21273. Int J Cancer. 2005. PMID: 15986445 Free article.
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.
Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
Lovelock PK, Spurdle AB, Mok MT, Farrugia DJ, Lakhani SR, Healey S, Arnold S, Buchanan D; kConFab Investigators; Couch FJ, Henderson BR, Goldgar DE, Tavtigian SV, Chenevix-Trench G, Brown MA. Lovelock PK, et al. Among authors: couch fj. Breast Cancer Res. 2007;9(6):R82. doi: 10.1186/bcr1826. Breast Cancer Res. 2007. PMID: 18036263 Free PMC article.
636 results