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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. Among authors: velasco e. Hum Mutat. 2003 Oct;22(4):301-12. doi: 10.1002/humu.10260. Hum Mutat. 2003. PMID: 12955716
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.
Montalban G, Fraile-Bethencourt E, López-Perolio I, Pérez-Segura P, Infante M, Durán M, Alonso-Cerezo MC, López-Fernández A, Diez O, de la Hoya M, Velasco EA, Gutiérrez-Enríquez S. Montalban G, et al. Among authors: velasco ea. Hum Mutat. 2018 Sep;39(9):1155-1160. doi: 10.1002/humu.23583. Epub 2018 Jul 13. Hum Mutat. 2018. PMID: 29969168 Free 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. Among authors: velasco e. 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.
Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers.
Milne RL, Osorio A, Ramón y Cajal T, Baiget M, Lasa A, Diaz-Rubio E, de la Hoya M, Caldés T, Teulé A, Lázaro C, Blanco I, Balmaña J, Sánchez-Ollé G, Vega A, Blanco A, Chirivella I, Esteban Cardeñosa E, Durán M, Velasco E, Martínez de Dueñas E, Tejada MI, Miramar MD, Calvo MT, Guillén-Ponce C, Salazar R, San Román C, Urioste M, Benítez J. Milne RL, et al. Among authors: velasco e. Breast Cancer Res Treat. 2010 Jan;119(1):221-32. doi: 10.1007/s10549-009-0394-1. Epub 2009 Apr 16. Breast Cancer Res Treat. 2010. PMID: 19370414 Free article.
The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain.
Milne RL, Osorio A, Cajal TR, Vega A, Llort G, de la Hoya M, Díez O, Alonso MC, Lazaro C, Blanco I, Sánchez-de-Abajo A, Caldés T, Blanco A, Graña B, Durán M, Velasco E, Chirivella I, Cardeñosa EE, Tejada MI, Beristain E, Miramar MD, Calvo MT, Martínez E, Guillén C, Salazar R, San Román C, Antoniou AC, Urioste M, Benítez J. Milne RL, et al. Among authors: velasco e. Clin Cancer Res. 2008 May 1;14(9):2861-9. doi: 10.1158/1078-0432.CCR-07-4436. Clin Cancer Res. 2008. PMID: 18451254
Two founder BRCA2 mutations predispose to breast cancer in young women.
Infante M, Durán M, Lasa A, Acedo A, de la Hoya M, Esteban-Cardeñosa E, Sanz DJ, Pérez-Cabornero L, Lastra E, Miner C, Velasco EA. Infante M, et al. Among authors: velasco ea. Breast Cancer Res Treat. 2010 Jul;122(2):567-71. doi: 10.1007/s10549-009-0661-1. Epub 2009 Dec 1. Breast Cancer Res Treat. 2010. PMID: 19949853 Free article.
Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer.
Blanco A, de la Hoya M, Balmaña J, Ramón y Cajal T, Teulé A, Miramar MD, Esteban E, Infante M, Benítez J, Torres A, Tejada MI, Brunet J, Graña B, Balbín M, Pérez-Segura P, Osorio A, Velasco EA, Chirivella I, Calvo MT, Feliubadaló L, Lasa A, Díez O, Carracedo A, Caldés T, Vega A. Blanco A, et al. Among authors: velasco ea. Breast Cancer Res Treat. 2012 Feb;132(1):307-15. doi: 10.1007/s10549-011-1842-2. Epub 2011 Nov 4. Breast Cancer Res Treat. 2012. PMID: 22052327 Free article.
333 results