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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: de nicolo a, de toffol s, de la hoya m. 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.
Mutant BRCA1 alleles transmission: different approaches and different biases.
de la Hoya M, Meijers-Heijboer H, Fernández JM, Díez O, Osorio A, Alonso C, van Leeuwen I, Díaz-Rubio E, Cornelisse C, Benítez J, Devilee P, Caldés T. de la Hoya M, et al. Int J Cancer. 2005 Jan 1;113(1):166-7. doi: 10.1002/ijc.20541. Int J Cancer. 2005. PMID: 15386425 Free article.
Classification of BRCA1 missense variants of unknown clinical significance.
Phelan CM, Dapic V, Tice B, Favis R, Kwan E, Barany F, Manoukian S, Radice P, van der Luijt RB, van Nesselrooij BP, Chenevix-Trench G, kConFab, Caldes T, de la Hoya M, Lindquist S, Tavtigian SV, Goldgar D, Borg A, Narod SA, Monteiro AN. Phelan CM, et al. Among authors: de la hoya m. J Med Genet. 2005 Feb;42(2):138-46. doi: 10.1136/jmg.2004.024711. J Med Genet. 2005. PMID: 15689452 Free PMC article.
Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer.
de la Hoya M, Gutiérrez-Enríquez S, Velasco E, Osorio A, Sanchez de Abajo A, Vega A, Salazar R, Esteban E, Llort G, Gonzalez-Sarmiento R, Carracedo A, Benítez J, Miner C, Díez O, Díaz-Rubio E, Caldes T. de la Hoya M, et al. Clin Chem. 2006 Aug;52(8):1480-5. doi: 10.1373/clinchem.2006.070110. Epub 2006 Jun 22. Clin Chem. 2006. PMID: 16793929 Free article.
Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.
García MJ, Fernández V, Osorio A, Barroso A, Llort G, Lázaro C, Blanco I, Caldés T, de la Hoya M, Ramón Y Cajal T, Alonso C, Tejada MI, San Román C, Robles-Díaz L, Urioste M, Benítez J. García MJ, et al. Among authors: de la hoya m. Breast Cancer Res Treat. 2009 Feb;113(3):545-51. doi: 10.1007/s10549-008-9945-0. Epub 2008 Feb 27. Breast Cancer Res Treat. 2009. PMID: 18302019
173 results