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RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility.
Tavera-Tapia A, de la Hoya M, Calvete O, Martin-Gimeno P, Fernández V, Macías JA, Alonso B, Pombo L, de Diego C, Alonso R, Pita G, Barroso A, Urioste M, Caldés T, Newman JA, Benítez J, Osorio A. Tavera-Tapia A, et al. Among authors: barroso a. Hum Mutat. 2019 May;40(5):566-577. doi: 10.1002/humu.23732. Epub 2019 Mar 13. Hum Mutat. 2019. PMID: 30817846
Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.
Osorio A, Bogliolo M, Fernández V, Barroso A, de la Hoya M, Caldés T, Lasa A, Ramón y Cajal T, Santamariña M, Vega A, Quiles F, Lázaro C, Díez O, Fernández D, González-Sarmiento R, Durán M, Piqueras JF, Marín M, Pujol R, Surrallés J, Benítez J. Osorio A, et al. Among authors: barroso a. Hum Mutat. 2013 Dec;34(12):1615-8. doi: 10.1002/humu.22438. Epub 2013 Oct 7. Hum Mutat. 2013. PMID: 24027083
Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.
Tavera-Tapia A, Pérez-Cabornero L, Macías JA, Ceballos MI, Roncador G, de la Hoya M, Barroso A, Felipe-Ponce V, Serrano-Blanch R, Hinojo C, Miramar-Gallart MD, Urioste M, Caldés T, Santillan-Garzón S, Benitez J, Osorio A. Tavera-Tapia A, et al. Among authors: barroso a. Breast Cancer Res Treat. 2017 Feb;161(3):597-604. doi: 10.1007/s10549-016-4058-7. Epub 2016 Dec 2. Breast Cancer Res Treat. 2017. PMID: 27913932
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: barroso a. 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
Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition.
García MJ, Fernández V, Osorio A, Barroso A, Fernández F, Urioste M, Benítez J. García MJ, et al. Among authors: barroso a. Carcinogenesis. 2009 Nov;30(11):1898-902. doi: 10.1093/carcin/bgp218. Epub 2009 Sep 8. Carcinogenesis. 2009. PMID: 19737859
326 results