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Page 1
The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.
Infante M, Durán M, Acedo A, Sánchez-Tapia EM, Díez-Gómez B, Barroso A, García-González M, Feliubadaló L, Lasa A, de la Hoya M, Esteban-Cardeñosa E, Díez O, Martínez-Bouzas C, Godino J, Teulé A, Osorio A, Lastra E, González-Sarmiento R, Miner C, Velasco EA. Infante M, et al. Carcinogenesis. 2013 Nov;34(11):2505-11. doi: 10.1093/carcin/bgt272. Epub 2013 Aug 8. Carcinogenesis. 2013. PMID: 23929434 Free article.
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.
Díez O, Osorio A, Durán M, Martinez-Ferrandis JI, de la Hoya M, Salazar R, Vega A, Campos B, Rodríguez-López R, Velasco E, Chaves J, Díaz-Rubio E, Jesús Cruz J, Torres M, Esteban E, Cervantes A, Alonso C, San Román JM, González-Sarmiento R, Miner C, Carracedo A, Eugenia Armengod M, Caldés T, Benítez J, Baiget M. Díez O, et al. Hum Mutat. 2003 Oct;22(4):301-12. doi: 10.1002/humu.10260. Hum Mutat. 2003. PMID: 12955716
The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations.
Rodríguez-López R, Osorio A, Ribas G, Pollán M, Sánchez-Pulido L, de la Hoya M, Ruibal A, Zamora P, Arias JI, Salazar R, Vega A, Martínez JI, Esteban-Cardeñosa E, Alonso C, Letón R, Urioste Azcorra M, Miner C, Armengod ME, Carracedo A, González-Sarmiento R, Caldés T, Díez O, Benítez J. Rodríguez-López R, et al. Int J Cancer. 2004 Jul 20;110(6):845-9. doi: 10.1002/ijc.20169. Int J Cancer. 2004. PMID: 15170666
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.
Combinatorial effects of splice variants modulate function of Aiolos.
Caballero R, Setien F, Lopez-Serra L, Boix-Chornet M, Fraga MF, Ropero S, Megias D, Alaminos M, Sanchez-Tapia EM, Montoya MC, Esteller M, Gonzalez-Sarmiento R, Ballestar E. Caballero R, et al. J Cell Sci. 2007 Aug 1;120(Pt 15):2619-30. doi: 10.1242/jcs.007344. J Cell Sci. 2007. PMID: 17646674 Free article.
[Patients with clinical criteria for Lynch syndrome with and without mutations in DNA repair genes (MLH1 and MSH2). A challenge for the clinician].
Seijas Tamayo R, Martín Gómez T, Pérez García J, Macías Álvarez L, Sánchez Barba M, Castro Marcos E, Sánchez Tapia EM, González Sarmiento R, Cruz Hernández JJ. Seijas Tamayo R, et al. Med Clin (Barc). 2011 Jul 9;137(4):166-70. doi: 10.1016/j.medcli.2011.03.017. Epub 2011 May 23. Med Clin (Barc). 2011. PMID: 21601892 Spanish.
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. Hum Mutat. 2013 Dec;34(12):1615-8. doi: 10.1002/humu.22438. Epub 2013 Oct 7. Hum Mutat. 2013. PMID: 24027083
Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers.
Zugazagoitia J, Pérez-Segura P, Manzano A, Blanco I, Vega A, Custodio A, Teulé A, Fachal L, Martínez B, González-Sarmiento R, Cruz-Hernández JJ, Chirivella I, Garcés V, Garre P, Romero A, Caldés T, Díaz-Rubio E, de la Hoya M. Zugazagoitia J, et al. Breast Cancer Res Treat. 2014 Nov;148(2):415-21. doi: 10.1007/s10549-014-3167-4. Epub 2014 Oct 24. Breast Cancer Res Treat. 2014. PMID: 25342642
282 results